Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q34995414

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Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis Taking pain out of NGF: a "painless" NGF mutant, linked to hereditary sensory autonomic neuropathy type V, with full neurotrophic activity HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.Multi-system disorders of glycosphingolipid and ganglioside metabolism Genetic spectrum of hereditary neuropathies with onset in the first year of life Pathogenesis of spinal cord injury induced edema and neuropathic pain: expression of multiple isoforms of wnk1.Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.Mechanisms of disease in hereditary sensory and autonomic neuropathies.Biochemical characterization of mutants in chaperonin proteins CCT4 and CCT5 associated with hereditary sensory neuropathy.WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio)The WNKs: atypical protein kinases with pleiotropic actions.Neuronal degeneration in autonomic nervous system of Dystonia musculorum mice.Too many numbers and complexity: time to update the classifications of neurogenetic disorders?KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.Rab GTPases implicated in inherited and acquired disorders.Ceramide sphingolipid signaling mediates Tumor Necrosis Factor (TNF)-dependent toxicity via caspase signaling in dopaminergic neurons.Charcot-Marie-Tooth 2b associated Rab7 mutations cause axon growth and guidance defects during vertebrate sensory neuron development Topological and functional characterization of the ssSPTs, small activating subunits of serine palmitoyltransferase Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype Defective axonal transport of Rab7 GTPase results in dysregulated trophic signaling.Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort Hypertension: the missing WNKs.Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.Inherited neuropathies: clinical overview and update.EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis.Pain, analgesia and genetics.Genetic aspects of sodium channelopathy in small fiber neuropathy.Inherited neuropathies: an update.Progress in peripheral nerve disease research in the last two years.From genes to pain: nerve growth factor and hereditary sensory and autonomic neuropathy type V.Brief report. Adult patient presenting an interstitial (9) (q21.32q31.1) direct duplication resulting from the malsegregation of a paternal balanced insertional translocation.Human genetic disorders of sphingolipid biosynthesis.Integrated Computational Analysis of Genes Associated with Human Hereditary Insensitivity to Pain. A Drug Repurposing Perspective.Chemotherapy-Induced Neuropathy in Cancer Survivors.Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.Non-truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?

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P2860

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

http://www.wikidata.org/entity/Q34995414

description

2009 nî lūn-bûn

@nan

2009 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի օգոստոսին հրատարակված գիտական հոդված

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2009年の論文

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年學術文章

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name

Genes for hereditary sensory a ...... enotype-phenotype correlation.

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Genes for hereditary sensory a ...... enotype-phenotype correlation.

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Genes for hereditary sensory a ...... enotype-phenotype correlation.

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type

label

Genes for hereditary sensory a ...... enotype-phenotype correlation.

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Genes for hereditary sensory a ...... enotype-phenotype correlation.

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Genes for hereditary sensory a ...... enotype-phenotype correlation.

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prefLabel

Genes for hereditary sensory a ...... enotype-phenotype correlation.

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Genes for hereditary sensory a ...... enotype-phenotype correlation.

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Genes for hereditary sensory a ...... enotype-phenotype correlation.

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

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Albena Jordanova

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An Jacobs

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Andrés Nascimento

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Annelies Rotthier

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Els De Vriendt

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Joachim Weis

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Jonathan Baets

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Marielle Swinkels

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Michaela Auer-Grumbach

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Moyo C Kruyt

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P2860

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

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

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

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

Primer3 on the WWW for general users and for biologist programmers

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

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

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

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

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

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2699-2711

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scholarly article

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10.1093/BRAIN/AWP198

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P433

Pt 10

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132

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Nathalie Bonello-Palot

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2009-08-03T00:00:00Z

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26713993

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19651702

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2759337

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