Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. (Q34995414)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19651702%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation (English)

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4 February 2020

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6

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4 February 2020

Nathalie Bonello-Palot

7

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4 February 2020

Michaela Auer-Grumbach

5

object named as

Michaela Auer-Grumbach

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4 February 2020

Sara S Kilic

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ORCID Public Data File 2021

author name string

Annelies Rotthier

1

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Jonathan Baets

2

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4 February 2020

Els De Vriendt

3

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An Jacobs

4

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4 February 2020

Sara Sebnem Kilic

8

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4 February 2020

Joachim Weis

9

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4 February 2020

Andrés Nascimento

10

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Marielle Swinkels

11

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Moyo C Kruyt

12

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Albena Jordanova

13

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Peter De Jonghe

14

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Vincent Timmerman

15

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4 February 2020

language of work or name

English

0 references

publication date

3 August 2009

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4 February 2020

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4 February 2020

volume

132

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4 February 2020

issue

Pt 10

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4 February 2020

page(s)

2699-2711

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A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

4 February 2020

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1 reference

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Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

8 July 2018

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Hereditary sensory and autonomic neuropathies: types II, III, and IV

8 July 2018

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Recent advances in hereditary sensory and autonomic neuropathies

8 July 2018

1 reference

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Molecular genetics of hereditary sensory neuropathies

8 July 2018

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Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

8 July 2018

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Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.

8 July 2018

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

8 July 2018

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Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.

8 July 2018

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Disease mechanisms in hereditary sensory and autonomic neuropathies

8 July 2018

1 reference

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SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies

8 July 2018

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novoSNP, a novel computational tool for sequence variation discovery

8 July 2018

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Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study

8 July 2018

1 reference

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Hereditary sensory neuropathies

8 July 2018

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SNPbox: web-based high-throughput primer design from gene to genome

8 July 2018

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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

8 July 2018

1 reference

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SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

8 July 2018

1 reference

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

8 July 2018

1 reference

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

8 July 2018

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Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review

8 July 2018

1 reference

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Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

8 July 2018

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Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor

8 July 2018

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Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

8 July 2018

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

8 July 2018

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

8 July 2018

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SPTLC1 is mutated in hereditary sensory neuropathy, type 1

8 July 2018

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

8 July 2018

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Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies

8 July 2018

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8 July 2018

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8 July 2018

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Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.

8 July 2018

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Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

8 July 2018

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8 July 2018

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Targeted mutation of the gene encoding the low affinity NGF receptor p75 leads to deficits in the peripheral sensory nervous system

8 July 2018

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A novel RAB7 mutation associated with ulcero-mutilating neuropathy

8 July 2018

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Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.

21 January 2018

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A novel NGFB point mutation: a phenotype study of heterozygous patients.

21 January 2018

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The mammalian Rab family of small GTPases: definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the Ras superfamily

21 January 2018

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Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

21 January 2018

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Quantitative detection of siRNA and single-stranded oligonucleotides: relationship between uptake and biological activity of siRNA.

21 January 2018

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Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

21 January 2018

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[Congenital pain-insensitivity syndrome; a rare indication of the benefit of pain]

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19651702

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hereditary sensory neuropathies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19651702

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19651702

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWP198

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19651702%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19651702%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

PubMed publication ID

19651702

1 reference