Results 101 to 110 of about 341,259 (167)

Mitochondrial Complex IV Deficiency Nuclear Type 11 Caused by a Novel Start-Lost Variant in the <i>COX20</i> Gene. [PDF]

Genes (Basel)
Kuchina A, Borovikov A, Sidorova O, Orlova M, Ryzhkova O, Zaigrin I, Murtazina A.   +6 more
europepmc   +1 more source

An International Survey of Patients with Ataxia: Trends in Patient-Reported Symptoms. [PDF]

Cerebellum
Suart C, Alcott A, Shogren L, Trace K, Rosenthal LS, Moore L.   +5 more
europepmc   +1 more source

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers. [PDF]

Cerebellum
Pretegiani E, Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Kuzmiak M, Milovanovic A, Traschütz A, Tarnutzer AA.   +16 more
europepmc   +1 more source

Cerebellar and extra-cerebellar symptoms in movement disorders. [PDF]

Arq Neuropsiquiatr
Boone DL, Procaci VR, Ferraz HB, Barsottini OGP, Pedroso JL.   +4 more
europepmc   +1 more source

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization. [PDF]

Front Neurol
Wei S, Zhao Z, Li N, Guo X, Chen J, Hu J.   +5 more
europepmc   +1 more source

Repurposing of natural products for spinocerebellar ataxia type 3 using integrated network pharmacology and in silico approaches. [PDF]

Sci Rep
Roney M, Mohd Hisam NS, Uddin MN, Istiaque Hamim SM, Lim LW, Wong KH.   +5 more
europepmc   +1 more source

GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications. [PDF]

Mov Disord
Indelicato E, Fleszar Z, Pellerin D, Nachbauer W, Zuchner S, Traschütz A, Amprosi M, Schöls L, Haack TB, Brais B, Boesch S, Synofzik M.   +11 more
europepmc   +1 more source

Revisiting 'hot cross bun' sign: a multicentre MRI study of 97 patients with autopsy-confirmed multiple system atrophy. [PDF]

J Neurol Neurosurg Psychiatry
Sugiyama A, Riku Y, Koga S, Yokota H, Mukai H, Takao M, Hayashi K, Takeda T, Hirano S, Yoshida M, Iwasaki Y, Yasui K, Ando T, Ito Y, Tamura T, Sekiya H, Dickson DW, Middlebrooks EH, Takahashi Y, Sato N, Mizutani M, Sano T, Mihara B, Komori T, Kuwabara S.   +24 more
europepmc   +1 more source

Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia. [PDF]

Sci Rep
Karamazovova S, Laczó M, Matuskova V, Svecova N, Stovickova L, Blichova Z, Paulasova Schwabova J, Kuzmiak M, Laczó J, Vyhnalek M.   +9 more
europepmc   +1 more source