Unknown

Dataset Information

0

A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the PRNP Gene.

ABSTRACT:

SUBMITTER: Kukkle PL 

PROVIDER: S-EPMC7396861 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the <i>PRNP</i> Gene.

Kukkle Prashanth L PL   Geetha Thenral S TS   Mahadevan Anita A   Ramprasad Vedam L VL  

Movement disorders clinical practice 20200727 6

Similar Datasets

Unknown A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex.
| S-EPMC11422396 | biostudies-literature
Unknown A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].
| S-EPMC378625 | biostudies-literature
Unknown A Neonatal Case of Autosomal Dominant Hypoparathyroidism without Mutation of the CASR Gene.
| S-EPMC4004876 | biostudies-literature
Unknown Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48).
| S-EPMC8466936 | biostudies-literature
Unknown Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia.
| S-EPMC6617910 | biostudies-literature
Unknown A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
| S-EPMC4667105 | biostudies-literature
Unknown Autosomal recessive spinocerebellar ataxia type 4 with a <i>VPS13D</i> mutation: A case report.
| S-EPMC8771376 | biostudies-literature
Unknown Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia.
| S-EPMC4906418 | biostudies-literature
Unknown Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
| S-EPMC3465691 | biostudies-literature
Unknown Nilotinib treatment outcomes in autosomal dominant spinocerebellar ataxia over one year.
| S-EPMC11251258 | biostudies-literature