Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations (Q71043073)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

Charcot-Marie-Tooth disease type 1A

15 October 2019

main subject

1 reference

1 reference

A A Gabreëls-Festen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

P A Bolhuis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

J E Hoogendijk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

L J Valentijn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

E J Eshuis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

F J Gabreëls

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

publication date

1 January 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

published in

Acta Neuropathologica

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

page(s)

645-649

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

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

15 October 2019

cites work

1 reference

12 December 2020

Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a)

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Changes of the ratio between myelin thickness and axon diameter in the human developing sural nerve

1 reference

12 December 2020

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

1 reference

12 December 2020

Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters

1 reference

12 December 2020

The status of HMSN type III.

1 reference

12 December 2020

Qualitative and quantitative morphology of human sural nerve at different ages

1 reference

12 December 2020

Homozygous expression of a dominant gene for charcot-marie-tooth neuropathy

1 reference

12 December 2020

The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood

1 reference

12 December 2020

Histologic measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophic neuropathy, and congenital sensory neuropathy

1 reference

12 December 2020

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation

1 reference

12 December 2020

Severe hypomyelination and marked abnormality of conduction in Dejerine-Sottas hypertrophic neuropathy: myelin thickness and compound action potential of sural nerve in vitro

1 reference

12 December 2020

Hypertrophic neuropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Differential expression of two mRNA species indicates a dual function of peripheral myelin protein PMP22 in cell growth and myelination

1 reference

12 December 2020

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

1 reference

12 December 2020

Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination

1 reference

12 December 2020

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Histologic and teased-fiber measurements of sural nerve in disorders of lower motor and primary sensory neurons

1 reference

12 December 2020

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease

1 reference

12 December 2020

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00318579

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8615087%20AND%20SRC:MED&resulttype=core&format=json