(Q33787386)

29 July 2017

1 reference

title

Human nerve pathology caused by different mutational mechanisms of the PMP22 gene (English)

1 reference

29 July 2017

Gabreëls-Festen A

1

1 reference

29 July 2017

Wetering RV

series ordinal

2

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 September 1999

1 reference

Annals of the New York Academy of Sciences

29 July 2017

published in

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29 July 2017

volume

883

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29 July 2017

page(s)

336-343

1 reference

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

29 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Sub-clinical entrapment neuropathy in man

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Animal models for inherited peripheral neuropathies.

21 January 2018

1 reference

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L2/HNK‐1 carbohydrate and protein‐protein interactions mediate the homophilic binding of the neural adhesion molecule P0

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Peripheral myelin protein 22: facts and hypotheses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.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.1749-6632.1999.TB08595.X

THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.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.1749-6632.1999.TB08595.X

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

Nature of the Nerve Lesion caused by a Pneumatic Tourniquet

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08595.X

10.1111/J.1749-6632.1999.TB08595.X

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference