SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation (Q28240488)

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9 January 2020

title

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation (English)

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4

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9 January 2020

Andrzej Kochański

7

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Irena Hausmanowa-Petrusewicz

9 January 2020

6

object named as

Irena Hausmanowa-Petrusewicz

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11

James R Lupski

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9

Pedro Mancias

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Gulam Mustafa Saifi

1

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Gulam Mustafa Saifi

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Karen Krajewski

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Karen Krajewski

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author name string

Kinga Szigeti

2

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Wojciech Wiszniewski

3

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Suzanne Reeser

8

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Ian Butler

10

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language of work or name

English

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publication date

1 April 2005

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volume

25

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issue

4

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9 January 2020

page(s)

372-383

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The ubiquitin-proteasome proteolytic pathway: destruction for the sake of construction

9 January 2020

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Periaxin mutations cause recessive Dejerine-Sottas neuropathy

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Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

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Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

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7 January 2021

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

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7 January 2021

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7 January 2021

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

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7 January 2021

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

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7 January 2021

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

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7 January 2021

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7 January 2021

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7 January 2021

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.

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7 January 2021

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7 January 2021

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7 January 2021

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

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7 January 2021

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7 January 2021

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

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7 January 2021

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7 January 2021

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7 January 2021

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy

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7 January 2021

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

1 reference

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7 January 2021

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

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7 January 2021

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

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7 January 2021

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

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7 January 2021

MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

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7 January 2021

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

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7 January 2021

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

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7 January 2021

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20153

2 references

Consolidated OpenCitations Corpus – April 2017

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9 January 2020

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Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017