Curriculum Vitae - Enza Maria Valente Personal information · Curriculum Vitae - Enza Maria Valente...

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Curriculum Vitae - Enza Maria Valente Personal information Valente, Enza Maria Orcid ID: 0000-0002-0600-6820 Date of birth: 13/09/1972 Nationality: Italian Education May 2003 PhD in Neurogenetics, Institute of Neurology, University College of London, London, UK Nov. 1999 Certification in Neurology with honours, Catholic University, Rome, Italy July 1994 Degree in Medicine with honours, Catholic University, Rome, Italy (youngest graduate in Medicine in Italy) Professional Appointments from Nov. 2016 Full Professor of Medical Genetics, University of Pavia, Pavia, Italy from Sep. 2016 Head of Neurogenetic Unit, IRCCS Santa Lucia Foundation, Rome, Italy 2012-2016 Associate Professor of Medical Genetics, University of Salerno, Salerno, Italy 2006-2012 Associate Professor of Medical Genetics, University of Messina, Messina, Italy 2003-2015 Head of Neurogenetic Unit, CSS Mendel Institute, Rome, Italy Clinical activities 2011-2015 Neurogenetic clinic, CSS-Mendel Institute, Rome, Italy 2006-2012 Neurogenetic clinic, Dept. of Medical and Surgical Pediatric Sciences, University of Messina 2003-2005 Neurogenetic clinic, S Maria Hospital, Terni, Italy 2003-2012 Pediatric Botulinum Toxin clinic, San Raffaele Pisana Institute, Rome, Italy Teaching activities 2012-present Medical Genetics Courses for the Degrees of Medicine, Nursery, Paediatric Nursery, Physiotherapy and Obstetrics, University of Salerno 2006-2012 Medical Genetics and General Pathology Courses for the Degrees of Pharmacy and Biotechnology, University of Messina Supervision of students and postdoctoral fellows (Universities of Messina, Salerno and Sapienza of Rome): - 18 master students in biotechnology / biological sciences - 1 master student in medicine and surgery - 8 residents in medical genetics - 12 PhD students (neuropsychiatry, molecular medicine, medical genetics, neurosciences). Scientific production - 204 publications on international peer-reviewed journals IF: 1290.9; h-index: 49 (Scopus); 46 (Web of Science) - 11 book chapters; - Editor of the book “Paediatric Neurological Disorders with Cerebellar Involvement(Montrouge, John Libbey Eurotext, 2014).

Transcript of Curriculum Vitae - Enza Maria Valente Personal information · Curriculum Vitae - Enza Maria Valente...

Page 1: Curriculum Vitae - Enza Maria Valente Personal information · Curriculum Vitae - Enza Maria Valente Personal information Valente, Enza Maria Orcid ID: 0000-0002-0600-6820 Date of

Curriculum Vitae - Enza Maria Valente

Personal information

Valente, Enza Maria

Orcid ID: 0000-0002-0600-6820

Date of birth: 13/09/1972

Nationality: Italian

Education

May 2003 PhD in Neurogenetics, Institute of Neurology, University College of London,

London, UK

Nov. 1999 Certification in Neurology with honours, Catholic University, Rome, Italy

July 1994 Degree in Medicine with honours, Catholic University, Rome, Italy (youngest

graduate in Medicine in Italy)

Professional Appointments

from Nov. 2016 Full Professor of Medical Genetics, University of Pavia, Pavia, Italy

from Sep. 2016 Head of Neurogenetic Unit, IRCCS Santa Lucia Foundation, Rome, Italy

2012-2016 Associate Professor of Medical Genetics, University of Salerno, Salerno, Italy

2006-2012 Associate Professor of Medical Genetics, University of Messina, Messina, Italy

2003-2015 Head of Neurogenetic Unit, CSS Mendel Institute, Rome, Italy

Clinical activities

2011-2015 Neurogenetic clinic, CSS-Mendel Institute, Rome, Italy

2006-2012 Neurogenetic clinic, Dept. of Medical and Surgical Pediatric Sciences, University

of Messina

2003-2005 Neurogenetic clinic, S Maria Hospital, Terni, Italy

2003-2012 Pediatric Botulinum Toxin clinic, San Raffaele Pisana Institute, Rome, Italy

Teaching activities

2012-present Medical Genetics Courses for the Degrees of Medicine, Nursery, Paediatric

Nursery, Physiotherapy and Obstetrics, University of Salerno

2006-2012 Medical Genetics and General Pathology Courses for the Degrees of Pharmacy

and Biotechnology, University of Messina

Supervision of students and postdoctoral fellows (Universities of Messina, Salerno and Sapienza

of Rome):

- 18 master students in biotechnology / biological sciences

- 1 master student in medicine and surgery

- 8 residents in medical genetics

- 12 PhD students (neuropsychiatry, molecular medicine, medical genetics, neurosciences).

Scientific production

- 204 publications on international peer-reviewed journals

IF: 1290.9;

h-index: 49 (Scopus); 46 (Web of Science)

- 11 book chapters;

- Editor of the book “Paediatric Neurological Disorders with Cerebellar Involvement”

(Montrouge, John Libbey Eurotext, 2014).

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Research funding (since 2010)

- MEFOPA European Community FP7 – 50.000 € – years 2010-2012 – role: partner

- Telethon Italy – 180.000 € – years 2011-2013 – role: PI

- Italian Ministry of Health – giovani ricercatori – 228.478 € – years 2011-2014 – role: PI

- Italian Ministry of Health – malattie rare – 108.769 € – years 2011-2014 – role: co-PI

- Italian Ministry of Health – malattie rare – 115.385 € – years 2011-2014 – role: PI

- ERC Starting Grant – 1.368.000 € – years 2011-2017 – role: PI

- Italian Ministry of University and Research – 619.213 € – years 2012-2017 – role: partner

- Telethon Italy – 215.600 € – years 2013-2016 – role: co-PI

- Italian Ministry of Health – 522.358 € – years 2016-2018 – role: co-PI

Institutional responsibilities

2015 Commission member, Researcher position in Medical Genetics, University of Bologna

2015 External PhD examiner, PhD course in Genetics and Molecular Medicine, Federico II

University of Naples

2013-2015 Coordinator of CSS-Mendel Institute CME activity (biannual series of 10 seminars, with

national and international speakers)

2013 External PhD examiner, PhD course in Biomedical Sciences and Human Oncology,

curriculum Human Genetics, University of Turin

2009 External PhD examiner, international PhD courses in Oncology and Genetics and in

Medical Genetics, University of Siena

2008 External PhD examiner, international PhD course in Molecular Medicine, University

Vita & Salute San Raffaele, Milan

Commissions of trust

2016-present Associate Editor, Journal of Medical Genetics journal

2016-2019 Member of the Scientific Panel Committee, European Human Genetics

Conference (official international congress of the European Society of Human

Genetics)

2015 Member of the Scientific Committee, XVIII National Congress of the Italian Society

of Human Genetics

2015-present Scientific Advisory Board member, PEARL research Programme, Luxembourg

2014-present Editorial Board member, Current Molecular Medicine journal

2014 Evaluation Committee panel member, 2014 Work Programme Generic Call for

Proposals, French National Research Agency (ANR)

2013-2014 Editorial Board Member, Movement Disorders journal

2013 Expert Panel member, structural research programme PEARL (Programme Excellent

Award for Research in Luxembourg), proposal “Comprehensive assessment of

endophenotypes in Parkinson’s disease - translating impaired molecular signaling

pathways into novel therapeutic strategies”

2010-present Genetics Section Editor, Pediatric Research journal

2009-present Associate Editor, BMC Neurology journal

2008-present Member of the Scientific Committee, Italian Association for Neurodegenerative

syndromes with Brain Iron Accumulation (AISNAF)

2007-present Vice-President, Italian Association for Joubert syndrome and Congenital Ataxias

(AISJAC)

Organisation of scientific meetings

March 2013 XXV course of the Mariani Foundation “Paediatric neurological disorders with

cerebellar involvement: diagnosis and management”, Rome, Italy (co-

organizers: Drs. D’Arrigo and Riva, IRCCS Besta Foundation, Milan). This meeting

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featured several international speakers and was attended by over 100 participants.

Nov. 2006 I Cerebellar Developmental Meeting: from bench to bedsite, Washington DC,

United States (co-organisers: Drs. Gleeson, UCSD, and Dobyns, University of

Washington). This meeting gathered over fifty scientists from Europe and US with

specific expertise in cerebellar disorders.

Patents

Patent released in USA and Canada “Compositions and methods for determining genetic

polymorphisms in the TMEM216 gene” (US Patent Application Serial Nr. 13/098,345 of April 29,

2011; Canada Patent Application Serial Nr. 2,741,110 of May 24, 2011).

