(Q34028128)

30 July 2017

title

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

1 reference

30 July 2017

author

Michaela Auer-Grumbach

15

object named as

Michaela Auer-Grumbach

0 references

Ronen Spiegel

8

object named as

Ronen Spiegel

0 references

Haluk Topaloglu

25

object named as

Haluk Topaloglu

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30 July 2017

23

Dagmara Kabzińska

1 reference

30 July 2017

Jonathan Baets

1

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30 July 2017

Tine Deconinck

2

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30 July 2017

Els De Vriendt

3

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30 July 2017

Magdalena Zimoń

4

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30 July 2017

Laetitia Yperzeele

5

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30 July 2017

Kim Van Hoorenbeeck

6

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30 July 2017

Kristien Peeters

7

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30 July 2017

Yesim Parman

9

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30 July 2017

Berten Ceulemans

10

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30 July 2017

Patrick Van Bogaert

11

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30 July 2017

Adolf Pou-Serradell

12

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30 July 2017

Günther Bernert

13

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30 July 2017

Argirios Dinopoulos

14

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30 July 2017

Satu-Leena Sallinen

16

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30 July 2017

Gian Maria Fabrizi

17

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30 July 2017

Fernand Pauly

18

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30 July 2017

Peter Van den Bergh

19

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30 July 2017

Birdal Bilir

20

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30 July 2017

Esra Battaloglu

21

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30 July 2017

Ricardo E Madrid

22

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30 July 2017

Andrzej Kochanski

24

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30 July 2017

Geoffrey Miller

26

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30 July 2017

Albena Jordanova

27

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30 July 2017

Vincent Timmerman

28

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30 July 2017

Peter De Jonghe

29

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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

1 reference

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

MFN2 mutations cause severe phenotypes in most patients with CMT2A.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

A framework for variation discovery and genotyping using next-generation DNA sequencing data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

Nerve biopsy: requirements for diagnosis and clinical value

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

Paediatric electromyography in the modern world: a personal view

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

A method and server for predicting damaging missense mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

Massively parallel sequencing of ataxia genes after array-based enrichment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

Finding the causes of inherited neuropathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

Hereditary peripheral neuropathies of childhood

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

Chronic inflammatory demyelinating polyneuropathy in childhood

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

Primer3 on the WWW for general users and for biologist programmers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170533

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

5 July 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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