(Q40807237)

23 September 2017

1 reference

title

Hereditary demyelinating motor and sensory neuropathy (English)

1 reference

23 September 2017

author

Fons John Marie Gabreëls

series ordinal

object named as

Gabreëls F

1 reference

23 September 2017

Gabreëls-Festen A

1 reference

23 September 2017

language of work or name

1 reference

1 April 1993

1 reference

23 September 2017

1 reference

23 September 2017

1 reference

23 September 2017

1 reference

23 September 2017

page(s)

135-146

1 reference

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

23 September 2017

cites work

1 reference

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Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00738.X

Autosomal recessive form of hereditary motor and sensory neuropathy type I.

21 January 2018

1 reference

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Congenital hypomyelination polyneuropathy. Pathological findings compared with polyneuropathies starting later in life

21 January 2018

1 reference

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Electron-microscopic heterogeneity of onion-bulb neuropathies of the Déjerine-Sottas type. Two patients in one family with the variant described by Lyon (1969).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00738.X

A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00738.X

Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita

21 January 2018

1 reference

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Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc? receptor gene region

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00738.X

Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography

21 January 2018

1 reference

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De-novo mutation in hereditary motor and sensory neuropathy type I.

21 January 2018

1 reference

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Dynamic aspects of peripheral nerve changes in progressive neural muscular atrophy: light- and electronmicroscopic studies of serial nerve biopsies

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00738.X

Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves

21 January 2018

1 reference

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Hereditary hypertrophic neuropathy in the trembler mouse. Part 1. Histopathological studies: light microscopy

21 January 2018

1 reference

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Hereditary hypertrophic neuropathy in the trembler mouse. Part 2. Histopathological studies: electron microscopy

21 January 2018

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Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

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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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

21 January 2018

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Chronic polyradiculoneuropathy of infancy. A report of three cases with familial incidence

21 January 2018

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Hypertrophic interstitial polyneuropathy in infancy. Clinical and pathologic features in two cases.

21 January 2018

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A case report of congenital hypomyelination.

21 January 2018

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Two cases of congenital hypomyelination neuropathy

21 January 2018

1 reference

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Sensory neuropathy with onion-bulb formation. Report of a case with onset in infancy

21 January 2018

1 reference

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A case of Dejerine-Sottas disease with prominent ataxia and brain stem involvement. A clinical, electrophysiological, otoneurologic, and ultrastructural study

21 January 2018

1 reference

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THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY

21 January 2018

1 reference

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

21 January 2018

1 reference

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Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00738.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1993.TB00738.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.1750-3639.1993.TB00738.X

10.1111/J.1750-3639.1993.TB00738.X

21 January 2018

Identifiers

DOI

1 reference

23 September 2017

1 reference