(Q33845744)

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Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication

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scholarly article

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Europe PubMed Central

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29 July 2017

Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

electrophysiology

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inferred from title

Charcot-Marie-Tooth disease type 1A

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inferred from title

Jean-Pierre Bouchard

2

object named as

Bouchard JP

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5

object named as

Vanasse M

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Europe PubMed Central

PubMed publication ID

29 July 2017

author name string

Dupré N

1

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29 July 2017

Cossette L

3

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Brunet D

4

1 reference

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29 July 2017

Lemieux B

6

1 reference

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29 July 2017

Mathon G

7

1 reference

Europe PubMed Central

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29 July 2017

Puymirat J

8

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29 July 2017

language of work or name

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publication date

1 August 1999

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29 July 2017

Canadian Journal of Neurological Sciences

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29 July 2017

26

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29 July 2017

3

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29 July 2017

196-200

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29 July 2017

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

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Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

The phenotypic manifestations of chromosome 17p11.2 duplication.

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy)

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype

1 reference

https://api.crossref.org/works/10.1017%2FS031716710000024X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1017/S031716710000024X

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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