Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene (Q44568927)

4 December 2017

title

Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene (English)

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4 December 2017

Stojkovic T

1

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4 December 2017

de Seze J

2

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4 December 2017

Dubourg O

3

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4 December 2017

Arne-Bes MC

4

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4 December 2017

Tardieu S

5

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4 December 2017

Hache JC

6

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4 December 2017

Vermersch P

7

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4 December 2017

publication date

1 September 2003

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4 December 2017

published in

Clinical Neurophysiology

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4 December 2017

volume

114

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4 December 2017

issue

9

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4 December 2017

page(s)

1609-1614

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SPTLC1 is mutated in hereditary sensory neuropathy, type 1

4 December 2017

cites work

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Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

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Neuropathic pain in Charcot-Marie-Tooth disease

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Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

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7 January 2021

Phrenic nerve conduction study in demyelinating neuropathies and open-heart surgery

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7 January 2021

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

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7 January 2021

Pupillary disturbances in multiple sclerosis: correlation with MRI findings

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7 January 2021

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

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7 January 2021

Role of myelin Po protein as a homophilic adhesion molecule

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7 January 2021

Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2.

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7 January 2021

Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.

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

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7 January 2021

Axon damage in CMT due to mutation in myelin protein P0

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

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7 January 2021

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

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7 January 2021

The cause of increased pupillary light reflex latencies in diabetic patients: the relationship between pupillary light reflex and visual evoked potential latencies

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7 January 2021

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

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7 January 2021

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy

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7 January 2021

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

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7 January 2021

Hereditary motor and sensory neuropathy type 2C is genetically distinct from types 2B and 2D

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7 January 2021

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met

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7 January 2021

The glycoprotein P0 in peripheral gliogenesis

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7 January 2021

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

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7 January 2021

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

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7 January 2021

Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity

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7 January 2021

10.1016/S1388-2457(03)00159-7

Identifiers

DOI

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4 December 2017

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