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

Nozomu Sato, Takeshi Amino, Kazuhiro Kobayashi, +18

The American Journal of Human Genetics

Neurodegenerative DiseasesMolecular NeuroscienceNeurological DisorderNeuroanatomyGenetics +8

Genome-wide detection of tandem DNA repeats that are expanded in autism

Brett Trost, Worrawat Engchuan, Charlotte Nguyen, +35

Nature

Tandem DnaDna SequencingSyndromic AutismGeneticsMolecular Biology +4

Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31

Taro Ishiguro, Nozomu Sato, Morio Ueyama, +16

Neuron

Rna Chaperone Tdp-43Regulatory RoleNatural SciencesRna BiologyMolecular Biology +4

A Novel Mutation in<i>ELOVL4</i>Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia

Kokoro Ozaki, Hiroshi Doi, Jun Mitsui, +20

JAMA Neurology

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion

Masato Obayashi, Giovanni Stévanin, Matthis Synofzik, +18

Journal of Neurology Neurosurgery & Psychiatry

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

Taro Ishiguro, Kinya Ishikawa, Makoto Takahashi, +15

Acta Neuropathologica

Abnormal <scp>RNA</scp> structures (<scp>RNA</scp> foci) containing a penta‐nucleotide repeat (<scp>UGGAA</scp>)_n in the <scp>P</scp>urkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis

Yusuke Niimi, Makoto Takahashi, Emiko Sugawara, +8

Neuropathology

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

Kinya Ishikawa, Alexandra Dürr, Thomas Klopstock, +13

Neurology

Neurological DisorderGeneticsGenetic EpidemiologyMolecular GeneticsDisease Gene Identification +21

Benefits of eculizumab in AQP4+ neuromyelitis optica spectrum disorder: Subgroup analyses of the randomized controlled phase 3 PREVENT trial

Jacqueline Palace, Dean M. Wingerchuk, Kazuo Fujihara, +676

Multiple Sclerosis and Related Disorders

Reduced brain‐derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF‐immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum

Makoto Takahashi, Kinya Ishikawa, Nozomu Sato, +12

Neuropathology