(Q34433595)

2 August 2017

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations (English)

1 reference

2 August 2017

13

Eric D Green

1 reference

2 August 2017

6

Anthony Antonellis

1 reference

2 August 2017

Kumaraswamy Sivakumar

1

object named as

Kumaraswamy Sivakumar

1 reference

2 August 2017

3

Imke Puls

1 reference

2 August 2017

Theodoros Kyriakides

2

1 reference

2 August 2017

Garth A Nicholson

4

1 reference

2 August 2017

Benoît Funalot

5

1 reference

2 August 2017

Nyamkhishig Sambuughin

7

1 reference

2 August 2017

Kyproula Christodoulou

8

1 reference

2 August 2017

John L Beggs

9

1 reference

2 August 2017

Eleni Zamba-Papanicolaou

10

1 reference

2 August 2017

Victor Ionasescu

11

1 reference

2 August 2017

Marinos C Dalakas

12

1 reference

2 August 2017

Kenneth H Fischbeck

14

1 reference

2 August 2017

Lev G Goldfarb

15

1 reference

2 August 2017

language of work or name

English

0 references

publication date

13 July 2005

1 reference

2 August 2017

1 reference

2 August 2017

128

1 reference

2 August 2017

Pt 10

1 reference

2 August 2017

2304-2314

1 reference

Spinal muscular atrophies reveal motor neuron vulnerability to defects in ribonucleoprotein handling

2 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

21 January 2018

Hereditary neuropathies

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Molecular genetics of distal hereditary motor neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Dissociated small hand muscle involvement in amyotrophic lateral sclerosis detected by motor unit number estimates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Hereditary motor peripheral neuropathy predominantly affecting the arms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Crystal structure of the cytoskeleton-associated protein glycine-rich (CAP-Gly) domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Congenital sensory neuropathy with selective loss of small myelinated fibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

A missense mutation in Tbce causes progressive motor neuronopathy in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Distal chronic spinal muscular atrophy involving the hands

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Mutant dynactin in motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH590

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWH590

1 reference

2 August 2017

1 reference