Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). (Q34477997)

2 August 2017

title

Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). (English)

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hereditary sensory and autonomic neuropathy type 1

2 August 2017

main subject

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13

Mary M Reilly

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Henry Houlden

1

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Rosalind King

2

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Julian Blake

3

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Mike Groves

4

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Seth Love

5

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Cathy Woodward

6

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Simon Hammans

7

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James Nicoll

8

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Graham Lennox

9

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Dominic G O'Donovan

10

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Carolyn Gabriel

11

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P K Thomas

12

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language of work or name

English

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publication date

19 December 2005

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2 August 2017

number of pages

15

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based on heuristic

inferred from page(s)

published in

Brain

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volume

129

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issue

Pt 2

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page(s)

411-425

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Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

2 August 2017

cites work

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

SENSORY RADICULAR NEUROPATHY ASSOCIATED WITH MUSCLE WASTING IN TWO CASES

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

Dating the origin of the V170M mutation causing non-type I cystinuria in Libyan Jews by linkage disequilibrium and physical mapping of the SLC7A9 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

Hereditary sensory radicular neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

Coexistent hereditary and inflammatory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

A novel RAB7 mutation associated with ulcero-mutilating neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

The phenotypic manifestations of chromosome 17p11.2 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

Hereditary sensory neuropathy. Association with increased synthesis of immunoglobulin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWH712

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWH712

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2 August 2017

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