(Q48341636)

10 February 2018

title

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. (English)

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10 February 2018

autosomal recessive cerebellar ataxia

main subject

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Michael A Fox

4

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Guy A. Rouleau

9

Guy A Rouleau

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10 February 2018

8

Jean-Pierre Bouchard

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Nicolas Dupré

2

Nicolas Dupré

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10 February 2018

7

Joshua R Sanes

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10 February 2018

Sandra B. Laurent

5

Sandra Laurent

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10 February 2018

Patrick A Dion

3

Patrick Dion

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10 February 2018

author name string

François Gros-Louis

1

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10 February 2018

Steve Verreault

6

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10 February 2018

language of work or name

English

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publication date

10 December 2006

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10 February 2018

published in

Nature Genetics

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10 February 2018

volume

39

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10 February 2018

issue

1

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10 February 2018

page(s)

80-85

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10 February 2018

https://scigraph.springernature.com/pub.10.1038/ng1927

exact match

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cites work

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

1 reference

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

21 January 2018

1 reference

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

21 January 2018

1 reference

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

21 January 2018

1 reference

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

21 January 2018

1 reference

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

21 January 2018

1 reference

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

21 January 2018

1 reference

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

21 January 2018

1 reference

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

21 January 2018

1 reference

Spectrin mutations cause spinocerebellar ataxia type 5.

21 January 2018

1 reference

Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction

21 January 2018

1 reference

Syne proteins anchor muscle nuclei at the neuromuscular junction

21 January 2018

1 reference

Induction, assembly, maturation and maintenance of a postsynaptic apparatus

21 January 2018

1 reference

Role of ANC-1 in tethering nuclei to the actin cytoskeleton.

21 January 2018

1 reference

The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300

21 January 2018

1 reference

Systematic functional analysis of the Caenorhabditis elegans genome using RNAi

21 January 2018

1 reference

A Drosophila dystrophin-related protein, MSP-300, is required for embryonic muscle morphogenesis.

21 January 2018

1 reference

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

21 January 2018

1 reference

An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor dom

21 January 2018

1 reference

Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1038/NG1927

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10 February 2018

Dimensions Publication ID

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10 February 2018