Results 131 to 140 of about 71,064 (224)

Improving the Identification of the Preclinical Stages of Spinocerebellar Ataxia Type 2. [PDF]

Tomography
Mora-Batista C, Vargas-De-León C, Reyes-Carreto R, Carrillo-Rodes FJ, Álvarez-Cuesta JA.   +4 more
europepmc   +1 more source

A 4-Generation Family Case Series of Spinocerebellar Ataxia Type 7

, 2014
Spinocerebellar Ataxia Type 7 (SCA7) is an autosomal dominant disorder associated with progressive vision loss. SCA7 exhibits marked genetic anticipation, caused by expansion of CAG trinucleotide repeat within the ATXN7 gene during parent-to-child ...
Erin M. Draper; Sarah D. Appel; Kelly A. Malloy
core  

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

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis. [PDF]

Mol Genet Genomic Med
Nakamura N, Nishio Y, Nyuzuki H, Fukushima A, Miura M, Kobayashi Y, Ishioka R, Tsukada K, Oka Y, Tsujikawa K, Morinaga H, Inaba M, Tohyama J, Nakazawa Y, Ikeuchi T, Ono T, Saitoh S, Ogi T.   +17 more
europepmc   +1 more source

Spinocerebellar ataxia

, 2012
Frank Gaillard, Rohit Sharma, Hamish Smith   +2 more
openaire   +2 more sources

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

Cureus
Aljalal N.
europepmc   +1 more source

Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort. [PDF]

Mov Disord
Chen A, Avadhani U, Ngo K, Corona RI, Neto GVC, Figueroa KP, Undiagnosed Diseases Network, Perlman S, Pulst SM, Nelson SF, Wong D, Fogel BL.   +11 more
europepmc   +1 more source

<i>Astragalus membranaceus</i> therapy in patients with spinocerebellar ataxia type 3. [PDF]

J Tradit Complement Med
Chiu C, Cheng W, Lin T, Chang H, Tseng M, Chang Y, Su S, Lee C, Chang H, Liu C.   +9 more
europepmc   +1 more source

Spinocerebellar Ataxia [PDF]

, 2020
openaire   +1 more source

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

Background Spinocerebellar ataxia syndromes presenting in adulthood have a broad range of causes, and despite extensive investigation remain undiagnosed in up to similar to 50% cases.
Hassani A, Alston CL, Blakely EL, Taylor RW, Chinnery PF, Boggild M, Pfeffer G, Horvath R, Samuels DC   +8 more
core