(Q45083983)

9 December 2017

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family (English)

1 reference

9 December 2017

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8

Guy A Rouleau

1 reference

9 December 2017

3

Masoud Shekarabi

1 reference

9 December 2017

2

Dominique J Verlaan

1 reference

9 December 2017

Jean-Baptiste Rivière

1

1 reference

9 December 2017

Ronald G Lafrenière

4

1 reference

9 December 2017

Mélanie Bénard

5

1 reference

9 December 2017

Vazken M Der Kaloustian

6

1 reference

9 December 2017

Zuhayr Shbaklo

7

1 reference

9 December 2017

1 October 2004

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9 December 2017

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9 December 2017

56

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9 December 2017

572-575

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9 December 2017

4

1 reference

Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs

9 December 2017

1 reference

Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations

21 January 2018

1 reference

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

21 January 2018

1 reference

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

21 January 2018

1 reference

The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3.

21 January 2018

1 reference

Familial dysautonomia is caused by mutations of the IKAP gene

21 January 2018

1 reference

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

21 January 2018

1 reference

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor

21 January 2018

1 reference

A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception

21 January 2018

1 reference

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates

21 January 2018

1 reference

A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.20237

1 reference

9 December 2017

1 reference