Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)nin the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gain of RNA function in pathological cases: Focus on myotonic dystrophy

(2011) A.F. Klein et al.   BIOCHIMIE

Cellular toxicity of expanded RNA repeats: focus on RNA foci

(2011) Marzena Wojciechowska et al.   HUMAN MOLECULAR GENETICS

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians

(2011) K. Ishikawa et al.   NEUROLOGY

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The carboxy-terminal fragment of α1A calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells

(2009) Taro Ishiguro et al.   ACTA NEUROPATHOLOGICA

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

(2009) Nozomu Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan

(2009) Ryuki Hirano et al.   JOURNAL OF HUMAN GENETICS

Polyglutamine-Expanded Androgen Receptor Truncation Fragments Activate a Bax-Dependent Apoptotic Cascade Mediated by DP5/Hrk

(2009) J. E. Young et al.   JOURNAL OF NEUROSCIENCE

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

(2009) Randy S. Daughters et al.   PLoS Genetics

Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan

(2008) Kunihiro Yoshida et al.   CEREBELLUM

Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia: An autopsy case report with some new observations on cerebellar pathology

(2008) Masayuki Shintaku et al.   NEUROPATHOLOGY