Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease (Q36507144)

14 August 2017

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title

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease (English)

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14 August 2017

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14 August 2017

Stephan Züchner

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14 August 2017

publication date

1 January 2006

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14 August 2017

published in

NeuroMolecular Medicine

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14 August 2017

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14 August 2017

issue

1-2

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14 August 2017

page(s)

63-74

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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

14 August 2017

cites work

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Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3.

21 January 2018

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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

21 January 2018

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A radiation hybrid map of human chromosome 11q22-q23 containing the ataxia-telangiectasia disease locus

21 January 2018

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HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27)

21 January 2018

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Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family

21 January 2018

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

21 January 2018

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HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells.

21 January 2018

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Mitochondrial dynamics in mammals

21 January 2018

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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

21 January 2018

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

21 January 2018

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

21 January 2018

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Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis

21 January 2018

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

21 January 2018

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Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.

21 January 2018

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Rab 7: an important regulator of late endocytic membrane traffic

21 January 2018

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Chaperone-like activity of alpha-crystallin and other small heat shock proteins

21 January 2018

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A novel RAB7 mutation associated with ulcero-mutilating neuropathy

21 January 2018

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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

21 January 2018

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

21 January 2018

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The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10

21 January 2018

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Structural basis of mitochondrial tethering by mitofusin complexes.

21 January 2018

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Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes

21 January 2018

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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

21 January 2018

1 reference

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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).

21 January 2018

1 reference

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

21 January 2018

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Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

21 January 2018

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Mitochondrial transmission during mating in Saccharomyces cerevisiae is determined by mitochondrial fusion and fission and the intramitochondrial segregation of mitochondrial DNA

21 January 2018

1 reference

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GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

Mammalian small stress proteins protect against oxidative stress through their ability to increase glucose-6-phosphate dehydrogenase activity and by maintaining optimal cellular detoxifying machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

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

21 January 2018

1 reference

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Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

21 January 2018

2 references

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

21 January 2018

12 December 2020

Phenotypic clustering in MPZ mutations

1 reference

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

21 January 2018

1 reference

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Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

Demyelinating neuropathies

21 January 2018

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Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1385%2FNMM%3A8%3A1-2%3A63

Constitutive expression of human hsp27, Drosophila hsp27, or human alpha B-crystallin confers resistance to TNF- and oxidative stress-induced cytotoxicity in stably transfected murine L929 fibroblasts.

21 January 2018

1 reference

12 December 2020

Rab4 and Rab7 define distinct nonoverlapping endosomal compartments

1 reference

12 December 2020

Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A

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12 December 2020

Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene

1 reference

12 December 2020

Human glycyl-tRNA synthetase. Wide divergence of primary structure from bacterial counterpart and species-specific aminoacylation.

1 reference

12 December 2020

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

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12 December 2020

Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo

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12 December 2020

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene

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12 December 2020

Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.

1 reference

12 December 2020

Hereditary sensory neuropathies

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12 December 2020

The rab7 GTPase resides on a vesicular compartment connected to lysosomes

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

Genetic aspects of hereditary motor and sensory neuropathy (types I and II)

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12 December 2020

Control of mitochondrial morphology by a human mitofusin

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12 December 2020

The many faces of Charcot-Marie-Tooth disease

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12 December 2020

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

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12 December 2020

Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene

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12 December 2020

Identifiers

DOI

10.1385/NMM:8:1-2:63

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Dimensions Publication ID

14 August 2017

1039079781

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