Prizes and awards

2006 L’Oreal Prize for Women in Science – Italy

2001 Novartis Price for Neurology

Active membership of scientific societies and international networks

- Italian Society of Human Genetics

- Movement Disorders society

- Italian Society of Neurology

- Italian Academy for the study of Parkinson disease and movement disorders

- Ataxia research group, European Pediatric Neurology Society

- SPATAX (international network on cerebellar ataxias and spastic paraplegias)

- GeoPD (international consortium on genetic and epidemiological studies on Parkinson’s disease).

Establishment of national and international research networks

- International JSRD study group – including more than 100 clinicians from 25 countries referring

patients with Joubert syndrome and other ciliopathies for genetic studies

- Italian CBCD network – including multidisciplinary specialists (geneticists, paediatric

neurologists, child neuropsychiatrists, paediatric neuroradiologists, paediatric neuro-

ophthalmologists, paediatric nephrologists) from nine third-level diagnostic centres.

Peer-review activity for international journals and grant agencies

Besides taking part in Evaluation Committee panels (see above), Dr Valente has reviewed

individual grants for the Michael J Fox Foundation for Parkinson’s Disease, the UK Parkinson’s

Disease Society, the Research Council of Norway, the Channel 7 Children’s Research Foundation

Australia, and the Italian Ministry of University and Research.

She has acted as expert reviewer for the following journals: Am J Hum Genet; Am J Med Genet;

Ann Neurol; Brain; Cell Death Differ; Cell Death Dis; Clin Genet; Eur J Med Genet; Eur J Hum Genet;

Eur J Neurol; Genome Biol; Hum Genet; Hum Mol Genet; Hum Mutat; J Med Genet; J Neg Res

Biomed; J Neurol, Neurosurg Psychiatry; J Park Dis; Kidney Int; Lancet Neurol; Mol Neurobiol; Mov

Disord; Nature Genet; Nature Rev Neurol; Neurobiol Dis; Neurogenetics; Neurology; Neurol Sci;

Neuropediatrics; Neuromuscular Dis; Neurosci Lett; Organogenesis; Orphanet J Rare Dis; Park Rel

Dis; Trends Mol Med; Trends Neurosci.

Invited presentations to international conferences

Dr Valente has been regularly invited to give talks at several national and international

conferences on genetics, neurology and neuropediatrics, including the official congresses of the

European Society of Human Genetics, the European Pediatric Neurology Society, the Italian Society

of Human Genetics, the Italian Society of Neurology, the Italian Society of Child Neuropsychiatry,

the Israeli Society of Metabolic Diseases and Neurometabolic Disorders, the Movement Disorders

Society, the International Child Neurology Congress.

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Scientific production

1. De Mori R, Romani M, D’Arrigo S, Zaki M, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D,

Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A,

Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E,

Dobyns WB, Mazza T, Gleeson JG, Valente EM. Hypomorphic recessive variants in SUFU impair

the Sonic Hedgehog pathway and cause Joubert syndrome with cranio-facial and skeletal

defects. Am J Hum Genet 2017 (in press)

2. Picillo M, Petrucci S, Valente EM, Pappatà S, Squame F, Ginevrino M, Pace L, Barone P,

Pellecchia MT. Progressive Supranuclear Palsy-like phenotype in a GBA E326K mutation

carrier. Mov Disord Clin Pract 2017 (in press)

3. Arrigoni F, Romaniello R, Peruzzo D, De Luca A, Parazzini C, Valente EM, Borgatti R, Triulzi F.

Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated

with Joubert Syndrome. AJNR Am J Neuroradiol 2017 Aug 24. [Epub ahead of print]

4. Vicario M, Calì T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, Zonta F, Nardella M, Micalizzi A,

Lefeber DJ, Valente EM, Bertini E, Zanotti G, Zanni G, Brini M, Carafoli E. A novel PMCA3

mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2)

heterozygote mutations: Biochemical characterization of the pump defect. Biochim Biophys

Acta 2017 Aug 11. [Epub ahead of print]

5. Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli

A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-

Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT,

Valente EM, Borgatti R. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of

cerebellar malformation. Eur Radiol 2017 Jul 4. [Epub ahead of print]

6. Gelmetti V, De Rosa P, Torosantucci L, Marini ES, Romagnoli A, Di Rienzo M, Arena G, Vignone

D, Fimia GM, Valente EM. PINK1 and BECN1 relocalize at mitochondria-associated membranes

during mitophagy and promote ER-mitochondria tethering and autophagosome formation.

Autophagy 2017;13:654-669.

7. Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C,

McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R,

Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R. GNAO1 encephalopathy:

Broadening the phenotype and evaluating treatment and outcome. Neurol Genet

2017;3(2):e143.

8. Masson R, Piretti E, Pellegrin S, Gusson E, Poretti A, Valente EM, Cantalupo G. Early-onset head

titubation in a child with Poretti-Boltshauser syndrome. Neurology 2017;88:1478-1479.

9. Balint B, Valente EM. KMT2B: A new twist in dystonia genetics. Mov Disord 2017;32:529.

10. Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL,

Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor

A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia

I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D,

Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA,

Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns

WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC,

Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Biallelic mutations in the 3'

exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Nat Genet 2017;49:457-464.

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11. Carecchio M, Reale C, Invernizzi F, Monti V, Petrucci S, Ginevrino M, Morgante F, Zorzi G,

Zibordi F, Bentivoglio AR, Valente EM, Nardocci N, Garavaglia B. DYT2 screening in early-onset

isolated dystonia. Eur J Paediatr Neurol 2017;21:269-271.

12. Mitchison HM, Valente EM. Motile and non-motile cilia in human pathology: from function to

phenotypes. J Pathol 2017;241:294-309.

13. Makovac E, Cercignani M, Serra L, Torso M, Spanò B, Petrucci S, Ricciardi L, Ginevrino M,

Caltagirone C, Bentivoglio AR, Valente EM, Bozzali M. Brain Connectivity Changes in

Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form. PLoS One

2016;11:e0163980.

14. Arena G, Valente EM. PINK1 in the limelight: multiple functions of an eclectic protein in

human health and disease. J Pathol 2017;241:251-263.

15. Morgante F, Fasano A, Ginevrino M, Petrucci S, Ricciardi L, Bove F, Criscuolo C, Moccia M, De

Rosa A, Sorbera C, Bentivoglio AR, Barone P, De Michele G, Pellecchia MT, Valente EM.

Impulsive-compulsive behaviors in Parkin-associated Parkinson’s disease. Neurology

2016;87:1436-1441 (article featured in a dedicated Editorial and in the “In focus” section of the

journal).

16. Bulgheroni S, D'Arrigo S, Signorini S, Briguglio M, Di Sabato ML, Casarano M, Mancini F,

Romani M, Alfieri P, Battini R, Zoppello M, Tortorella G, Bertini E, Leuzzi V, Valente EM, Riva D.

Cognitive, adaptive, and behavioral features in Joubert syndrome. Am J Med Genet A 2016;

170:3115-3124.

17. Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel

L, Clark AG; Greater Middle East Variome Consortium, Alkuraya FS, Casanova JL, Gleeson JG.

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene

discovery. Nat Genet 2016;48:1071-1076.

18. Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo

Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia

M, Valente EM, Dionisi-Vico C, Christodoulou J, Bertini E, Carrozzo R. A novel mutation in

NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic

anemia. Clin Genet 2016 Apr 21. [Epub ahead of print]

19. Zhang S, Malik Sharif S, Chen YC, Valente EM, Ahmed M, Sheridan E, Bennett C, Woods G.

Clinical features for diagnosis and management of patients with PRDM12 congenital

insensitivity to pain. J Med Genet 2016;53:533-535.

20. Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-gazali L, Altunoglu

U, Boltshauser E, D’Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark

PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente

EM. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J

Med Genet 2016;53:608-615.

21. Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B,

Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, Mandrile G,

Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber S, von Moers

A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM. Clinical, neuroradiological

and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser

syndrome). Eur J Hum Genet 2016;24:1262-1267.

22. Micalizzi A, Moroni I, Ginevrino M, Biagini T, Mazza T, Romani M, Valente EM. Very mild

features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

Neurogenetics 2016;17:191-195.

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23. Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De Mori R, Bruel AL, Gaillard

D, Doray B, Lopez E, Riviere JB, Faivre L, Thauvin-Robinet C, Reiter JF, Blacque OE, Valente EM,

Leroux MR. MKS5 and CEP290 dependent assembly pathway of the ciliary transition zone.

PLoS Biol 2016;14:e1002416.

