(Q44805368)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22522446%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin (English)

1 reference

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29 January 2020

1 reference

1

1 reference

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29 January 2020

Chaim Jalas

3

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29 January 2020

author name string

Yuval Cinnamon

2

1 reference

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29 January 2020

Avraham Shaag

4

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29 January 2020

Channa Maayan

5

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29 January 2020

Felicia B Axelrod

6

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29 January 2020

Orly Elpeleg

7

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29 January 2020

publication date

1 April 2012

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29 January 2020

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29 January 2020

volume

71

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29 January 2020

page(s)

569-572

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29 January 2020

issue

4

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Diagnosis and new treatments in genetic neuropathies.

29 January 2020

cites work

1 reference

Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs

21 January 2018

1 reference

Inherited autonomic neuropathies

21 January 2018

1 reference

Survival in familial dysautonomia: Impact of early intervention.

21 January 2018

1 reference

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

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

21 January 2018

1 reference

Runs of homozygosity in European populations

21 January 2018

1 reference

An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments.

21 January 2018

1 reference

Developmental expression of BPAG1-n: insights into the spastic ataxia and gross neurologic degeneration in dystonia musculorum mice

21 January 2018

1 reference

Integrators of the cytoskeleton that stabilize microtubules

21 January 2018

1 reference

Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue.

21 January 2018

1 reference

Purification and characterization of the human elongator complex

21 January 2018

1 reference

Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin

21 January 2018

1 reference

IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

21 January 2018

1 reference

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

21 January 2018

1 reference

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.23524

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22522446%20AND%20SRC:MED&resulttype=core&format=json

release_ksmeki6yavaz3ixr52asba2qr4

29 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ksmeki6yavaz3ixr52asba2qr4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference