Spinocerebellar ataxia type 12: clues to pathogenesis
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Clinical Neurology,Neurology
Reference40 articles.
1. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12;Holmes;Nat Genet,1999
2. Neuropathology and cellular pathogenesis of spinocerebellar ataxia type 12;O’Hearn;Mov Disord,2015
3. Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12;Dong;Parkinsonism Relat Disord,2015
4. Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease;Hellenbroich;J Neurol Neurosurg Psychiatry,2004
5. Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients;Musova;Cerebellum,2013
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1. Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances;Frontiers in Neuroscience;2024-06-04
2. Generation of a human induced pluripotent stem cell line JHUi004-A with heterozygous mutation for spinocerebellar ataxia type 12 using genome editing;Stem Cell Research;2024-06
3. Role of Bβ1 overexpression in the pathogenesis of SCA12;Movement Disorders;2024-05-26
4. Integration of graph network with kernel SVM and logistic regression for identification of biomarkers in SCA12 and its diagnosis;Cerebral Cortex;2024-04-01
5. Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12;Movement Disorders;2023-09-21
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