24. Martella G, Madeo G, Maltese M, Vanni V, Puglisi F, Ferraro E, Schirinzi T, Valente EM, Bonanni

L, Shen J, Mandolesi G, Mercuri NB, Bonsi P, Pisani A. Exposure to low-dose rotenone

precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice. Neurobiol

Dis 2016;91:21-36.

25. Kraoua I, Romani M, Tonduti D, Benrhouma H, Zorzi G, Zibordi F, Ardissone A, Gouider-Khouja

N, Ben Youssef-Turki I, Nardocci N, Valente EM. Elevated AST and LDH levels are a constant

finding in PLA2G6-associated neurodegeneration (PLAN). Eur J Neurol 2016;23:e24.

26. Romani M, Mehawej C, Mazza T, Megarbane A, Valente EM. “Fork and bracket” syndrome

expands the spectrum of SBF1-related sensory-motor polyneuropathies. Neurol Genet

2016;2:e61.

27. Klionsky DJ, Abdelmohsen K, Abe A, … Valente EM… et al. Guidelines for the use and

interpretation of assays for monitoring autophagy (3rd edition). Autophagy 2016;12:1-222.

28. Ricciardi L, Petrucci S, Di Giuda D, Serra L, Spanò B, Sensi M, Ginevrino M, Cocciolillo F, Bozzali

M, Valente EM, Fasano A. The Contursi Family 20 Years Later: Intrafamilial Phenotypic

Variability of the SNCA p.A53T Mutation. Mov Disord 2016;31(2):257-258.

29. Mormina E, Briguglio M, Morabito R, Arrigo A, Marino S, Di Rosa G, Micalizzi A, Valente EM,

Salpietro V, Vinci SL, Longo M, Granata F. A rare case of cerebellar agenesis: a probabilistic

Constrained Spherical Deconvolution tractographic study. Brain Imaging Behav

2016;10:158-167.

30. Petrucci S, Ginevrino M, Valente EM. Phenotypic spectrum of alpha-synuclein mutations: New

insights from patients and cellular models. Parkinsonism Relat Disord 2015;22(suppl.1):S16-

S20.

31. Di Giacopo R, Cianetti L, Caputo V, La Torraca I, Piemonte F, Ciolfi A, Petrucci S, Carta C,

Mariotti P, Leuzzi V, Valente EM, D'Amico A, Bentivoglio A, Bertini E, Tartaglia M, Zampino G.

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and

biochemical characterization in three sibs. J Neurol Sci 2015;356:65-71.

32. Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti

D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek

CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S,

Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI.

Altered PLP1 splicing causes hypomyelination of early myelinating structures. Ann Clin Transl

Neurol 2015;2:648-61.

33. Gagliardi C, Brenna V, Romaniello R, Arrigoni F, Tavano A, Romani M, Valente EM, Borgatti R.

Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive

changes in a single case report. Res Dev Disabil 2015;47:375-384.

34. De Rosa P, Marini ES, Gelmetti V, Valente EM. Candidate genes for Parkinson disease: Lessons

from pathogenesis. Clin Chim Acta 2015;449:68-76.

35. Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J,

Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, İncecik F,

Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Strømme P,

Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Bertini E, Emma F, Steinlin M,

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Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S,

Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG. Functional genome-wide siRNA

screen identifies KIAA0586 as mutated in Joubert syndrome. Elife 2015;4:e06602.

36. Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM,

Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman

Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M,

Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F,

Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK,

Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager

R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I,

Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Transcriptional regulator PRDM12 is

essential for human pain perception. Nat Genet 2015;47:803-8.

37. Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AM, Rugolo M,

Valentino ML, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EM,

Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, Liguori R, Baruzzi A,

Toscano A, Zeviani M. Syndromic parkinsonism and dementia associated with OPA1 missense

mutations. Ann Neurol 2015;78:21-38.

38. Zanellati MC, Monti V, Barzaghi C, Reale C, Nardocci N, Albanese A, Valente EM, Ghezzi D,

Garavaglia B. Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2

fibroblasts. Front Genet 2015;6:78.

39. Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A,

Anderson B, Pizzino A, Helman G,Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A,

Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam

EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G,

Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Luisa Carpanelli M,

Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE,

Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D Arrigo S, De Goede CG,

De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi

E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan

D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H,

Laugel V, Piana RL, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques

Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R,

Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B,

Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A,

Salvatici E, Segers KA,Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda

KJ, Suri M, Tacke U, Tan TY, Te Water Naude J, Wee Teik K, Mary Thomas M, Till M, Tonduti

D, Valente EM, Noel Van Coster R, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J,

Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM,

Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Characterization of

human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B,

RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A 2015;167:296-312.

40. Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T,

Valente EM, Gouider-Khouja N. Infantile and childhood onset PLA2G6-associated

neurodegeneration in a large North African cohort. Eur J Neurol 2015;22:178-186.

41. Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R,

Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig

K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel

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R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM. Oral-facial-

digital syndrome type VI: is C5orf42 really the major gene? Hum Genet 2015;134:123-126.

42. Ricciardi L, Petrucci S, Guidubaldi A, Ialongo T, Serra L, Ferraris A, Spanò B, Bozzali M, Valente

EM, Bentivoglio AR. Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of

two Italian families. Mov Disord 2014;29:1561-1566.

43. Theuns J, Verstraeten A, Sleegers K, Wauters E, Gijselinck I, Smolders S, Crosiers D, Corsmit E,

Elinck E, Sharma M, Krüger R, Lesage S, Brice A, Chung SJ, Kim MJ, Kim YJ, Ross OA, Wszolek

ZK, Rogaeva E, Xi Z, Lang AE, Klein C, Weissbach A, Mellick GD, Silburn PA, Hadjigeorgiou GM,

Dardiotis E, Hattori N, Ogaki K, Tan EK, Zhao Y, Aasly J, Valente EM, Petrucci S, Annesi G,

Quattrone A, Ferrarese C, Brighina L, Deutschländer A, Puschmann A, Nilsson C, Garraux G,

LeDoux MS, Pfeiffer RF, Boczarska-Jedynak M, Opala G, Maraganore DM, Engelborghs S, De

Deyn PP, Cras P, Cruts M, Van Broeckhoven C; GEO-PD Consortium. Global investigation and

meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. Neurology 2014;83:1906-

1913.

44. Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel

H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J,

Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C,

Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ. Mutation of POC1B in a

Severe Syndromic Retinal Ciliopathy. Hum Mutat 2014;35:1153-1162.

45. Romani S, Illi B, De Mori R, Savino M, Gleeson JG, Valente EM. The ciliary proteins Meckelin

and Jouberin are required for retinoic acid-dependent neural differentiation of mouse

embryonic stem cells. Differentiation 2014;87:134-146.

46. Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T,

Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N,

Valente EM. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the

genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J Rare Dis 2014;9:72.

47. Poretti A, Boltshauser E, Valente EM. The molar tooth sign is pathognomonic for Joubert

syndrome! Pediatr Neurol 2014;50:e15-16.

48. Zanni G, Barresi S, Cohen R, Specchio N, Basel-Vanagaite L, Valente EM, Shuper A, Vigevano F,

Bertini E. A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes

Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Epilepsy Res 2014;108: 811-815.

49. Bonanni L, Onofrj M, Valente EM, Manzoli L, De Angelis MV, Capasso M, Thomas A. Recurrent

and fatal akinetic crisis in genetic-mitochondrial parkinsonisms. Eur J Neurol 2014;21:1242-

1246.

50. Brandsma R, Spits AH, Kuiper MJ, Lunsing RJ, Burger H, Kremer HP, Sival DA; The Childhood

Ataxia and Cerebellar Group. Ataxia rating scales are age-dependent in healthy children. Dev

Med Child Neurol 2014;56:556-563

51. Petrucci S, Consoli F, Valente EM. Parkinson Disease Genetics: A "Continuum" From Mendelian

to Multifactorial Inheritance. Curr Mol Med 2014;8:1079-1088.

52. Lohmann K, Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, Bentivoglio AR, Borngräber

F, Brüggemann N, Defazio G, Del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gómez-Garre P,

Graf J, Groen JL, Grünewald A, Hagenah J, Hemmelmann C, Jabusch HC, Kaji R, Kasten M,

Kawakami H, Kostic VS, Liguori M, Mir P, Münchau A, Ricchiuti F, Schreiber S, Siegesmund K,

Svetel M, Tijssen MA, Valente EM, Westenberger A, Zeuner KE, Zittel S, Altenmüller E, Ziegler

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A, Klein C. Genome-wide association study in musician's dystonia: A risk variant at the

arylsulfatase G locus? Mov Disord 2014;29:921-927.

53. Valente EM, Rosti RO, Gibbs E, Gleeson JG. Primary cilia in neurodevelopmental disorders. Nat

Rev Neurol 2014;10:27-36.

