Results 141 to 150 of about 10,200 (202)

Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia. [PDF]

Front Neurol
Guo L, Wu F, Wang Y, Xiong X, Zhong M.
europepmc   +1 more source

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia. [PDF]

Brain Sci
Sartorelli J, Pomponi MG, Garone G, Vasco G, Cumbo F, Colona VL, D'Amico A, Bertini E, Nicita F.   +8 more
europepmc   +1 more source

Aberrant Short Tandem Repeats: Pathogenicity, Mechanisms, Detection, and Roles in Neuropsychiatric Disorders. [PDF]

Genes (Basel)
Liu Y, Xia K.
europepmc   +1 more source

Get ready for short tandem repeats analysis using long reads-the challenges and the state of the art. [PDF]

Front Genet
Chaushevska M, Alapont-Celaya K, Schack AK, Krych L, Garrido Navas MC, Krithara A, Madjarov G.   +6 more
europepmc   +1 more source

Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1. [PDF]

Dev Med Child Neurol
Trucco F, Albamonte E, Pane M, Ricci F, D'amico A, Astrea G, Moroni I, Pini A, Fiorillo C, Berardinelli A, Johnson NE, Sansone VA, DM1 Paediatric Working Group.   +12 more
europepmc   +1 more source

Quantification of disease-associated RNA tandem repeats by nanopore sensing

Patiño-Guillén G, Pešović J, Panić M, Earle M, Ninković A, Petruşca S, Savić-Pavićević D, Keyser U, Bošković F.   +8 more
europepmc   +1 more source

When repetita no-longer iuvant: somatic instability of the CAG triplet in Huntington's disease. [PDF]

Nucleic Acids Res
Cattaneo E, Scalzo D, Zobel M, Iennaco R, Maffezzini C, Besusso D, Maestri S.   +6 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

Genome-Wide Microsatellite Characterization and Molecular Marker Development of Himalayan Griffon (<i>Gyps himalayensis</i>). [PDF]

Animals (Basel)
Guo W, Ke D, Wang C, Fan H.
europepmc   +1 more source

The Influence of Trinucleotide Repeats in the Androgen Receptor Gene on Androgen-related Traits and Diseases.

J Clin Endocrinol Metab
Sasako T, Ilboudo Y, Liang KYH, Chen Y, Yoshiji S, Richards JB.   +5 more
europepmc   +1 more source