Radiological findings in siblings with dysferlin mutation with diverse phenotype

Ayako Shioya; Hiroshi Takuma; Toshiaki Takahashi; Akiko Ishii; Masashi Aoki; Akira Tamaoka

doi:10.1016/j.jns.2019.116579

Radiological findings in siblings with dysferlin mutation with diverse phenotype

Ayako Shioya, Hiroshi Takuma, Toshiaki Takahashi, Akiko Ishii, Masashi Aoki, Akira Tamaoka

MED - Medical Sciences

Research output: Contribution to journal › Letter › peer-review

1 Citation (Scopus)

Original language	English
Article number	116579
Journal	Journal of the Neurological Sciences
Volume	409
DOIs	https://doi.org/10.1016/j.jns.2019.116579
Publication status	Published - 2020 Feb 15

Keywords

Dysferlin
Genotype
Muscle CT
Muscle MRI
Phenotype

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10.1016/j.jns.2019.116579

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@article{3a0e6eb6d5234ffca9e515f5613a7d66,

title = "Radiological findings in siblings with dysferlin mutation with diverse phenotype",

keywords = "Dysferlin, Genotype, Muscle CT, Muscle MRI, Phenotype",

author = "Ayako Shioya and Hiroshi Takuma and Toshiaki Takahashi and Akiko Ishii and Masashi Aoki and Akira Tamaoka",

note = "Funding Information: Author Toshiaki Takahashi has received support from Intramural Research Grant ( 29-3 ) for Neurological and Psychiatric Disorders provided from National Center of Neurology and Psychiatry of Japan , AMED under Grant Number JP19ek0109259 . ",

year = "2020",

month = feb,

day = "15",

doi = "10.1016/j.jns.2019.116579",

language = "English",

volume = "409",

journal = "Journal of the Neurological Sciences",

issn = "0022-510X",

publisher = "Elsevier",

}

TY - JOUR

T1 - Radiological findings in siblings with dysferlin mutation with diverse phenotype

AU - Shioya, Ayako

AU - Takuma, Hiroshi

AU - Takahashi, Toshiaki

AU - Ishii, Akiko

AU - Aoki, Masashi

AU - Tamaoka, Akira

N1 - Funding Information: Author Toshiaki Takahashi has received support from Intramural Research Grant ( 29-3 ) for Neurological and Psychiatric Disorders provided from National Center of Neurology and Psychiatry of Japan , AMED under Grant Number JP19ek0109259 .

PY - 2020/2/15

Y1 - 2020/2/15

KW - Dysferlin

KW - Genotype

KW - Muscle CT

KW - Muscle MRI

KW - Phenotype

UR - http://www.scopus.com/inward/record.url?scp=85075261696&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85075261696&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2019.116579

DO - 10.1016/j.jns.2019.116579

M3 - Letter

C2 - 31770675

AN - SCOPUS:85075261696

SN - 0022-510X

VL - 409

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

M1 - 116579

ER -

Radiological findings in siblings with dysferlin mutation with diverse phenotype

Keywords

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