54. Madeo G, Schirinzi T, Martella G, Latagliata EC, Puglisi F, Shen J, Valente EM, Federici M,

Mercuri NB, Puglisi-Allegra S, Bonsi P, Pisani A. PINK1 heterozygous mutations induce subtle

alterations in dopamine-dependent synaptic plasticity. Mov Disord 2014;29:41-53.

55. Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I,

Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet

S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM,

Jackson PK, Drummond IA, Saunier S, Attié-Bitach T. A homozygous PDE6D mutation in

Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

Hum Mutat 2014;35:137-146.

56. Poretti A, Häusler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G,

Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E. Ataxia, Intellectual

Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease? Cerebellum 2014;13:79-

88.

57. Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA,

Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese

C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B,

Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick

GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH,

Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR,

Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA;

Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. The protective effect of

LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.

Neurobiol Aging 2014;35:266.e5-266.e14.

58. Mory A, Dagan E, Shahor I, Mandel H, Illi B, Zolotushko J, Kurolap A, Chechik E, Valente EM,

Amselem S, Gershoni-Baruch R. Kohlschutter-Tonz Syndrome: Clinical and Genetic Insights

Gained From 16 Cases Deriving From a Close-Knit Village in Northern Israel. Pediatr Neurol

2014;50:421-426.

59. Castellana S, Romani M, Valente EM, Mazza T. A solid quality-control analysis of AB SOLiD

short-read sequencing data. Brief Bioinform 2013;6:684-695.

60. Romani M, Micalizzi A, Valente EM. Joubert syndrome: cerebellar congenital ataxia with the

molar tooth. Lancet Neurol 2013;12:894-905.

61. Carecchio M, Magliozzi M, Copetti M, Ferraris A, Bernardini L, Bonetti M, Defazio G, Edwards

MJ, Torrente I, Pellegrini F, Comi C, Bhatia KP, Valente EM. Defining the epsilon-sarcoglycan

(SGCE) phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.

Mov Disord 2013;28:787-794.

62. Elia A, Petrucci S, Fasano A, Guidi M, Valbonesi S, Bernardini L, Consoli F, Ferraris A, Albanese

A, Valente EM. Alpha-synuclein gene duplication: marked intrafamilial variability in two novel

pedigrees. Mov Disord 2013;28:813-817.

63. Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M,

Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A,

Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP,

Boczarska-Jedynak M, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S,

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Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Petrucci S,

Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J,

Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilariño-

Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA; on behalf

of the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Population-specific

frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's

disease (GEO-PD) consortium. Mov Disord 2013;28:1740-1744.

64. Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof

A, Kósa M, Zádor E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, van Kuppevelt

TH, Dallapiccola B, van Engelen BG, Ferlini A, Tomelleri G. SERCA1 protein expression in

muscle of patients with Brody disease and Brody syndrome and in cultured human muscle

fibers. Mol Gen Metab 2013;110:162-169.

65. Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E,

Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM,

Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS, the International JSRD Study

Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Phenotypic spectrum and

prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet

2013;21:1074-1078.

66. Valente EM, Dallapiccola B, Bertini E. Joubert syndrome and related disorders. Handb Clin

Neurol. 2013;113:1879-1888.

67. Valente EM, Brancati F, Boltshauser E, Dallapiccola B. Clinical utility gene card for: Joubert

syndrome - update 2013. Eur J Hum Genet 2013;21(10).

68. Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E,

Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E,

Tarani L; Italian CBCD Study Group, Bertini E, Dallapiccola B, Valente EM. Dandy-Walker

malformation and Wisconsin syndrome: novel cases add further insight into the genotype-

phenotype correlations of 3q23q25 deletions. Orphanet J Rare Dis 2013;8:75.

69. Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB,

Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M,

Hai HD, Viet LT, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG.

Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-

Walker Malformation and Occipital Cephaloceles. Hum Mutat 2013;34:1075-1079.

70. Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I,

Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM,

Alkuraya FS, Edwards MJ, Bhatia KP. The syndrome of deafness-dystonia: Clinical and genetic

heterogeneity. Mov Disord 2013;28:795-803.

71. Onofrj M, Varanese S, Bonanni L, Taylor JP, Antonini A, Valente EM, Petrucci S, Stocchi F,

Thomas A, Perfetti B. Cohort study of prevalence and phenomenology of tremor in dementia

with Lewy bodies. J Neurol 2013;260:1731-1742.

72. Petrucci, S, Valente EM. Novel genes and novel pathogenetic mechanisms in adult-onset

primary dystonia. Mov Disord 2013;28:440.

73. Arena G, Gelmetti V, Torosantucci L, Vignone D, Lamorte G, De Rosa P, Cilia E, Jonas EA,

Valente EM. PINK1 protects against cell death induced by mitochondrial depolarization, by

phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage. Cell Death Differ

2013;20:920-930.

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74. Sheerin UM, Stamelou M, Charlesworth G, Shiner T, Spacey S, Valente EM, Wood NW, Bhatia

KP. Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J

Neurol 2013;260:656-660.

75. Quattrocchi CC, Zanni G, Napolitano A, Longo D, Cordelli DM, Barresi S, Randisi F, Valente EM,

Verdolotti T, Genovese E, Specchio N, Vitiello G, Spiegel R, Bertini E, Bernardi B. Conventional

magnetic resonance imaging and diffusion tensor imaging studies in children with novel

GPR56 mutations: further delineation of a cobblestone-like phenotype. Neurogenetics

2013;14:77-83.

76. Stefani A, Marzetti F, Pierantozzi M, Petrucci S, Olivola E, Galati S, Bassi MS, Imbriani P, Valente

EM, Pastore FS. Successful subthalamic stimulation, but levodopa-induced dystonia, in a

genetic Parkinson's disease. Neurol Sci 2013;34:383-386.

77. Lenzi P, Marongiu R, Falleni A, Gelmetti V, Busceti CL, Michiorri S, Valente EM, Fornai F. A

subcellular analysis of genetic modulation of PINK1 on mitochondrial alterations, autophagy

and cell death. Arch Ital Biol 2012;150:194-217.

78. Gardiner A, Bhatia K, Stamelou M, Dale R, Kurian M, Schneider S, Wali GM, Counihan T,

Sheerin U, Spacey S, Valente EM, Silveira-Moriyama L, Sander L, Lees A, Warner T, Kullmann D,

Wood N, Hanna M, Houlden H. PRRT2 gene mutations: from paroxysmal dyskinesia to

episodic ataxia and hemiplegic migraine. Neurology 2012;79:2115-2121.

79. Klionsky DJ, Abdalla FC, Abeliovich H, …Valente EM… et al. Guidelines for the use and

interpretation of assays for monitoring autophagy. Autophagy 2012;8:445-544.

80. Palada V, Stirn S, Glöckle N, Gómez-Garre P, Carrillo F, Mir P, Szczaluba K, Tinazzi M, Ajena D,

Romani M, Valente EM, Müller U, Riess O, Ott T, Grundmann K. Lack of sequence variations in

THAP1 gene and THAP1 binding sites in TOR1A promotor of European DYT1 dystonia

patients. Mov Disord 2012;27:917

81. Poretti A, Vitiello G, Hennekam RCM, Arrigoni F, Bertini E, Borgatti R, Brancati F, D’Arrigo S,

Faravelli F, Giordano L, Huisman TAGM, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees

MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM*,

Boltshauser E*. *Joint corresponding authors. Delineation and Diagnostic Criteria of Oral-

Facial-Digital Syndrome Type VI. Orphanet J Rare Dis 2012;7:4.

82. Mory A, Dagan E, Illi B, Duquesnoy P, Mordechai S, Shahor I, Romani S, Hawash-Moustafa N,

Mandel H, Valente EM , Amselem S, Gershoni-Baruch R. A Nonsense Mutation in the Human

Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome. Am J Hum Genet

2012;90:708-714.

83. Valente EM, Arena G, Torosantucci L, Gelmetti V. Molecular pathways in sporadic PD.

Parkinsonism Relat Disord 2012;18S1:S71-S73.

84. Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Gabriel SB, Brancati

F, Iannicelli M, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH,

Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters E, Ferro-Novick S, Woods GC,

Johnson CA, Valente EM, Zaki MS, Gleeson JG. Evolutionarily assembled cis-regulatory module

at a human ciliopathy locus. Science 2012; 335:966-969

85. Terracciano A, Renaldo F, Zanni G, D'Amico A, Pastore A, Barresi S, Valente EM, Piemonte F,

Tozzi G, Carrozzo R, Valeriani M, Boldrini R, Mercuri E, Santorelli FM, Bertini E. The use of

muscule biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. Eur J

Ped Neurol 2012;16:248-256.

