(Q24298171)

GOA release 2020-03-11

mitochondrion

1 reference

Charcot-Marie-Tooth disease type 4A

inferred from title

1 reference

Antonio Espert

2

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Laia Pedrola

object named as

Laia Pedrola

1

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Francesc Palau

object named as

Francesc Palau

6

0 references

author name string

Xingyao Wu

3

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Reyes Claramunt

4

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Michael E Shy

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

5

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language of work or name

English

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publication date

15 April 2005

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published in

Human Molecular Genetics

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volume

14

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issue

8

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page(s)

1087-94

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

CMT4A: identification of a Hispanic GDAP1 founder mutation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Electrophysiological findings including single fibre EMG in a family with mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Expression of the murine glutathione S-transferase alpha3 (GSTA3) subunit is markedly induced during adipocyte differentiation: activation of the GSTA3 gene promoter by the pro-adipogenic eicosanoid 15-deoxy-Delta12,14-prostaglandin J2.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Method for detection of specific RNAs in agarose gels by transfer to diazobenzyloxymethyl-paper and hybridization with DNA probes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Human deafness dystonia syndrome is a mitochondrial disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Activation of the phosphatidylinositol 3-kinase/Akt signaling pathway by retinoic acid is required for neural differentiation of SH-SY5Y human neuroblastoma cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Prevalence of hereditary motor and sensory neuropathy in Cantabria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI121

7 January 2021