(Q34997859)

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Inherited neuropathies

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scholarly article

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Europe PubMed Central

PubMed publication ID

5 August 2017

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Europe PubMed Central

Inherited neuropathies. (English)

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Europe PubMed Central

PubMed publication ID

5 August 2017

author name string

Kleopas A Kleopa

1

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Steven S Scherer

2

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

publication date

1 August 2002

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Neurologic Clinics

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Europe PubMed Central

PubMed publication ID

5 August 2017

20

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

679-709

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

On the molecular architecture of myelinated fibers

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional gap junctions in the schwann cell myelin sheath

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Physical and Genetic Mapping of the CMT4A Locus and Exclusion of PMP-2 as the Defect in CMT4A

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

The electrophysiologic profile of Dejerine-Sottas disease (HMSN III)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Connexin32 and X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Connections with connexins: the molecular basis of direct intercellular signaling

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Altered trafficking of mutant connexin32

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Homophilic adhesion of the myelin P0 protein requires glycosylation of both molecules in the homophilic pair

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of myelin Po protein as a homophilic adhesion molecule

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

The autosomal recessive form of CMT disease linked to 5q31-q33.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Kinesin and dynein superfamily proteins and the mechanism of organelle transport

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Endocrinopathies in the family of endoplasmic reticulum (ER) storage diseases: disorders of protein trafficking and the role of ER molecular chaperones

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Recessive Charcot-Marie-tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Animal models for inherited peripheral neuropathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary motor and sensory neuropathy type 2C is genetically distinct from types 2B and 2D

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

THE HYPERTROPHIC FORMS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Distal axonopathy in peripheral nerves of PMP22-mutant mice

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Connexin32-null mice develop demyelinating peripheral neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Conduction block in hereditary neuropathy with susceptibility to pressure palsies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

HMSN III phenotype due to homozygous expression of a dominant HMSN II gene

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Functions of the neurotrophins during nervous system development: what the knockouts are teaching us.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Biology and Genetics of Hereditary Motor and Sensory Neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Two cases of congenital hypomyelination neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A new type of hereditary motor and sensory neuropathy linked to chromosome 3

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

The phenotypic manifestations of chromosome 17p11.2 duplication.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletions of chromosome 17p11.2 in multifocal neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Lethal neonatal autosomal recessive axonal sensorimotor polyneuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth disease: an intermediate form

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Severe infantile axonal neuropathy with respiratory failure

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominant-negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Dose-dependent expression of neuronopathy after experimental pyridoxine intoxication

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0733-8619%2801%2900016-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0733-8619(01)00016-0

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

ResearchGate publication ID

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