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86. Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M,

Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie

CM, Lee JH, Raynes HR, Rapin I, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F,

Johnson CA, Doherty DA, Valente EM, Gleeson JG. CEP41 is mutated in Joubert syndrome

ans is required for tubulin glutamylation at the cilium. Nat Genet 2012;44:193-199.

87. Del Sorbo F, Brancati F, De Joanna G, Valente EM, Lauria G, Albanese A. Primary Focal

Hyperhidrosis in a New Family Not Linked to Known Loci. Dermatology 2011;223:335-342.

88. Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM,

Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A,

Vanbesien-Mailliot C, Kreisler A, Ross OA, Nishioka K, Soto-Ortolaza AI, Cobb SA, Melrose HL,

Behrouz B, Keeling BH, Bacon JA, Hentati E, Williams L, Yanagiya A, Sonenberg N, Lockhart PJ,

Zubair AC, Uitti RJ, Aasly JO, Krygowska-Wajs A, Opala G, Wszolek ZK, Frigerio R, Maraganore

DM, Gosal D, Lynch T, Hutchinson M, Bentivoglio AR, Valente EM, Nichols WC, Pankratz N,

Foroud T, Gibson RA, Hentati F, Dickson DW, Destée A, Farrer MJ. Translation initiator EIF4G1

mutations in familial Parkinson disease. Am J Hum Genet 2011;89:398-406.

89. Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S,

Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson

DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou

GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E,

Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS,

Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J,

Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR,

Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ; on behalf of the Genetic Epidemiology Of

Parkinson's Disease (GEO-PD) Consortium. Association of LRRK2 exonic variants with

susceptibility to Parkinson's disease: a case-control study. Lancet Neurol 2011;10:898-908.

90. Valente EM, Albanese A. "Gluing" phenotypes together: the case of GLUT1. Neurology

2011;77:934-935.

91. Briguglio M, Pinelli L, Giordano L, Ferraris A, Germanò E, Micheletti S, Severino M, Bernardini L,

Loddo S, Tortorella G, Ormitti F, Gasparotti R; CBCD Study Group, Rossi A, Valente EM.

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent

patients. Orphanet J Rare Dis 2011;6:36.

92. Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S,

Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. FGF17, a

gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker

malformation carrying a de novo 8p deletion. Neurogenetics 2011;12:241-245.

93. Valente EM, Brancati F, Boltshauser E, Dallapiccola B. Clinical utility gene card for: Joubert

syndrome. Eur J Hum Genet 2011;19(9) doi: 10.1038/ejhg.2011.49.

94. Lo HP, Bertini E, Mirabella M, Domazetovska A, Dale RC, Petrini S, D'Amico A, Valente EM,

Barresi R, Roberts M, Tozzi G, Tasca G, Cooper ST, Straub V, North KN. Mosaic caveolin-3

expression in acquired rippling muscle disease without evidence of myasthenia gravis or

acetylcholine receptor autoantibodies. Neuromuscul Disord 2011;21:194-203.

95. Modoni A, Dʼamico A, Dallapiccola B, Mereu ML, Merlini L, Pagliarani S, Pisaneschi E, Silvestri

G, Torrente I, Valente EM, Lo Monaco M. Low-Rate Repetitive Nerve Stimulation Protocol in an

Italian Cohort of Patients Affected by Recessive Myotonia Congenita. J Clin Neurophysiol

2011;28:39-44.

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96. Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina

L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou

GM, Jasinska-Myga B, Klein C, Krüger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA,

Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M,

Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt K, Wszolek ZK,

Xiromerisiou G, Maraganore DM, Farrer MJ; on behalf of the Genetic Epidemiology of

Parkinson's Disease (GEO-PD) consortium. Independent and joint effects of the MAPT and

SNCA genes in Parkinson disease. Ann Neurol 2011;69:778-792.

97. Valente EM, Albanese A. Advances in the genetics of primary torsion dystonia. F1000 Biol

Rep. 2010;2:41.

98. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J

Rare Dis 2010;5:20.

99. Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L,

Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro

CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH,

Davis E, Mikula M, Strom CM, Ben-Ze’ev B, Lev D, Lerman Sagie T, Michelson M, Yaron Y,

Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C,

Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach

T, Gleeson JG. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and

related syndromes. Nat Genet 2010;42:619-625.

100. Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L,

Gomes C, Luigi Ardissino G, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy

B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F,

Pantaleoni C, Penzien J, Grammatico P, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM.

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related

ciliopathies. Hum Mutat 2010;31:E1319-1331.

101. Michiorri S, Gelmetti V, Giarda E, Lombardi F, Romano F, Marongiu R, Nerini-Molteni S, Sale P,

Vago R, Arena G, Torosantucci L, Cassina L, Russo MA, Dallapiccola B, Valente EM*, Casari G*

(*joint corresponding authors). The Parkinson-associated protein PINK1 interacts with Beclin1

and promotes autophagy. Cell Death Differ 2010;17:962-974.

102. Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M,

Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K.

Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.

Neurobiol Dis 2010;38:192-200.

103. Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA,

Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C,

Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F,

Valente EM, Williams DS, Gleeson JG. AHI1 is required for photoreceptor outer segment

development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet

2010;42:175-180.

104. Sturm V, Leiba H, Menke MN, Valente EM, Poretti A, Landau K, Boltshauser E.

Ophthalmological findings in Joubert syndrome. Eye 2010;24:222-225.

105. Poretti A, Dietrich Alber F, Brancati F, Dallapiccola B, Valente EM, Boltshauser E. Normal

cognitive functions in Joubert syndrome. Neuropediatrics 2009;40:287-290.

106. Bonetti M, Barzaghi C, Brancati F, Ferraris A, Bellacchio E, Giovanetti A, Ialongo T, Zorzi G,

Piano C, Petracca M, Albanese A, Nardocci N, Dallapiccola B, Bentivoglio AR, Garavaglia B,

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Valente EM. Mutation screening of the DYT6/THAP1 gene in Italy. Mov Disord 2009;24:2324-

2327.

107. Ferraris A, Ialongo T, Passali GC, Pellecchia MT, Brusa L, Laruffa M, Guidubaldi A, Paludetti G,

Albanese A, Barone P, Dallapiccola B, Valente EM, Bentivoglio AR. Olfactory dysfunction in

parkinsonism caused by PINK1 mutations. Mov Disord 2009;24:2350-2357.

108. Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S,

Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume

J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC,

Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-

Bitach T. CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-

phenotype correlation. Hum Mutat 2009;30:1574-1582.

109. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M,

Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, International JSRD Study Group,

Dallapiccola B, Gleeson JG, Valente EM. Expanding CEP290 mutational spectrum in

ciliopathies. Am J Med Genet A 2009;149A:2173-2180.

110. Bielas S, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS,

Abdel-Aleem A, Rosti O, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E,

Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente

EM, Gleeson JG. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link

phosphatidyl inositol signaling to the ciliopathies. Nat Genet 2009;41:1032-1036.

111. Bonetti M, Ferraris A, Petracca M, Bentivoglio AR, Dallapiccola B, Valente EM. GIGYF2 variants

are not associated with Parkinson's disease in Italy. Mov Disord 2009;24:1867-1868.

112. Martino D, Muglia M, Abbruzzese G, Berardelli A, Girlanda P, Liguori M, Livrea P, Quattrone A,

Roselli F, Sprovieri T, Valente EM, Defazio G. Brain-derived neurotrophic factor and risk for

primary adult-onset cranial-cervical dystonia. Eur J Neurol 2009;16:949-952.

113. Giordano L, Vignoli A, Pinelli L, Brancati F, Accorsi P, Faravelli F, Gasparotti R, Granata T,

Giaccone G, Inverardi F, Frassoni C, Dallapiccola B, Valente EM, Spreafico R. Joubert syndrome

with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. Am J

Med Genet A 2009;149A:1511-1515.

114. Defazio G, Matarin M, Peckham EL, Martino D, Valente EM, Singleton A, Crawley A, Aniello MS,

Brancati F, Abbruzzese G, Girlanda P, Livrea P, Hallett M, Berardelli A. The TOR1A

polymorphism rs1182 and the risk of spread in primary blepharospasm. Mov Disord

2009;24:713-716.

115. Marongiu R, Spencer B, Crews L, Adame A, Patrick C, Trejo M, Dallapiccola B, Valente EM,

Masliah E. Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of

Parkinson’s disease by disturbing calcium flux. J Neurochem 2009;108:1561-1574.

116. Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D’Arrigo S, Emma F,

Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro

CD, Signorini S, Stringini GR, Verloes A, Zabloka D, the International JSRD Study Group,

Dallapiccola B, Gleeson JG, Valente EM. MKS3/TMEM67 mutations are a major cause of

COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat

2009;30:E432-E442.

