(Q84674597)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22847150%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation (English)

1 reference

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9 February 2020

author name string

Shoko Tokunaga

1

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9 February 2020

Akihiro Hashiguchi

2

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9 February 2020

Akiko Yoshimura

3

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9 February 2020

Kengo Maeda

4

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9 February 2020

Takashi Suzuki

5

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9 February 2020

Hiroyo Haruki

6

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9 February 2020

Tomonori Nakamura

7

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9 February 2020

Yuji Okamoto

8

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9 February 2020

Hiroshi Takashima

9

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9 February 2020

publication date

1 August 2012

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9 February 2020

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9 February 2020

volume

13

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9 February 2020

issue

4

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9 February 2020

page(s)

359-365

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Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome

9 February 2020

cites work

1 reference

12 December 2020

Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice

1 reference

12 December 2020

Four novel cases of periaxin-related neuropathy and review of the literature.

1 reference

12 December 2020

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

1 reference

12 December 2020

A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments

1 reference

12 December 2020

Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves.

1 reference

12 December 2020

The small proline-rich proteins constitute a multigene family of differentially regulated cornified cell envelope precursor proteins

1 reference

12 December 2020

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

1 reference

12 December 2020

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease

1 reference

12 December 2020

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

1 reference

12 December 2020

Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays

1 reference

12 December 2020

Diagnosis of Charcot-Marie-Tooth disease.

1 reference

12 December 2020

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

1 reference

12 December 2020

Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells

1 reference

12 December 2020

Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy

1 reference

12 December 2020

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

1 reference

12 December 2020

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

1 reference

12 December 2020

A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT

1 reference

12 December 2020

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

1 reference

12 December 2020

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

1 reference

12 December 2020

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene

1 reference

12 December 2020

Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins

1 reference

12 December 2020

Laryngeal neuropathy of Charcot-Marie-Tooth disease: further observations and novel mutations associated with vocal fold paresis.

1 reference

12 December 2020

Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease

1 reference

12 December 2020

10.1007/S10048-012-0338-5

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22847150%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

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