Genetic spectrum of hereditary neuropathies with onset in the first year of life (Q34028128)

30 July 2017

title

Genetic spectrum of hereditary neuropathies with onset in the first year of life (English)

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30 July 2017

author

Michaela Auer-Grumbach

object named as

Michaela Auer-Grumbach

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Ronen Spiegel

object named as

Ronen Spiegel

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Haluk Topaloglu

object named as

Haluk Topaloglu

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30 July 2017

Dagmara Kabzińska

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30 July 2017

Jonathan Baets

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30 July 2017

Tine Deconinck

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30 July 2017

Els De Vriendt

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30 July 2017

Magdalena Zimoń

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30 July 2017

Laetitia Yperzeele

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30 July 2017

Kim Van Hoorenbeeck

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30 July 2017

Kristien Peeters

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30 July 2017

Yesim Parman

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30 July 2017

Berten Ceulemans

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30 July 2017

Patrick Van Bogaert

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30 July 2017

Adolf Pou-Serradell

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30 July 2017

Günther Bernert

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30 July 2017

Argirios Dinopoulos

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30 July 2017

Satu-Leena Sallinen

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30 July 2017

Gian Maria Fabrizi

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30 July 2017

Fernand Pauly

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30 July 2017

Peter Van den Bergh

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30 July 2017

Birdal Bilir

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30 July 2017

Esra Battaloglu

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30 July 2017

Ricardo E Madrid

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30 July 2017

Andrzej Kochanski

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30 July 2017

Geoffrey Miller

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30 July 2017

Albena Jordanova

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30 July 2017

Vincent Timmerman

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30 July 2017

Peter De Jonghe

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30 July 2017

language of work or name

English

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publication date

11 August 2011

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30 July 2017

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30 July 2017

volume

134

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30 July 2017

issue

Pt 9

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30 July 2017

page(s)

2664-2676

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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

30 July 2017

cites work

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5 July 2018

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5 July 2018

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5 July 2018

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Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

5 July 2018

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5 July 2018

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5 July 2018

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

5 July 2018

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5 July 2018

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

5 July 2018

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Massively parallel sequencing of ataxia genes after array-based enrichment

5 July 2018

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A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy

5 July 2018

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

5 July 2018

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The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

5 July 2018

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Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

5 July 2018

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APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

5 July 2018

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Finding the causes of inherited neuropathies

5 July 2018

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Hereditary peripheral neuropathies of childhood

5 July 2018

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Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

5 July 2018

1 reference

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Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

5 July 2018

1 reference

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Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

5 July 2018

1 reference

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Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy

5 July 2018

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A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths

5 July 2018

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Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

5 July 2018

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Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients

5 July 2018

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Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy

5 July 2018

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Chronic inflammatory demyelinating polyneuropathy in childhood

5 July 2018

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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

5 July 2018

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5 July 2018

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Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

5 July 2018

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Congenital hypomyelinating neuropathy: two patients with long-term follow-up

5 July 2018

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Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

5 July 2018

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Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

5 July 2018

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Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.

21 January 2018

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A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR184

Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR184

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR184

Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR184

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR184

Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR184

Peripheral motor and sensory nerve conduction studies in normal infants and children

21 January 2018

1 reference

12 December 2020

Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals

1 reference

12 December 2020

Peripheral neuropathies of infancy

1 reference

12 December 2020

Novel mutation of the myelin P0 gene in a CMT1B family

1 reference

12 December 2020

Evolution of foot and ankle manifestations in children with CMT1A

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWR184

1 reference

30 July 2017

1 reference

30 July 2017

1 reference