Results 91 to 100 of about 469 (142)

Huntington's Disease and Huntington's Disease-like 2 (HDL2) in Martinique. [PDF]

Mov Disord Clin Pract
Antolin-Sanfeliz I, Giguet-Valard AG, Duclos S, Cazeneuve C, Angelini C, Signaté A, Margolis RL, Goizet C, Bellance R.   +8 more
europepmc   +1 more source

Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism. [PDF]

Mov Disord Clin Pract, 2023
Casse F, Courtin T, Tesson C, Ferrien M, Noël S, Fauret-Amsellem AL, Gareau T, Guegan J, Anheim M, Mariani LL, Le Forestier N, Tranchant C, Corvol JC, Lesage S, Brice A, French Parkinson's disease genetics study group (PDG).   +15 more
europepmc   +1 more source

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants. [PDF]

Mov Disord
Westenberger A, Verdura E, Radefeldt M, Sanderson LE, Tripolszki K, Marcé-Grau A, Cazurro-Gutiérrez A, Nikoncuk A, Herzog R, Al-Ali R, Ferreira M, Almeida LS, Silveira TRD, Khan S, Maia RD, Klivényi P, Salamon A, Baltaci V, Subasioglu A, Prada-Arismendy J, Čuturilo G, Loens S, Tadic V, Maystadt I, Karadurmus D, Leube B, De Winter J, Monticelli A, De Waele L, Baets J, Vinkšel M, Maver A, Tschopp L, Ziegler G, Sanguinetti A, Lohmann K, Barakat TS, Bauer P, Perez-Dueñas B, Bertoli-Avella AM.   +39 more
europepmc   +1 more source

The inherited cerebellar ataxias: an update. [PDF]

J Neurol, 2023
Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M.   +5 more
europepmc   +1 more source

Screening of Hidden Pathogenic Structural Variants in PRKN. [PDF]

Mov Disord
Daida K, Cogan G, Tesson C, Lesage S, Schaake S, Balck A, Trinh J, Lohmann K, Malik L, Baker B, Paquette K, Moller A, Sue C, Funayama M, Hattori N, Singleton A, Klein C, Brice A, Billingsley KJ, Blauwendraat C.   +19 more
europepmc   +1 more source

Urine couleur thé chez un homme de 34 ans. [PDF]

CMAJ
Barsanti-Innes B, Koda Y, Hsia CC, Chin-Yee B.   +3 more
europepmc   +1 more source

Recommandations de pratiques exemplaires pour la prise en charge de l’amyotrophie bulbospinale liée à l’X. [PDF]

CMAJ
Schellenberg KL, Caspar-Bell G, Ellis C, Johnston W, King A, King M, Korngut L, Kushneriuk B, Lavoie AJ, McGonigle R, Newton J, O'Connell C, Shoesmith C, Suchowersky O, Warman-Chardon J, Wunder S, Pfeffer G.   +16 more
europepmc   +1 more source

Confirmation of RAB32 Ser71Arg Involvement in Parkinson's Disease. [PDF]

Mov Disord
Cogan G, Tesson C, Brefel-Courbon C, Lanore A, Kodjovi GC, Welment L, Clot F, Lesage S, Brice A.   +8 more
europepmc   +1 more source

A PARK7 Mutation-Induced Early-Onset Parkinson's Disease in a Moroccan Family: Expanding the Geographic Spectrum. [PDF]

Mov Disord Clin Pract
El Otmani H, Tesson C, Brice A, Lesage S.   +3 more
europepmc   +1 more source

Éléments fondamentaux de la documentation du consentement à la recherche clinique au Canada : orientation stratégique. [PDF]

CMAJ
Longstaff H, Lucas B, Schichter B, Murthy S, Flamenbaum J, pour le Groupe canadien de recherche en soins intensifs.   +5 more
europepmc   +1 more source