(Q24323217)

English

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

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scholarly article

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

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hereditary sensory and autonomic neuropathy

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WNK lysine deficient protein kinase 1

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GOA release 2020-03-11

neuron development

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GOA release 2020-03-11

autonomic neuropathy

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based on heuristic

inferred from title

25

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Ryan R Brinkman

object named as

Ryan R Brinkman

8

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Michael R. Hayden

object named as

Michael R Hayden

23

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6

object named as

Bernard Brais

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Xandra O. Breakefield

17

object named as

Xandra O Breakefield

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William Pryse-Phillips

20

object named as

William Pryse-Phillips

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author name string

Ronald G Lafreniere

1

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Marcia L E MacDonald

2

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Marie-Pierre Dube

3

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Julie MacFarlane

4

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Mary O'Driscoll

5

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Sebastien Meilleur

7

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Owen Dadivas

9

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Terry Pape

10

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Christele Platon

11

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Chris Radomski

12

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Jenni Risler

13

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Jay Thompson

14

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Ana-Maria Guerra-Escobio

15

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Gudarz Davar

16

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Simon N Pimstone

18

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Roger Green

19

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Y Paul Goldberg

21

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H Banfield Younghusband

22

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Robin Sherrington

24

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Mark E Samuels

26

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language of work or name

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publication date

May 2004

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American Journal of Human Genetics

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74

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1064-73

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5

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Familial dysautonomia is caused by mutations of the IKAP gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

19 March 2017

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

19 March 2017

Human hypertension caused by mutations in WNK kinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

19 March 2017

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

19 March 2017

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

19 March 2017

A high-resolution recombination map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

7 April 2017

Faster sequential genetic linkage computations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

27 September 2017

The Newfoundland population: a unique resource for genetic investigation of complex diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

27 September 2017

Recent developments in the HIV neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

27 September 2017

Diabetic neuropathy and nerve regeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

27 September 2017

WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epithelia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

27 September 2017

Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

27 September 2017

Reduced intraepidermal nerve fiber density in HIV-associated sensory neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

27 September 2017

A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

27 September 2017

Exclusion of p75NGFR and other candidate genes in a family with hereditary sensory neuropathy type II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

30 May 2018

Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

30 May 2018

Sural nerve morphometry in diabetic autonomic and painful sensory neuropathy. A clinicopathological study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

30 May 2018

Nonprogressive type II hereditary sensory autonomic neuropathy: a homogeneous clinicopathologic entity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

30 May 2018

No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

29 November 2018

Faster multipoint linkage analysis using Fourier transforms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

29 November 2018

Avoiding recomputation in linkage analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181970

29 November 2018

A familial peripheral neuropathy of unknown etiology resembling Morvan's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15060842

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Hereditary sensory and autonomic neuropathy type 2: two cases report]

1 reference

https://pubmed.ncbi.nlm.nih.gov/15060842

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Diabetic neuropathy. Current concepts on etiopathogenesis, diagnosis, and treatment]

1 reference

https://pubmed.ncbi.nlm.nih.gov/15060842

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterogeneity of hereditary sensory neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15060842

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital insensitivity to pain (hereditary sensory and autonomic neuropathy) HSAN: a report of two cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/15060842

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four siblings with type II hereditary sensory and autonomic neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15060842

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital sensory neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15060842

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_h4i6cyomnze73fvqajlrfubjpa

1 reference

https://api.fatcat.wiki/v0/release/h4i6cyomnze73fvqajlrfubjpa

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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