(Q36507157)

14 August 2017

1 reference

title

Intermediate forms of Charcot-Marie-Tooth neuropathy: a review (English)

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14 August 2017

2

Simon Myers

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14 August 2017

Garth Nicholson

1

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14 August 2017

publication date

1 January 2006

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14 August 2017

published in

NeuroMolecular Medicine

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14 August 2017

volume

8

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14 August 2017

issue

1-2

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14 August 2017

page(s)

123-130

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Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

14 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

Slow axonal transport: the polymer transport model.

21 January 2018

1 reference

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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

21 January 2018

1 reference

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Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

21 January 2018

1 reference

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Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Intermediate filaments: structure, dynamics, function, and disease

21 January 2018

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Dynamin and its role in membrane fission

21 January 2018

1 reference

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Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

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Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

21 January 2018

1 reference

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Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

21 January 2018

1 reference

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Improved detection of hydrophilic phosphopeptides using graphite powder microcolumns and mass spectrometry: evidence for in vivo doubly phosphorylated dynamin I and dynamin III.

21 January 2018

1 reference

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The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

21 January 2018

1 reference

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Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations

21 January 2018

1 reference

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21 January 2018

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Regulation of connexin biosynthesis, assembly, gap junction formation, and removal

21 January 2018

1 reference

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Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

21 January 2018

2 references

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

21 January 2018

12 December 2020

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

Cdk5 is essential for synaptic vesicle endocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

The large GTPase dynamin associates with the spindle midzone and is required for cytokinesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A123

Transient expression of the neurofilament proteins NF-L and NF-M by Schwann cells is regulated by axonal contact

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurofilament transport in vivo minimally requires hetero-oligomer formation

1 reference

12 December 2020

Slow axonal transport: the subunit transport model

1 reference

12 December 2020

Altered trafficking of mutant connexin32

1 reference

12 December 2020

Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study

1 reference

12 December 2020

Charcot-Marie-Tooth disease: an intermediate form

1 reference

12 December 2020

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

1 reference

12 December 2020

Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease

1 reference

12 December 2020

Peroneal muscular atrophy. Part 2. Nerve biopsy studies

1 reference

12 December 2020

Hereditary motor-sensory neuropathy (HMSN): possible X-linked dominant inheritance

1 reference

12 December 2020

Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families

1 reference

12 December 2020

Wide spectrum of motor conduction velocity in Charcot-Marie-Tooth disease. An anatomico-physiological interpretation

1 reference

12 December 2020

The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification

1 reference

12 December 2020

Extreme slowing of nerve conduction in peroneal muscular atrophy

1 reference

12 December 2020

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice

1 reference

12 December 2020

Crucial role for the myelin-associated glycoprotein in the maintenance of axon-myelin integrity

1 reference

12 December 2020

Identifiers

DOI

10.1385/NMM:8:1-2:123

1 reference

Dimensions Publication ID

14 August 2017

1027099269

0 references

1 reference