Yoshida T, Yamazaki H, Nishimori Y, Takamatsu N, Fukushima K, Osaki Y, Taniguchi Y, Nozaki T, Kumon Y, Albayda J, Nishino I, Izumi Y.
Correlation of muscle ultrasound with clinical and pathological findings in idiopathic inflammatory myopathies. Muscle Nerve. 2023 Apr 28. [Online ahead of print]
Suzuki N, Mori-Yoshimura M, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M.
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan. J Neuromuscul Dis. 2023 Apr 25. [Online ahead of print]
Tokuda N, Tsuji Y, Inoue M, Nishino I, Makino M.
A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile). Cureus. 2023 Apr 19; 15(4): e37824.
Terayama A, Yoshikawa K, Michiura T, Fujii K, Inada R, Mitsui Y, Nishino I, Nagai Y.
A case of thymoma-associated myasthenia gravis accompanied with myositis showing the clusters of histiocyte along the fascicles in perimysium. Clin Neurol Neurosurg. 2023 Apr 11;229:107715. [Online ahead of print]
Motegi H, Kirino Y, Morishita R, Nishino I, Suzuki S.
Overlap syndrome with antibodies against multiple transfer-RNA components presenting antisynthetase syndrome. Neuromuscul Disord. 2023 Mar 17;33(5):405-409. [Online ahead of print]
Yamada K, Yaguchi H, Abe M, Ishikawa K, Tanaka D, Oshima Y, Kudo A, Uwatoko H, Shirai S, Takahashi-Iwata I, Matsushima M, Nishino I, Yabe I.
Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant. Clin Neurol Neurosurg. 2023 May;228:107670. Epub 2023 Mar 13.
Tanboon J, Inoue M, Hirakawa S, Tachimori H, Hayashi S, Noguchi S, Okiyama N, Fujimoto M, Suzuki S, Nishino I.
Muscle pathology of antisynthetase syndrome according to antibody subtypes. Brain Pathol. 2023 Mar 7:e13155.[Online ahead of print]
Yamashita S, Nagatoshi A, Takeuchi Y, Nishino I, Ueda M.
Myopathic changes caused by protein aggregates in adult-onset spinal muscular atrophy. Neuropathology. 2023 Mar 2. [Online ahead of print]
Takahashi Y, Morimoto N, Nada T, Morimoto M, Eura N, Minami N, Nishino I.
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion. J Neuromuscul Dis. 2023 Feb 18. [Online ahead of print]
Miyashita K, Ii Y, Matsuyama H, Niwa A, Kawana Y, Shibata S, Minami N, Nishino I, Tomimoto H.
Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient: A Case Report. Intern Med. 2023 Feb 15. [Online ahead of print]
Ohnuki Y, Suzuki S, Uruha A, Oyama M, Suzuki S, Kulski JK, Nishino I, Shiina T.
Association of immune-mediated necrotizing myopathy with HLA polymorphisms. HLA. 2023 May;101(5):449-457. Epub 2023 Jan 15.
Sasaki R, Yunoki T, Nakano Y, Fukui Y, Takemoto M, Morihara R, Katsuyama E, Nishino I, Yamashita T.
A young female case of asymptomatic immune-mediated necrotizing myopathy: a potential diagnostic option of antibody testing for rhabdomyolysis. Neuromuscul Disord. 2023 Feb;33(2):183-186. Epub 2022 Dec 24.
Inoue M, Noguchi S, Inoue YU, Iida A, Ogawa M, Bengoechea R, Pittman SK, Hayashi S, Watanabe K, Hosoi Y, Sano T, Takao M, Oya Y, Takahashi Y, Miyajima H, Weihl CC, Inoue T, Nishino I.
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4. Acta Neuropathol. 2023 Feb;145(2):235-255. Epub 2022 Dec 13.
Taira K, Mori-Yoshimura M, Yamamoto T, Oya Y, Nishino I, Takahashi Y.
Clinical characteristics of dysphagic inclusion body myositis. Neuromuscul Disord. 2023 Feb;33(2):133-138. Epub 2022 Nov 29.
Kurashige T, Morino H, Ueno H, Murao T, Watanabe T, Hinoi T, Nishino I, Torii T, Maruyama H.
Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients. J Hum Genet. 2023 Feb;68(2):91-95. Epub 2022 Nov 7.
Matsui N, Takahara M, Yamazaki H, Takamatsu N, Osaki Y, Kaji R, Nishino I, Yamashita S, Izumi Y.
Case of anti-NT5c1A antibody-seropositive inclusion body myositis associated with severe dysphagia and prominent forearm weakness. Neurol Clin Neurosci. 2023 Jan;11(1): 46-48.
Okubo M, Noguchi S, Awaya T, Hosokawa M, Tsukui N, Ogawa M, Hayashi S, Komaki H, Mori-Yoshimura M, Oya Y, Takahashi Y, Fukuyama T, Funato M, Hosokawa Y, Kinoshita S, Matsumura T, Nakamura S, Oshiro A, Terashima H, Nagasawa T, Sato T, Shimada Y, Tokita Y, Hagiwara M, Ogata K, Nishino I.
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy. Hum Genet. 2023 Jan;142(1):59-71. Epub 2022 Sep 1.
Kainaga M, Sasaki T, Kitamura M, Nakayama T, Masuda K, Kakuta Y, Nishino I, Imafuku I.
Inflammatory Myopathy Associated with Anti-mitochondrial Antibody-negative Primary Biliary Cholangitis Diagnosed by a Liver Biopsy: A Case Report. Intern Med. 2023 Mar 1;62(5):797-802. Epub 2022 Aug 10.