Results 91 to 100 of about 25,975 (129)

Exome Sequencing uncovers Homozygous Stop-Gained variant in the <i>SYNE1</i> Gene Leading to Spinocerebellar Ataxia. [PDF]

Pak J Med Sci
Haque A, Alam MZ, Bibi F, Muthaffar OY, Rasool M, Imran Naseer M.   +5 more
europepmc   +1 more source

Progressive Slurred Speech as an Atypical Presentation of GDAP2-Related Spinocerebellar Ataxia: A Case Report. [PDF]

Cureus
Aljalal N.
europepmc   +1 more source

Convergent validity, responsiveness, and meaningful within-subject change of the PROM-Ataxia in spinocerebellar ataxias. [PDF]

J Neurol
Leeuwenberg KE, van Prooije TH, Reniers C, Kapteijns KCJ, Maas RPPWM, van de Warrenburg BP.   +5 more
europepmc   +1 more source

iPatax: a Tablet-based Tool for Quantitative Assessment of Cerebellar Ataxia. [PDF]

Cerebellum
Nagai T, Koide S, Ishihara T, Tada M, Nishizawa M, Onodera O.   +5 more
europepmc   +1 more source

<i>ATXN2</i> Spectrum Disorders: Genetic Complexity Beyond Dominant Inheritance. [PDF]

Neurol Genet
Laffita-Mesa JM, Paucar M, Svenningsson P.   +2 more
europepmc   +1 more source

4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6. [PDF]

Sci Rep, 2016
Jayabal S, Chang HH, Cullen KE, Watt AJ.
europepmc   +1 more source

Blood Glucose Homeostasis is Preserved in Patients with Mild-to-moderate Spinocerebellar Ataxia Type 2. [PDF]

Cerebellum
Aguilera-Rodríguez R, Almaguer-Gotay D, Álvarez-Sosa A, Anidos-Machado M, Silva-Ricardo Y, Cuello-Almarales D, Estupiñán-Rodríguez A, Almaguer-Mederos LE.   +7 more
europepmc   +1 more source

Diagnostic Pitfalls in Hereditary Neurological Disorders: Machado-Joseph Disease Presenting as Charcot-Marie-Tooth Disease: A Case Report. [PDF]

Clin Case Rep
Lim ECN, Lim CED.
europepmc   +1 more source

Spinocerebellar Ataxia Type 23 (SCA23): A Rare Cause of SCA in the Americas. [PDF]

Cerebellum
Saadeh VMD, Nassif D, Vasconcellos LF.
europepmc   +1 more source

Downbeat nystagmus: a practical approach based on a clinical case. [PDF]

Arq Neuropsiquiatr
Martins RR, Pereira CB.
europepmc   +1 more source