(Q48702662)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Charcot-Marie-Tooth disease and sleep apnoea syndrome: a family study (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

6

1 reference

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4 November 2019

Jean Louis Pépin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

5

A Labarre-Vila

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

M Dematteis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M Jeanmart

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

C Deschaux

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

language of work or name

English

0 references

publication date

1 January 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

357

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

9252

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

267-272

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

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

4 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

The phenotypic manifestations of chromosome 17p11.2 duplication.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

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/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Diaphragm weakness in Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Phrenic involvement in Charcot-Marie-Tooth disease. A pathologic documentation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Diaphragmatic weakness in hereditary motor and sensory neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Evaluation of phrenic nerve and pulmonary function in hereditary motor and sensory neuropathy, type I

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Laryngeal electromyographic findings in Charcot-Marie-Tooth disease type II

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

The occurrence of sleep-disordered breathing among middle-aged adults

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Differentiating obstructive and central sleep respiratory events through pulse transit time.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Peripheral neuropathy in sleep apnea. A tissue marker of the severity of nocturnal desaturation.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Temperature thresholds in the oropharynx of patients with obstructive sleep apnea syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Upper airway muscle activity in normal women: influence of hormonal status.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Progesterone synthesis and myelin formation by Schwann cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

Evolution of nerve conduction abnormalities in children with dominant hypertrophic neuropathy of the Charcot-Marie-Tooth type

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2800%2903614-X

7 January 2021

10.1016/S0140-6736(00)03614-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11214130%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference