(Q34449792)

2 August 2017

title

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. (English)

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2 August 2017

Sini Penttilä

1

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2 August 2017

Manu Jokela

2

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2 August 2017

Heidi Bouquin

3

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2 August 2017

Anna Maija Saukkonen

4

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2 August 2017

Jari Toivanen

5

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2 August 2017

Bjarne Udd

6

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2 August 2017

publication date

12 December 2014

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2 August 2017

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2 August 2017

volume

77

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2 August 2017

issue

1

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2 August 2017

page(s)

163-172

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Late-onset lower motor neuronopathy: a new autosomal dominant disorder

2 August 2017

cites work

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Late-onset spinal motor neuronopathy - a common form of dominant SMA.

21 January 2018

1 reference

Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

21 January 2018

1 reference

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

21 January 2018

1 reference

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

21 January 2018

1 reference

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

21 January 2018

1 reference

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

21 January 2018

1 reference

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

21 January 2018

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The distal hereditary motor neuropathies.

21 January 2018

1 reference

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

21 January 2018

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The coiled coil-helix-coiled coil-helix proteins may be redox proteins

21 January 2018

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ChChd3, an Inner Mitochondrial Membrane Protein, Is Essential for Maintaining Crista Integrity and Mitochondrial Function

21 January 2018

1 reference

CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology

21 January 2018

1 reference

Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association

21 January 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

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SNP detection for massively parallel whole-genome resequencing

21 January 2018

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The Sequence Alignment/Map format and SAMtools

21 January 2018

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BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

21 January 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

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Integrative genomics viewer

21 January 2018

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Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

21 January 2018

1 reference

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

21 January 2018

1 reference

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

21 January 2018

1 reference

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features

21 January 2018

1 reference

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy

21 January 2018

1 reference

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

21 January 2018

1 reference

Spatial clustering of amyotrophic lateral sclerosis in Finland at place of birth and place of death

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.24319

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2 August 2017

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