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21 . Academic Journal
The wide-ranging clinical and genetic features in Japanese families with valosin-containing protein proteinopathy
저자
by
Ando, Takashi
;
Nakamura, Ryoichi
;
Kuru, Satoshi
;
Yokoi, Daichi
;
Atsuta, Naoki
, et al.
소스
In
Neurobiology of Aging
April 2021 100:120-120
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27 . Academic Journal
Case report of anti‐survival motor neuron complex antibody‐positive overlap syndrome of diffuse cutaneous systemic sclerosis and idiopathic inflammatory myopathies.
저자
by
Saito, Masatsugu
;
Uchiyama, Akihiko
;
Kim, Jain
;
Endo, Yukie
;
Yasuda, Masahito
, et al.
소스
Journal of Dermatology; Jun2024, Vol. 51 Issue 6, pe190-e192, 3p
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27 . Academic Journal
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations
저자
by
Hamanaka, Kohei
;
Goto, Kanako
;
Arai, Mami
;
Nagao, Koji
;
Obuse, Chikashi
, et al.
소스
In
Neuromuscular Disorders
April-May 2016 26(4-5):300-308
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27 . Academic Journal
Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan
저자
by
Yoshioka, Wakako
;
Nakamura, Harumasa
;
Oba, Mari
;
Saito, Yoshihiko
;
Nishino, Ichizo
, et al.
소스
Journal of Neurology
. :1-9
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27 . Periodical
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
저자
by
Töpf, Ana
;
Cox, Dan
;
Zaharieva, Irina T.
;
Di Leo, Valeria
;
Sarparanta, Jaakko
, et al.
소스
Nature Genetics; March 2024, Vol. 56 Issue: 3 p395-407, 13p
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27 . Academic Journal
Property of Lysosomal Storage Disease Associated with Midbrain Pathology in the Central Nervous System of Lamp-2–Deficient Mice
저자
by
Furuta, Akiko
;
Kikuchi, Hisae
;
Fujita, Hiromi
;
Yamada, Daisuke
;
Fujiwara, Yuuki
, et al.
소스
In
The American Journal of Pathology
June 2015 185(6):1713-1723
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27 . Academic Journal
205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands
저자
by
De Bleecker, Jan L.
;
De Paepe, Boel
;
Aronica, Eleonora
;
de Visser, Marianne
;
Amato, Anthony
, et al.
소스
In
Neuromuscular Disorders
March 2015 25(3):268-272
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27 . Academic Journal
Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy.
저자
by
Eura, Nobuyuki
;
Noguchi, Satoru
;
Ogasawara, Masashi
;
Kumutpongpanich, Theerawat
;
Hayashi, Shinichiro
, et al.
소스
Journal of Neurology
. Dec2023, Vol. 270 Issue 12, p5988-5998. 11p.
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27 . Academic Journal
Myopathic changes caused by protein aggregates in adult‐onset spinal muscular atrophy.
저자
by
Yamashita, Satoshi
;
Nagatoshi, Akihito
;
Takeuchi, Yosuke
;
Nishino, Ichizo
;
Ueda, Mitsuharu
.
소스
Neuropathology
. Oct2023, Vol. 43 Issue 5, p408-412. 5p.
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27 . Academic Journal
Successful treatment of frequent premature ventricular contractions and non-sustained ventricular tachycardia with verapamil and flecainide in RYR1-related myopathy: a case report.
저자
by
Maruo, Yuji
;
Saito, Yoshihiko
;
Nishino, Ichizo
;
Takeda, Atsuhito
.
소스
European Heart Journal Case Reports; Oct2023, Vol. 7 Issue 10, p1-5, 5p
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