Nakamori M, Hamanaka K, Thomas JD, Wang ET, Hayashi YK, Takahashi MP, Swanson MS, Nishino I, Mochizuki H.
Aberrant Myokine Signaling in Congenital Myotonic Dystrophy. Cell Rep.2017 Oct 31;21(5):1240-1252.
Uruha A, Suzuki S, Nishino I
Diagnosis of dermatomyositis: Autoantibody profile and muscle pathology. Clin Exp Neuroimmunol. 2017 Nov;8(1): 302-312.
Cortese A, Laurà M, Casali C, Nishino I , Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, Moggio M, Ripolone M, Prelle A, Pisciotta C, Sagnelli A, Pichiecchio A, Reilly MM, Buratti E, Pareyson D.
Altered tdp-43 dependent splicing in hspb8-related distal hereditary motor neuropathy and myofibrillar myopathy. Eur J Neurol. 2017 Oct 13. [Epub ahead of print]
Okubo M, Goto K, Komaki H, Nakamura H, Mori-Yoshimura M, Hayashi YK, Mitsuhashi S, Noguchi S, Kimura E, Nishino I.
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. Orphanet J Rare Dis. 2017 Aug 31;12(1):149.
Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Sato N, Nonaka I, Goto YI, Nishino I.
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. Neurol Genet. 2017 Sep 8;3(5):e184.
Hibino S, Takeda A, Nishino I, Iwata N, Nakano M, Tanaka K, Yamakawa S, Nagai T, Uemura O.
Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35. Intern Med. 2017;56(14):1849-1853. Epub 2017 Jul 15.
Uruha A, Suzuki S, Nishino I.
Author update: Sarcoplasmic MxA expression: A valuable marker of dermatomyositis. Neurology. 2017 Jul 11;89(2):215.
Thomas JD, Sznajder ŁJ, Bardhi O, Aslam FN, Anastasiadis ZP, Scotti MM, Nishino I, Nakamori M, Wang ET, Swanson MS.
Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy. Genes Dev. 2017 Jun 1;31(11):1122-1133. Epub 2017 Jul 11.
Noguchi E, Uruha A, Suzuki S, Hamanaka K, Ohnuki Y, Tsugawa J, Watanabe Y, Nakahara J, Shiina T, Suzuki N, Nishino I.
Skeletal Muscle Involvement in Antisynthetase Syndrome. JAMA Neurol. 2017 Aug 1;74(8):992-999.
Cho A, Malicdan MCV, Miyakawa M, Nonaka I, Nishino I, Noguchi S.
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy. Hum Mol Genet. 2017 Aug 15;26(16):3081-3093.
Suzuki S, Uruha A, Suzuki N, Nishino I.
Integrated Diagnosis Project for Inflammatory Myopathies: An association between autoantibodies and muscle pathology. Autoimmun Rev. 2017 Jul;16(7):693-700. Epub 2017 May 4. Review.
Takeshita E, Minami N, Minami K, Suzuki M, Awashima T, Ishiyama A, Komaki H, Nishino I, Sasaki M.
Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions. Neuromuscul Disord. 2017 Jun;27(6):569-573. Epub 2017 Apr 3.
Inoue Y, Murakami T, Nakamura T, Morita K, Kaneda D, Nishino I, Hayashi T, Shinoto Y, Hatoko T, Kato T, Yonemitsu S, Muro S, Oki S.
Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Amyotrophic Lateral Sclerosis in a Patient Developing Carbon Dioxide Narcosis. Intern Med. 2017;56(7):797-803. Epub 2017 Apr 1
Tomioka I, Ishibashi H, Minakawa EN, Motohashi HH, Takayama O, Saito Y, Popiel HA, Puentes S, Owari K, Nakatani T, Nogami N, Yamamoto K, Noguchi S, Yonekawa T, Tanaka Y, Fujita N, Suzuki H, Kikuchi H, Aizawa S, Nagano S, Yamada D, Nishino I, Ichinohe N, Wada K, Kohsaka S, Nagai Y, Seki K.
Transgenic Monkey Model of the Polyglutamine Diseases Recapitulating Progressive Neurological Symptoms. eNeuro. 4(2). eCollection 2017 Mar-Apr.
Oguri M, Saito Y, Okazaki T, Matsumura W, Ohno K, Togawa M, Fukuda C, Saito Y, Nishino I, Maegaki Y.
Surface electromyogram and muscle ultrasonography for detection of muscle fasciculations in pediatric peripheral neuropathy. Brain Dev. 2017 Aug;39(7):617-620. Epub 2017 Mar 16.
Kadoya M, Ogata K, Suzuki M, Honma Y, Momma K, Yatabe K, Tamura T, Kaida K, Miyata N, Nishino I, Nonaka I, Kawai M.
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties. Neuromuscul Disord. 2017 May;27(5):477-480.
Liang WC, Tian X, Yuo CY, Chen WZ, Kan TM, Su YN, Nishino I, Wong LC, Jong YJ.
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. PLoS One. 2017 Feb 9;12(2):e0170517.
Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K.
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome. J Hum Genet. 2017 Jun;62(6):653-655. Epub 2017 Feb 2.
Tsunoda K, Yamashita T, Motokura E, Takahashi Y, Sato K, Takemoto M, Hishikawa N, Ohta Y, Nishikawa A, Nishino I, Abe K.
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. J Neurol Sci. 2017 Feb 15;373:254-257.
Tanaka T, Suzuki S, Nishino I, Hamaguchi Y, Fujimoto T.
What is the third serological marker associated with immune-mediated necrotizing myopathy? Scand J Rheumatol.2017 Sep;46(5):416-417. Epub 2017 Jan 9.
Mukai M, Nagata E, Mizuma A, Yamano M, Sugaya K, Nishino I, Goto YI, Takizawa S.
Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes. Intern Med. 2017 Jan; 56(1):95-99.
Noguchi S, Ogawa M, Malicdan MC, Nonaka I, Nishino I.
Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy. EBioMedicine. 2017 Feb;15:193-202.
Zhu W, Mitsuhashi S, Yonekawa T, Noguchi S, Huei JC, Nalini A, Preethish-Kumar V, Yamamoto M, Murakata K, Mori-Yoshimura M, Kamada S, Yahikozawa H, Karasawa M, Kimura S, Yamashita F, Nishino I.
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. J Hum Genet. 2017 Feb;62(2):159-166.
Nishikawa A, Mitsuhashi S, Miyata N, Nishino I.
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders. J Med Genet. 2017 Feb;54(2):104-110.