(Q28247299)

1

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Pierre-Marie Gonnaud

2

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Elisabeth Ollagnon

3

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Victor Chan

4

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Serge Perelman

5

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Tanya Stojkovic

6

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Claude Stoll

7

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Christophe Vial

8

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François Ziegler

9

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Antoon Vandenberghe

10

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Irène Maire

Journal of the Peripheral Nervous System

11

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language of work or name

English

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publication date

June 2006

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published in

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volume

11

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issue

2

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page(s)

148-55

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cites work

Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

Mycobacterium bovis Bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1085-9489.2006.00080.X

Identification of multiple proteins expressed in murine embryos as binding partners for the WW domains of the ubiquitin-protein ligase Nedd4

21 April 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1085-9489.2006.00080.X

The regulation of pubertal growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1085-9489.2006.00080.X

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1085-9489.2006.00080.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1085-9489.2006.00080.X

10.1111/J.1085-9489.2006.00080.X

21 January 2018

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1396706

1396706

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference