(Q41170740)

27 September 2017

1 reference

title

The pathology of charcot-marie-tooth disease and related disorders (English)

1 reference

27 September 2017

Thomas PK

1

1 reference

27 September 2017

King RH

series ordinal

2

1 reference

27 September 2017

Small JR

series ordinal

3

1 reference

27 September 2017

Robertson AM

series ordinal

4

1 reference

27 September 2017

1 August 1996

1 reference

Neuropathology and Applied Neurobiology

27 September 2017

1 reference

27 September 2017

22

1 reference

27 September 2017

4

1 reference

27 September 2017

269-284

1 reference

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

27 September 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Connexin mutations in X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

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

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Hereditary demyelinating motor and sensory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

X-linked dominant hereditary motor and sensory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

A growth arrest-specific (gas) gene codes for a membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.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.1365-2990.1996.TB01105.X

Abnormal auditory evoked potentials in hereditary motor-sensory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.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.1365-2990.1996.TB01105.X

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.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.1365-2990.1996.TB01105.X

Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

An epidemic of optic neuropathy and painful sensory neuropathy in Cuba: clinical aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

A myelin protein is encoded by the homologue of a growth arrest-specific gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.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.1365-2990.1996.TB01105.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.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.1365-2990.1996.TB01105.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.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.1365-2990.1996.TB01105.X

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.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.1365-2990.1996.TB01105.X

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.1996.TB01105.X

10.1111/J.1365-2990.1996.TB01105.X

21 January 2018

Identifiers

DOI

1 reference

27 September 2017

1 reference