Results 121 to 130 of about 9,196 (170)

Role of the chaperonin TCP-1 ring complex in protein aggregation and neurodegeneration. [PDF]

Front Mol Neurosci
Varte V, Rincon-Limas DE.
europepmc   +1 more source

Role of Repeat Tract Structure and the rs7158733 SNP in Spinocerebellar Ataxia 3. [PDF]

Int J Mol Sci
Nethisinghe S, Garcia-Moreno H, Alwan J, Labrum R, Giunti P.   +4 more
europepmc   +1 more source

Expanding the Genetic Landscape of <i>ATXN2</i> Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family. [PDF]

Neurol Genet
Saucier J, Al-Qadi M, Allain EP, Robichaud PP, Chamard-Witkowski L, Alvarez M, Dion-Côté AM, Richard L, Crapoulet N, Ben Amor M.   +9 more
europepmc   +1 more source

Identification and Functional Characterization of a Novel De Novo <i>SATB1</i> Frameshift Variant in a Patient with Epilepsy-Dominant Neurodevelopmental Disorders. [PDF]

Genes (Basel)
Xu M, Zhang R, Fan S, Sun M, Zhang X.
europepmc   +1 more source

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort. [PDF]

Int J Mol Sci
Khojakulov Z, Palvadeau RJ, Kovancılar-Koç M, Atay I, Şahbaz I, Tekgül Ş, Şahin A, Badakal EZD, Gül-Demirkale T, Çiftçi V, Bayraktar E, Tunca C, Smolina N, Akçimen F, Başak AN.   +14 more
europepmc   +1 more source

Reliability and construct validity of the Italian version of AMAT scale in SBMA subjects. [PDF]

Neurol Sci
Pupillo E, Bianchi E, Leone MA, Paganoni S, Romito A, Paredi F, Minicuci GM, Sorarù G.   +7 more
europepmc   +1 more source

Cathepsin Z/X: Breaking Down the Known and Unknown. [PDF]

Int J Mol Sci
Zdravkova K, Pavicević M, Mijanović O, Branković A, Ilicheva PM, Stankovski A, Karanović J, Pualić D, Rubel AA, Rodionov IV, Savvateeva LV, Parodi A, Zamyatnin AA.   +12 more
europepmc   +1 more source

Biologic Significance of the Short Tandem Trinucleotide Repeats in the Androgen Receptor Gene.

J Clin Endocrinol Metab
Bhasin S.
europepmc   +1 more source

Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders. [PDF]

Handb Exp Pharmacol
Pieper AA, Paul BD.
europepmc   +1 more source

CRISPR-Cas9: bridging the gap between aging mechanisms and therapeutic advances in neurodegenerative disorders. [PDF]

Front Cell Neurosci
Shamsi A, Alrouji M, AlOmeir O, Tasqeruddin S, Dinislam K, Zuberi A.   +5 more
europepmc   +1 more source