(Q35243901)

7 August 2017

1 reference

title

Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1341967

16 September 2022

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1341967

16 September 2022

author name string

J. R. Lupski

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1341967

16 September 2022

C. A. Garcia

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1341967

16 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1341967

16 September 2022

publication date

1 October 1992

1 reference

7 August 2017

1 reference

7 August 2017

volume

2

1 reference

7 August 2017

issue

4

1 reference

7 August 2017

page(s)

337-349

1 reference

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

7 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

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.1750-3639.1992.TB00710.X

Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.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.1750-3639.1992.TB00710.X

Interstitial deletion of (17)(p11.2p11.2) in nine patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Contiguous gene syndromes: a component of recognizable syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Detection of specific sequences among DNA fragments separated by gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Hereditary demyelinating neuropathy in the Trembler mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Trembler mouse carries a point mutation in a myelin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.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.1750-3639.1992.TB00710.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.1750-3639.1992.TB00710.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.1750-3639.1992.TB00710.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.1750-3639.1992.TB00710.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.1750-3639.1992.TB00710.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.1750-3639.1992.TB00710.X

Recurrent experimental allergic neuritis. An electron microscope study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Demyelination and remyelination in recurrent idiopathic polyneuropathy. An electron microscope study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Hereditary chronic polyneuropathy. Electrophysiological and pathological studies in an affected family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.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.1750-3639.1992.TB00710.X

Hypertrophic Charcot-Marie-Tooth disease. Light and electron microscope studies of the sural nerve

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

The significance of giant vacuolation of endoneurial fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Abnormal myelination in transplanted Trembler mouse Schwann cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.X

Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1992.TB00710.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.1750-3639.1992.TB00710.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.1750-3639.1992.TB00710.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.1750-3639.1992.TB00710.X

10.1111/J.1750-3639.1992.TB00710.X

21 January 2018

Identifiers

DOI

1 reference

7 August 2017

1 reference