(Q36507162)

14 August 2017

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title

Molecular genetics of hereditary sensory neuropathies (English)

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14 August 2017

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Michaela Auer-Grumbach

1

object named as

Michaela Auer-Grumbach

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author name string

Barbara Mauko

2

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14 August 2017

Piet Auer-Grumbach

3

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14 August 2017

Thomas R Pieber

4

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14 August 2017

1 January 2006

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14 August 2017

NeuroMolecular Medicine

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14 August 2017

8

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14 August 2017

147-158

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14 August 2017

1-2

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https://scigraph.springernature.com/pub.10.1385/nmm:8:1-2:147

14 August 2017

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cites work

Neurotrophic factors and their receptors in human sensory neuropathies

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Familial dysautonomia is caused by mutations of the IKAP gene

21 January 2018

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EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia

21 January 2018

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Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia

21 January 2018

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

21 January 2018

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21 January 2018

Familial dysautonomia

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Inherited autonomic neuropathies

21 January 2018

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Survival in familial dysautonomia: Impact of early intervention.

21 January 2018

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Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.

21 January 2018

1 reference

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SPTLC1 is mutated in hereditary sensory neuropathy, type 1

21 January 2018

1 reference

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Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

21 January 2018

1 reference

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An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis

21 January 2018

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Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

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

21 January 2018

1 reference

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Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family

21 January 2018

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https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

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

21 January 2018

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Interaction of a Golgi-associated kinesin-like protein with Rab6

21 January 2018

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

21 January 2018

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Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics

21 January 2018

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Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase

21 January 2018

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Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies

21 January 2018

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Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism

21 January 2018

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Purification and characterization of the human elongator complex

21 January 2018

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A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.

21 January 2018

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A novel RAB7 mutation associated with ulcero-mutilating neuropathy

21 January 2018

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Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

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

21 January 2018

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

21 January 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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

Identification of the first non-Jewish mutation in familial Dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

Rab5 regulates motility of early endosomes on microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

Congenital insensitivity to pain with anhidrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

Rapid physical mapping of the human trk protooncogene (NTRK1) to human chromosome 1q21-q22 by P1 clone selection, fluorescence in situ hybridization (FISH), and computer-assisted microscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

Elongator, a Multisubunit Component of a Novel RNA Polymerase II Holoenzyme for Transcriptional Elongation

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A147

Genomic organization of the human NTRK1 gene.

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

[Pseudo-syringomyelic acropathy of the lower extremities, attempted nosographic interpretation]

1 reference

12 December 2020

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews

1 reference

12 December 2020

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

1 reference

12 December 2020

Activity of partially inhibited serine palmitoyltransferase is sufficient for normal sphingolipid metabolism and viability of HSN1 patient cells

1 reference

12 December 2020

Hereditary sensory neuropathies

1 reference

12 December 2020

Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians

1 reference

12 December 2020

Congenital insensitivity to pain with anhidrosis in a 2-month-old boy

1 reference

12 December 2020

Central autonomic dysfunction with defective lacrimation; report of five cases.

1 reference

12 December 2020

The nerve growth factor: thirty-five years later

1 reference

12 December 2020

Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital familial sensory neuropathy with anhidrosis

1 reference

12 December 2020

Identifiers

DOI

10.1385/NMM:8:1-2:147

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Dimensions Publication ID

14 August 2017

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1 reference