117. Valente EM, Ferraris A, Dallapiccola B. Genetic testing for paediatric neurological disorders.

Lancet Neurol 2008;7:1113-1126.

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118. Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T,

Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA,

Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert

Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG. Mutations in

the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet

2008;83:170-179.

119. Koukouni V, Valente EM, Cordivari C, Bhatia KP, Quinn NP. Unusual familial presentation of

epsilon-sarcoglycan gene mutation with falls and writer’s cramp. Mov Disord 2008;23:1913-

1915.

120. Fiorio M, Valente EM, Gambarin M, Bentivoglio AR, Ialongo T, Albanese A, Barone P, Pellecchia

MT, Brancati F, Moretto G, Fiaschi A, Tinazzi M. Subclinical sensory abnormalities in unaffected

PINK1 heterozygotes. J Neurol 2008;255:1372-1377.

121. Fiorio M, Gambarin M, Defazio G, Valente EM, Stanzani C, Moretto G, Loi M, Soliveri P,

Nardocci N, Albanese A, Fiaschi A, Tinazzi M. Impaired body movement representation in

DYT1 mutation carriers. Clin Neurophysiol 2008;119:1864-1869.

122. Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy J, Barrano G,

Bertini E, Emma F, Rigoli L, The International JSRD Study Group, Dallapiccola B, Gleeson J,

Valente EM. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of

Joubert syndrome-related disorders. Clin Genet 2008;74:164-170.

123. Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F,

Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ,

Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J,

Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L,

Chitayat D, Vikkula M. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and

other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 2008;29:959-

965.

124. Gelmetti V, Ferraris A, Brusa L, Romano F, Lombardi F, Barzaghi C, Stanzione P, Garavaglia B,

Dallapiccola B, Valente EM. Late onset sporadic Parkinson’s disease caused by PINK1

mutations: clinical and functional study. Mov Disord 2008;23:881-885.

125. Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A,

Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G,

Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B,

Dallapiccola B, Bentivoglio AR, Valente EM. PINK1 heterozygous rare variants: prevalence,

significance and phenotypic spectrum. Hum Mutat 2008;29:565.

126. Valente EM, Brancati F, Dallapiccola B. Genotypes and phenotypes of Joubert Syndrome and

Related Disorders. Eur J Med Genet 2008;51:1-23.

127. Hallett M, Evinger C, Jankovic J, Stacy M; BEBRF International Workshop. Update on

blepharospasm: report from the BEBRF International Workshop. Neurology 2008;71:1275-

1282.

128. Poretti A, Boltshauser E, Loenneker T, Valente EM, Brancati F, Il’Yasov K, Huisman TAGM.

Diffusion tensor imaging in Joubert sindrome. Am J Neuroradiol 2007;28:1929-1933.

129. Scarciolla O, Brancati F, Valente EM, Ferraris A, De Angelis MV, Valbonesi S, Garavaglia B,

Uncini A, Palka G, Stuppia L, Dallapiccola B. Multiplex Ligation-dependent Probe Amplification

(MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements. Mov

Disord 2007;22:2274-2278.

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130. Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Attard Montalto S, Bacino

CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N,

Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE,

Christen HJ, Corry PC, Cowan FM, Cox H, D’arrigo S, Dean J, De Laet C, De Praeter C, Déry C,

Ferrie CD, Flintoff K, Frints SGM, Garcia-Cazorla A, Gener B, Goizet C, Goutières F, Green AJ,

Guët A, Hamel BCJ, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga

R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg

AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ,

Livingston JH, Lourenco CM, Lyall EGH, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam

R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Østergaard JR, Prendiville J,

Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann

R, Scholl-Bürgi S, Seal S, Shalev SA, Sierra Corcoles C, Sinha GP, Soler D, Spiegel R,

Stephenson JBP, Tacke U, Tan T, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van

Coster RNA, Van der Aa N, Vanderver A, Vles JSH, Voit T, Wassmer E, Weschke B, Whiteford

ML, Willemsen MAA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ. Clinical and

molecular phenotype of Aicardi-Goutières syndrome. Am J Hum Genet 2007;81:713-725.

131. Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C,

Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, Banfi S. Clinical

and molecular genetics of Leber’s congenital amaurosis (LCA): a multi-center study of Italian

patients. Invest Ophthalmol Vis Sci 2007;48:4284-4290.

132. Valente EM, Ferraris A. Heterozygous mutations in genes causing parkinsonism: monogenic

disorders go complex. Lancet Neurol 2007;6:576-578.

133. Galli M, Cimolin V, Valente EM, Crivellini M, Ialongo T, Albertini G. Computerized gait analysis

of botulinum toxin treatment in children with cerebral palsy. Disabil Rehabil 2007;29:659-

664.

134. Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D,

Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D’Hooghe M, Fazzi E, Fenerci EY, Hennekam

RCM, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro SD, Sherr EH,

Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B, The

International JSRD Study Group, Valente EM, Gleeson JG. CEP290 Mutations Are Frequently

Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders. Am J Hum Genet

2007;81:104-113.

135. Clarimon J, Brancati F, Peckham E, Valente EM, Dallapiccola B, Abbruzzese G, Girlanda P,

DeFazio G, Berardelli A, Hallett M, Singleton AB. Assessing the role of DRD5 and DYT1 in two

different case-control series with primary blepharospasm. Mov Disord 2007;22:162-166.

136. Marongiu R, Brancati F, Antonini A, Ialongo T, Ceccarini C, Scarciolla O, Capalbo A, Benti R,

Pezzoli G, Dallapiccola B, Goldwurm S, Valente EM. Whole gene deletion and splicing

mutations expand the PINK1 genotypic spectrum. Hum Mutat 2007;28:98.

137. Fiorio M, Gambarin M, Valente EM, Liberini P, Loi M, Cossu G, Moretto G, Bhatia KP, Defazio G,

Aglioti SM, Fiaschi A, Tinazzi M. Defective temporal processing of sensory stimuli in DYT1

mutation carriers: a new endophenotype of dystonia? Brain 2007;130:134-142.

138. Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan

J, Raashid Y, Al-Gazali L, Hamamy H, Valente EM, Gorman S, Williams R, McHale DP, Wood JN,

Gribble FM, Woods CG. An SCN9A channelopathy causes congenital inability to experience

pain. Nature 2006;444:894-898.

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139. Caridi G, Dagnino M, Rossi A, Valente EM, Bertini E, Fazzi E, Emma F, Murer L, Verrina E,

Ghiggeri GM. Nephronophthisis type 1 deletion syndrome with neurological symptoms:

Prevalence and significance of the association. Kidney Int 2006;70:1342-1347.

140. Gambarin M, Valente EM, Liberini P, Barrano G, Bonizzato A, Padovani A, Moretto G, Fiorio M,

Dallapiccola B, Smania N, Fiaschi A, Tinazzi M. Atypical phenotypes and clinical variability in a

large Italian family with DYT1-primary torsion dystonia. Mov Disord 2006;21:1782-1784.

141. Criscuolo C, Volpe G, De Rosa A, Varrone A, Marongiu R, Mancini P, Salvatore E, Dallapiccola

B, Filla A, Valente EM, De Michele G. PINK1 homozygous W437X mutation in a patient with

apparent dominant transmission of parkinsonism. Mov Disord 2006;21:1265-1267.

142. Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, Bouslam N, Cassandrini

D, Denora PS, Criscuolo C, Belarbi S, Orlacchio A, Jonveaux P, Silvestri G, Hernandez AM, De

Michele G, Tazir M, Mariotti C, Brockmann K, Malandrini A, van der Knapp MS, Neri M,

Tonekaboni H, Melone MA, Tessa A, Dotti MT, Tosetti M, Pauri F, Federico A, Casali C, Cruz VT,

Loureiro JL, Zara F, Forlani S, Bertini E, Coutinho P, Filla A, Brice A, Santorelli FM. Spastic

paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11

locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics

2006;7:149-156.

143. Marongiu R, Ghezzi D, Ialongo T, Soleti F, Elia A, Cavone S, Albanese A, Altavista MC, Barone P,

Brusa L, Cortelli P, Petrozzi L, Scaglione C, Stanzione P, Tinazzi M, Zeviani M, Dallapiccola B,

Bentivoglio AR, Valente EM, Garavaglia B. Frequency and phenotypes of LRRK2 G2019S

mutation in Italian patients with Parkinson's disease. Mov Disord 2006;21:1232-1235.

144. Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA,

Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, Related

Disorders Study Group IJ, Bertini E, Dallapiccola B, Gleeson JG. Mutations in CEP290, which

encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet

2006;38:623-625.

145. Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki

MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB,

Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D,

Dallapiccola B, Gleeson JG; International JSRD Study Group. AHI1 gene mutations cause

specific forms of Joubert syndrome-related disorders. Ann Neurol 2006;59:527-534.

