Results 141 to 150 of about 5,571 (197)

Novel genetic variants identification and immune profiling in ataxia telangiectasia patients. [PDF]

J Transl Med
Jenni R, Klaa H, Chikhaoui A, Zayoud K, Cochet E, Kraoua I, Burglen L, Yacoub-Youssef H.   +7 more
europepmc   +1 more source

The cerebellum in dystonia: key player or background support? [PDF]

Arq Neuropsiquiatr
Camargo CHF, Teive HAG.
europepmc   +1 more source

Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension. [PDF]

Neurol Ther
Buchholz M, Pfaff M, Iskandar A, Reetz K, Schulz JB, Grobe-Einsler M, Klockgether T, Michalowsky B, EFACTS Study Group.   +8 more
europepmc   +1 more source

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia. [PDF]

Eur J Hum Genet
Sperelakis-Beedham B, Gitiaux C, Rajaoba M, Magen M, Derive N, Chansard J, de Sainte Agathe JM, Maurin ML, Assouline Z, Barnerias C, Desguerre I, Steffann J, Barcia G.   +12 more
europepmc   +1 more source

Sural/Radial Amplitude Ratio: A Useful Tool to Diagnose Non-Length-Dependent Neuropathy. [PDF]

Muscle Nerve
Pegat A, Gavoille A, Cluse F, Moussy M, Petiot P, Camdessanché JP, Bouhour F.   +6 more
europepmc   +1 more source

Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis. [PDF]

iScience
Pazos-Gil M, Medina-Carbonero M, Sanz-Alcázar A, Portillo-Carrasquer M, Oliveira-Jorge L, Hernández G, Sánchez M, Delaspre F, Cabiscol E, Ros J, Tamarit J.   +10 more
europepmc   +1 more source

A Novel Exon Duplication in the <i>SACS</i> Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases. [PDF]

Appl Clin Genet
Fichna JP, Elert-Dobkowska E, Radziwonik-Fraczyk W, Ziora-Jakutowicz K, Wężyk MM, Berdyński M, Zaremba J, Żekanowski C, Bednarska-Makaruk M.   +8 more
europepmc   +1 more source

Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort. [PDF]

J Neurol
Iruzubieta P, Pellerin D, Ashton C, Villa F, Renaud M, Dicaire MJ, Danzi MC, Aldecoa M, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Brisson JD, Boycott KM, Houlden H, Synofzik M, La Piana R, Zuchner S, Duquette A, Brais B.   +21 more
europepmc   +1 more source

A Mild Ataxia-Dominant Phenotype of Phosphomannomutase 2-Congenital Disorder of Glycosylation in a Tunisian Family: Broadening the Geographical Scope. [PDF]

J Mov Disord
Zouari R, Hlioui L, Saied MZ, Ben Mohamed D, Ben Sassi S, Amouri R.   +5 more
europepmc   +1 more source

Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia. [PDF]

Mov Disord
Di Folco C, Dubec-Fleury C, Traschütz A, Kessler C, Reich S, Gagnon C, Lessard I, Rodrigue X, Cocozza S, Satolli S, Santorelli FM, Durr A, Heinzmann A, van de Warrenburg BP, Willemse IHJ, Başak AN, Vural A, Brais B, Klebe S, Horvath R, PROSPAX Consortium, Schüle R, Synofzik M, Tezenas du Montcel S.   +23 more
europepmc   +1 more source