(Q33748114)

29 July 2017

1 reference

title

Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis (English)

1 reference

29 July 2017

D Pareyson

1

1 reference

PubMed ID

10514227

29 July 2017

language of work or name

1 reference

1 November 1999

1 reference

29 July 2017

1 reference

29 July 2017

22

1 reference

29 July 2017

11

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29 July 2017

1498-1509

1 reference

Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22.

29 July 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Connexin32 and X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Hereditary demyelinating motor and sensory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Investigations into the neurologic basis of narcolepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with "zinc-binding finger" structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Sex-dependent rearrangements resulting in CMT1A and HNPP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Animal models for inherited peripheral neuropathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Many facets of the peripheral myelin protein PMP22 in myelination and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Genetically determined neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Connexin32-null mice develop demyelinating peripheral neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

The phenotypic manifestations of chromosome 17p11.2 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Krox-20 controls myelination in the peripheral nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Myelin Po protein mutated at Cys21 has a dominant-negative effect on adhesion of wild type Po.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

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/10.1002%2F%28SICI%291097-4598%28199911%2922%3A11%3C1498%3A%3AAID-MUS4%3E3.0.CO%3B2-9

10.1002/(SICI)1097-4598(199911)22:11<1498::AID-MUS4>3.0.CO;2-9

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference

PubMed ID

10514227