146. Defazio G, Martino D, Aniello MS, Masi G, Abbruzzese G, Lamberti S, Valente EM, Brancati F,

Livrea P, Berardelli A. A family study on primary blepharospasm. J Neurol Neurosurg

Psychiatry 2006;77:252-254.

147. Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B, Valente EM, Casari G.

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive

parkinsonism. Hum Mol Genet 2005;14:3477-3492.

148. Castori M, Valente EM, Clementi M, Tormene AP, Brancati F, Caputo V, Dallapiccola B. A novel

locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of

retinal dystrophies. Invest Ophthalmol Vis Sci 2005;46:3539-3544.

149. Pedrini E, De Luca A, Valente EM, Maini V, Capponcelli S, Mordenti M, Mingarelli R, Sangiorgi

L, Dallapiccola B. Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with

multiple osteochondromas. Hum Mutat 2005;26:280.

150. Albanese A, Valente EM, Romito LM, Bellacchio E, Elia AE, Dallapiccola B. The PINK1

phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology

2005;64:1958-1960.

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151. Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, Scarano V, Bonuccelli U, Bentivoglio AR,

D'Amico A, Marelli C, Di Giorgio A, Coubes P, Barone P, Dallapiccola B. The diverse phenotype

and genotype of pantothenate kinase-associated neurodegeneration. Neurology

2005;64:1810-1812.

152. Castelnau P, Cif L, Valente EM, Vayssiere N, Hemm S, Gannau A, Digiorgio A, Coubes P.

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration. Ann

Neurol 2005;57:738-741.

153. Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C,

Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig

M, Dallapiccola B, Gleeson JG. Distinguishing the four genetic causes of Jouberts syndrome-

related disorders. Ann Neurol 2005;57:513-519.

154. Valente EM, Edwards MJ, Mir P, DiGiorgio A, Salvi S, Davis M, Russo N, Bozi M, Kim HT, Pennisi

G, Quinn N, Dallapiccola B, Bhatia KP. The epsilon-sarcoglycan gene in myoclonic syndromes.

Neurology 2005;64:737-739.

155. Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, Galluccio T, Emma F,

Dallapiccola B, Bertini E,- Italian MTS Study Group. NPHP1 gene deletion is a rare cause of

Joubert syndrome related disorders. J Med Genet 2005;42:e9.

156. Fabbrini G, Brancati F, Vacca L, Valente EM, Nemeth A, Meesaq A, Sykes N, Dallapiccola B,

Berardelli A. A novel family with an unusual early-onset generalized dystonia. Mov Disord

2005;20:81-86.

157. Whone AL, Von Spiczak S, Edwards M, Valente EM, Hammers A, Bhatia KP, Brooks DJ. Opioid

binding in DYT1 primary torsion dystonia: an 11C-diprenorphine PET study. Mov Disord

2004;19:1498-1503.

158. Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A,

Dallapiccola B, Bentivoglio AR. PINK1 mutations are associated with sporadic early-onset

parkinsonism. Ann Neurol 2004;56:336-341.

159. Woods CG, Valente EM, Bond J, Roberts E. A new method for autozygosity mapping using

single nucleotide polymorphisms (SNPs) and EXCLUDEAR. J Med Genet 2004;41:e101.

160. Cif L, Valente EM, Hemm S, Coubes C, Vayssiere N, Serrat S, Di Giorgio A, Coubes P. Deep

brain stimulation in myoclonus-dystonia syndrome. Mov Disord 2004;19:724-727.

161. Valente EM, Abou-Sleiman PM, Caputo V, Muqit MM, Harvey K, Gispert S, Ali Z, Del Turco D,

Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S,

Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW.

Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science

2004;304:1158-1560.

162. Novelli A, Valente EM, Bernardini L, Ceccarini C, Sinibaldi L, Caputo V, Cavalli P, Dallapiccola B.

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1)

translocation in an Italian family. Eur J Hum Genet 2004;12:579-583.

163. Brancati F, Valente EM, Sarkozy A, Feher J, Castori M, Del Duca P, Mingarelli R, Pizzuti A,

Dallapiccola B. A locus for autosomal dominant keratoconus maps to human chromosome

3p14-q13. J Med Genet 2004;41:188-192.

164. Bentivoglio AR, Ialongo T, Contarino MF, Valente EM, Albanese A. Phenotypic characterization

of DYT13 primary torsion dystonia. Mov Disord 2004;19:200-206.

165. Casali C, Valente EM, Bertini E, Montagna G, Criscuolo C, De Michele G, Villanova M, Damiano

M, Pierallini A, Brancati F, Scarano V, Tessa A, Cricchi F, Grieco GS, Muglia M, Carella M,

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Martini B, Rossi A, Amabile GA, Nappi G, Filla A, Dallapiccola B, Santorelli FM. Clinical and

genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology

2004;62:262-268.

166. Healy DG, Abou-Sleiman PM, Valente EM, Gilks WP, Bhatia K, Quinn N, Lees AJ, Wood NW.

DJ-1 mutations in Parkinson's disease. J Neurol Neurosurg Psychiatry 2004;75:144-145.

167. Bentivoglio AR, Elia AE, Filippini G, Valente EM, Fasano A, Albanese A. Clinical presentation

and progression of sporadic and familial primary torsion dystonia in Italy. Adv Neurol

2004;94:171-178.

168. Brancati F, Valente EM, Tadini G, Caputo V, Di Benedetto A, Gelmetti C, Dallapiccola B.

Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary

malformation on chromosome 5q14. J Med Genet 2003;40:849-853.

169. Valente EM, Misbahuddin A, Brancati F, Placzek MR, Garavaglia B, Salvi S, Nemeth A, Shaw-

Smith C, Nardocci N, Bentivoglio AR, Berardelli A, Eleopra R, Dallapiccola B, Warner TT.

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia:

evidence for genetic heterogeneity. Mov Disord 2003;18:1047-1051.

170. Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, Pizzuti A, Hanna

MG, Dallapiccola B. Severe infantile hyperkalaemic periodic paralysis and paramyotonia

congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. J

Neurol Neurosurg Psychiatry 2003;74:1339-1341.

171. Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola

B. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the

molar tooth malformation. Am J Hum Genet 2003;73:663-670.

172. Brancati F, Valente EM, Castori M, Vanacore N, Sessa M, Galardi G, Berardelli A, Bentivoglio

AR, Defazio G, Girlanda P, Abbruzzese G, Albanese A, Dallapiccola B; Italian Movement

Disorder Study Group. Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for

cervical dystonia. J Neurol Neurosurg Psychiatry 2003;74:665-666.

173. Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J,

Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E. Infantile ascending hereditary

spastic paralysis (IAHSP): clinical features in 11 families. Neurology 2003;60:674-682.

174. Defazio G, Brancati F, Valente EM, Caputo V, Pizzuti A, Martino D, Abbruzzese G, Livrea P,

Berardelli A, Dallapiccola B. Familial blepharospasm is inherited as an autosomal dominant

trait and relates to a novel unassigned gene. Mov Disord 2003;18:207-212.

175. Valente EM, Brancati F, Caputo V, Graham EA, Davis MB, Ferraris A, Breteler MM, Gasser T,

Bonifati V, Bentivoglio AR, De Michele G, Durr A, Cortelli P, Filla A, Meco G, Oostra BA, Brice A,

Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in

Parkinson's Disease. PARK6 is a common cause of familial parkinsonism. Neurol Sci 2002;23

Suppl 2:S117-118.

176. Khan NL, Valente EM, Bentivoglio AR, Wood NW, Albanese A, Brooks DJ, Piccini P. Clinical and

subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study.

Ann Neurol 2002;52:849-853.

177. Bentivoglio AR, Loi M, Valente EM, Ialongo T, Tonali P, Albanese A. Phenotypic variability of

DYT1-PTD: does the clinical spectrum include psychogenic dystonia? Mov Disord

2002;17:1058-1063.

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178. Spacey SD, Valente EM, Wali GM, Warner TT, Jarman PR, Schapira AH, Dixon PH, Davis MB,

Bhatia KP, Wood NW. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia:

evidence for a third EKD gene. Mov Disord 2002;17:717-725.

179. Valente EM, Brancati F, Caputo V, Bertini E, Patrono C, Costanti D, Dallapiccola B. Novel locus

for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome

9q33-q34. Ann Neurol 2002;51:681-685.

180. Brancati F, Defazio G, Caputo V, Valente EM, Pizzuti A, Livrea P, Berardelli A, Dallapiccola B.

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion

dystonia. Mov Disord 2002;17:392-397.

181. Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V,

Bentivoglio AR, De Michele G, Durr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo

V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European

Consortium on Genetic Susceptibility in Parkinson's Disease. PARK6-linked parkinsonism

occurs in several European families. Ann Neurol 2002;51:14-18.

182. Bentivoglio AR, Cortelli P, Valente EM, Ialongo T, Ferraris A, Elia A, Montagna P, Albanese A.

Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three

unrelated Italian families. Mov Disord 2001;16:999-1006.

183. Valente EM, Bentivoglio AR, Cassetta E, Dixon PH, Davis MB, Ferraris A, Ialongo T, Frontali M,

Wood NW, Albanese A. Identification of a novel primary torsion dystonia locus (DYT13) on

chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset. Neurol Sci

2001;22:95-96.

184. Valente EM, Bentivoglio AR, Cassetta E, Dixon PH, Davis MB, Ferraris A, Ialongo T, Frontali M,

Wood NW, Albanese A. DYT13, a novel primary torsion dystonia locus, maps to chromosome

1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset. Ann Neurol

2001;49:362-366.

185. Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, Albanese A, Wood

NW. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6,

on human chromosome 1p35-p36. Am J Hum Genet 2001;68:895-900.

186. Munchau A, Valente EM, Davis MB, Stinton V, Wood NW, Quinn NP, Bhatia KP. A Yorkshire

family with adult-onset cranio-cervical primary torsion dystonia. Mov Disord 2000;15:954-959.

187. Valente EM, Spacey SD, Wali GM, Bhatia KP, Dixon PH, Wood NW, Davis MB. A second

paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a

family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain

2000;123:2040-2045.

188. Munchau A, Valente EM, Shahidi GA, Eunson LH, Hanna MG, Quinn NP, Schapira AH, Wood

NW, Bhatia KP. A new family with paroxysmal exercise induced dystonia and migraine: a

clinical and genetic study. J Neurol Neurosurg Psychiatry 2000;68:609-614.

189. Albanese A, Bentivoglio AR, Del Grosso N, Cassetta E, Frontali M, Valente EM, Tonali P.

Phenotype variability of dystonia in monozygotic twins. J Neurol 2000;247:148-150.

190. Valente EM, Povey S, Warner TT, Wood NW, Davis MB. Detailed haplotype analysis in

Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the

DYT1 gene: evidence for a limited number of founder mutations. Ann Hum Genet 1999;63:1-

8.

191. Cassetta E, Del Grosso N, Bentivoglio AR, Valente EM, Frontali M, Albanese A. Italian family

with cranial cervical dystonia: clinical and genetic study. Mov Disord 1999;14:820-825.

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192. Jarman PR, del Grosso N, Valente EM, Leube B, Cassetta E, Bentivoglio AR, Waddy HM, Uitti RJ,

Maraganore DM, Albanese A, Frontali M, Auburger G, Bressman SB, Wood NW, Nygaard TG.

Primary torsion dystonia: the search for genes is not over. J Neurol Neurosurg Psychiatry

1999;67:395-397.

193. Valente EM, Warner TT, Jarman PR, Mathen D, Fletcher NA, Marsden CD, Bhatia KP, Wood

NW. The role of DYT1 in primary torsion dystonia in Europe. Brain 1998;121:2335-2239.

194. Bandmann O, Valente EM, Holmans P, Surtees RA, Walters JH, Wevers RA, Marsden CD, Wood

NW. Dopa-responsive dystonia: a clinical and molecular genetic study. Ann Neurol

1998;44:649-656.

195. Padua L, LoMonaco M, Gregori B, Valente EM, Padua R, Tonali P. Neurophysiological

classification and sensitivity in 500 carpal tunnel syndrome hands. Acta Neurol Scand

1997;96:211-217.

196. LoMonaco M, Padua L, Gregori B, Valente EM, Tonali P. Ulnar innervation of the thenar

eminence with preservation of median innervation of first lumbrical muscle. Muscle Nerve

1997;20:629-630.

197. Lomonaco M, Milone M, Valente EM, Padua L, Tonali P. Low-rate nerve stimulation during

regional ischemia in the diagnosis of muscle glycogenosis. Muscle Nerve 1996;19:1523-1529.

198. Padua L, LoMonaco M, Aulisa L, Tamburrelli F, Valente EM, Padua R, Gregori B, Tonali P.

Surgical prognosis in carpal tunnel syndrome: usefulness of a preoperative neurophysiological

assessment. Acta Neurol Scand 1996;94:343-346.

199. Padua L, LoMonaco M, Padua R, Gregori B, Valente EM, Tonali P. Suprascapular nerve

entrapment. Neurophysiological localization in 6 cases. Acta Orthop Scand 1996;67:482-484.

200. Padua L, LoMonaco M, Gregori B, Valente EM, Tonali P. Double-peaked potential in the

neurophysiological evaluation of carpal tunnel syndrome. Muscle Nerve 1996;19:679-680.

201. Padua L, Lo Monaco M, Valente EM, Tonali PA. A useful electrophysiologic parameter for

diagnosis of carpal tunnel syndrome. Muscle Nerve 1996;19:48-53.

Book chapters and invited reviews (without IF)

1. Mancini F, Romani M, Micalizzi A, Valente EM. Molecular Genetics of Joubert Syndrome.

Invited review in eLS. Chichester, John Wiley & Sons Ltd, 2014. doi:

10.1002/9780470015902.a0024288

2. Mancini F, Micalizzi A, Romani M, Valente EM. Joubert Syndrome. In: D’Arrigo S, Riva D,

Valente EM (eds): Pediatric Neurological Disorders with Cerebellar Involvement. Montrouge,

John Libbey Eurotext, 2014

3. Arena G, Valente EM. Mitochondria in Parkinson Disease. In: V.K. Gribkoff and E.A. Jonas (eds):

The Functions, Disease-Related Dysfunctions, and Therapeutic Targeting of Neuronal

Mitochondria. Hoboken, John Wiley & Sons, 2015

4. Petrucci S, Arena G, Valente EM. Genetics and molecular biology of Parkinson Disease. In: M.

LeDoux (ed): Movement disorders, 2nd ed. London, Elsevier, 2015.

5. Petrucci S, Valente EM. Genetic issues in the diagnosis of dystonias. Front Neurol 2013;4:34.

Invited review

6. Valente EM, Brancati F, Dallapiccola B. Joubert syndrome and related disorders. In: E.

Boltshauser, J.D. Schmahmann (eds): Cerebellar disorders of childhood. London, Mac Keith

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Press, 2011.

7. Valente EM, Albanese A. Advances in the genetics of primary torsion dystonia. F1000 Biol

Rep 2010;16:2. Invited review

8. Valente EM, Dallapiccola B, Bertini E. Joubert Syndrome and Related Disorders. In: O. Dulac, M.

Lassonde, H.B. Sarnat (eds): Pediatric Neurology - Handbook of Clinical Neurology, 3rd series.

Burlington, Elsevier, 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7.

9. Valente EM, Michiorri S, Arena G, Gelmetti V. PINK1: one protein, multiple neuroprotective

functions. Future Neurol 2009;4(5):575-90. Invited review

10. Ferraris A, Valente EM, Bentivoglio AR. Prevalence and phenotypic spectrum of PINK1

mutations in Parkinson’s disease. In: European Neurological Reviews, vol 4. London, Touch

Briefings, 2009.

11. Valente EM, Ferraris A. PINK1 (PARK6) and Parkinson’s Disease. In: A. Shapira, A. Lang, S. Fahn

(eds): Movement Disorders 4. Burlington, Elsevier, 2009

12. Bentivoglio AR, Elia AE, Filippini G, Valente EM, Fasano A, Albanese A. Clinical presentation

and progression of sporadic and familial primary torsion dystonia in Italy. In: S Fahn, M Hallett,

M De Long (eds): Advances in Neurology: Dystonia 4. Philadelphia, Lippincott Williams &

Wilkins, 2004

13. Bhatia KP, Valente EM. Episodic movement disorders as channelopathies. In: MR Rose, RC

Griggs (eds): Channelopathies of the nervous system. Oxford, Butterworth Heinmann, 2001

14. Muenchau A, Valente EM. Primäre kranio-zervikale Torsionsdystonia: 2 Familienstudien. In:

Siegenthaler, Haas (eds): Publikationen der Jung-Stiftung fur Wissenschaft und Forschung.

Hamburg, Thieme Verlag, 1999

15. Valente EM, Albanese A. Autres troubles du mouvement héréditaires. In: J Bogousslavsky, JL

Mas, JM Léger (eds): Traité de Neurologie; volume 3: Néurogénétique, affections hérédo-

dégénératives (A Brice, M Schorderet, eds). Vélizy-Villacoublay, Doin éditeurs, 1999