Umemoto D, Nishino I, Yamashita D, Ishimaru N, Nishioka H.
Small-vessel vasculitis associated with cholesterol embolism: a case report. BMC Rheumatol. 2024 Dec 5;8(1):66.
Imai K, Nastume T, Shirai M, Motobayashi M, Ishiyama A, Suzuki S, Nishino I, Nakamura A, Inaba Y.
Diagnostic Difficulty in a Girl With Anti-Signal Recognition Particle Myopathy With a Slow Progressive Course. J Clin Neuromuscul Dis. 2024 Dec 1;26(2):102-105.
Dofash LNH, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, Donkervoort S, Bönnemann CG, Sud M, VanNoy GE, Mangilog BE, Pais L, O'Donnell-Luria A, Madruga-Garrido M, Scala M, Fiorillo C, Baratto S, Traverso M, Malfatti E, Bruno C, Zara F, Paradas C, Ogata K, Nishino I, Laing NG, Bryson-Richardson RJ, Cabrera-Serrano M, Ravenscroft G.
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model. Brain. 2024 Nov 12:awae371. [Online ahead of print]
Sakai K, Yamada S, Higuchi Y, Nishino I.
Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset. Intern Med. 2024 Oct 18. [Online ahead of print]
Sugie K, Nishino I.
History and Perspective of LAMP-2 Deficiency (Danon Disease). Biomolecules. 2024 Oct 9;14(10):1272.(Review)
Murayama A, Nagaoka U, Sugaya K, Shimazaki R, Miyamoto K, Matsubara S, Ogasawara M, Iida A, Nishino I, Takahashi K.
Sequential development of parkinsonism in two patients with oculopharyngodistal type myopathy in GIPC1-related repeat expansion disorder. Neuromuscul Disord. 2024 Nov;44:104465. Epub 2024 Sep 27.
Baskar D, Reddy N, Preethish-Kumar V, Polavarapu K, Nishadham V, Vengalil S, Nashi S, Sanka SB, Bardhan M, Huddar A, Unnikrishnan G, Harikrishna GV, Gunasekaran S, Thomas PT, Keerthipriya MS, Girija MS, Arunachal G, Anjanappa RM, Nishino I, Pogoryelova O, Lochmuller H, Nalini A.
GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort. J Neuromuscul Dis. 2024;11(5):959-968.
Pongpakdee S, Apiwattanakul M, Termglinchan T, Witoonpanich R, Dejthevaporn C, Lee T, Wansophonkul S, Yamanaka A, Funaguma S, Iida A, Nishino I.
CGG/CCG Repeat Expansions in LOC642361/ NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy. Neurol Genet. 2024 Aug 21;10(5):e200189.
Nishikawa Y, Hasegawa K, Abe H, Matsuzawa S, Isayama T, Nakashima R, Saito Y, Nishino I, Kuwana M.
Development of an immunoprecipitation assay for detecting anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies using a non-radioactive biotinylated recombinant protein. Clin Exp Neuroimmunol. 2024 Aug 18. [Online ahead of print]
Kikuchi S, Saito Y, Tateishi T, Irie KI, Imai T, Morimitsu M, Iwanaga E, Watts MR, Taniwaki T, Nishino I.
A 73-year-old Japanese Woman With Rheumatoid Arthritis and Exposure to Water From a Well. Clin Infect Dis. 2024 Aug 16;79(2):564-567.
Yamashita S, Tawara N, Sugie K, Suzuki N, Nishino I, Aoki M.
Impact of sex, age at onset, and anti-cN1A antibodies on sporadic inclusion body myositis. J Neurol Sci. 2024 Sep 15;464:123164. Epub 2024 Aug 6.
El Sherif R, Saito Y, Hussein RS, Izu Y, Koch M, Noguchi S, Nishino I.
A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review. Neuropathol Appl Neurobiol. 2024 Aug;50(4):e13004.
Morimoto M, Ryu E, Steger BJ, Dixit A, Saito Y, Yoo J, van der Ven AT, Hauser N, Steinbach PJ, Oura K, Huang AY, Kortüm F, Ninomiya S, Rosenthal EA, Robinson HK, Guegan K, Denecke J, Subramony SH, Diamonstein CJ, Ping J, Fenner M, Balton EV, Strohbehn S, Allworth A, Bamshad MJ, Gandhi M, Dipple KM, Blue EE, Jarvik GP; University of Washington Center for Rare Disease Research; Lau CC, Holm IA, Weisz-Hubshman M, Solomon BD; Undiagnosed Diseases Network; Nelson SF, Nishino I, Adams DR, Kang S, Gahl WA, Toro C, Myung K, Malicdan MCV.
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder. Am J Hum Genet. 2024 Sep 5;111(9):1970-1993. Epub 2024 Aug 5.
Kimura S, Miyake N, Ozasa S, Ueno H, Ohtani Y, Takaoka Y, Nishino I.
Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle. Neuropathology. 2024 Dec;44(6):411-421. Epub 2024 Jul 16.
Ogasawara M, Nishino I.
Update on RYR1-related myopathies. Curr Opin Neurol. 2024 Oct 1;37(5):504-508. Epub 2024 Jul 12.(Review)
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.
Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study. J Neurol Neurosurg Psychiatry.2024 Oct 16;95(11):1093-1094.
Yoshioka W, Nakamura H, Oba M, Saito Y, Nishino I, Mori-Yoshimura M.
Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan. J Neurol. 2024 Jul;271(7):4453-4461. Epub 2024 May 1.
Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SA, Voermans NC, Lemmers RJLF.
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clin Genet. 2024 Jul;106(1):13-26. Epub 2024 Apr 29. (Review)
Takeuchi Y, Masuda T, Kimura N, Sumi K, Jikumaru M, Eura N, Nishino I, Matsubara E.
X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement. Intern Med. 2024 Dec 15;63(24):3371-3375. Epub 2024 Apr 16.
Oyama M, Holzer MT, Ohnuki Y, Saito Y, Nishimori Y, Suzuki S, Shiina T, Leonard-Louis S, Benveniste O, Schneider U, Stenzel W, Nishino I, Suzuki S, Uruha A.
Pathologic Features of Anti-Ku Myositis. Neurology. 2024 Apr 23;102(8):e209268. Epub 2024 Mar 28.
El Sherif R, Saito Y, Awaya T, Noguchi S, Nishino I.
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD. Neurol Genet. 2024 Mar 25;10(2):e200137. eCollection 2024 Apr.
Komaki S, Kubota A, Katsuse K, Kitamura A, Maeda M, Matsukawa T, Eura N, Saito Y, Nishino I, Toda T.
A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3. Intern Med. 2024 Nov 15;63(22):3083-3086. Epub 2024 Mar 18.
Lilleker JB, Naddaf E, Saris CGJ, Schmidt J, de Visser M, Weihl CC; 272nd ENMC workshop participants; Alexandersson H, Alfano L, Allenbach Y, Badrising U, Benveniste O, Bhai S, De Bleecker J, Breeveld MC, Chinoy H, Diederichsen L, Dimachkie M, Greenberg S, Johari M, Lilleker J, Lindgren U, Lloyd T, Machado P, Mozaffar T, Mischke R, Naddaf E, Needham M, Nishino I, Oldfors A, Saris C, Schmidt J, Stenzel W, Tasca G, de Visser M, Weihl C.
272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16-18 June 2023, Hoofddorp, The Netherlands. Neuromuscul Disord. 2024 Apr;37:36-51. Epub 2024 Mar 7.
Hamaguchi T, Nishino I, Hirano Y, Uchida N, Fujita-Nakata M, Nakanishi M, Sakai T, Asahina M.
Sporadic Late-onset Nemaline Myopathy Associated with Sjögren's Syndrome: A Case Report. Intern Med. 2024 Oct 1;63(19):2683-2687. Epub 2024 Mar 4.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet. 2024 Mar;56(3):395-407. Epub 2024 Mar 1.
Izumi R, Warita H, Niihori T, Furusawa Y, Nakano M, Oya Y, Kato K, Shiga T, Ikeda K, Suzuki N, Nishino I, Aoki Y, Aoki M.
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps. Cerebellum. 2024 Aug;23(4):1498-1508. Epub 2024 Feb 7.
Konishi R, Ichimura Y, Tanaka R, Miyahara H, Okune M, Miyamoto M, Hara M, Iwabuchi A, Takada H, Nakagishi Y, Mizuta M, Kaneko S, Shimizu M, Morio T, Nishino I, Nomura T, Okiyama N.
Possible correlation between serum interleukin-8 levels and the activity of myositis in anti-NXP2 antibody-positive dermatomyositis. Immunol Med. 2024 Jun;47(2):100-105. Epub 2024 Jan 4.
Saito M, Uchiyama A, Kim J, Endo Y, Yasuda M, Aoki S, Ikeda Y, Nishino I, Motegi SI.
Case report of anti-survival motor neuron complex antibody-positive overlap syndrome of diffuse cutaneous systemic sclerosis and idiopathic inflammatory myopathies. J Dermatol. 2024 Jun;51(6):e190-e192. Epub 2023 Dec 27.
Saito Y, Ishiyama A, Saito Y, Komaki H, Sasaki M.
Myelin abnormalities in merosin-deficient congenital muscular dystrophy. Muscle Nerve. 2024 Jan;69(1):55-63. Epub 2023 Nov 7.
Fukushima K, Yoshida T, Yamazaki H, Takamatsu N, Nagai T, Osaki Y, Harada M, Nishino I, Okiyama N, Sugie K, Izumi Y.
Anti-NXP2 Antibody-positive Juvenile Dermatomyositis with Characteristic Fascial Thickening on Muscle Ultrasound and Improvement with Immunotherapy. Intern Med. 2024 Jun 15;63(12):1813-1817.
Epub 2023 Nov 6.
Fujisaki M, Kasamatsu H, Nishimura K, Yoshida Y, Muneishi Y, Yamaguchi T, Nishino I, Konishi R, Ichimura Y, Okiyama N, Oyama N, Hasegawa M.
A case of anti-SAE1/2 antibody-positive dermatomyositis with extensive panniculitis: A possible cutaneous manifestation of treatment resistance. J Dermatol. 2024 Feb;51(2):301-306. Epub 2023 Oct 13.
Umemoto D, Kanzawa Y, Nakamura T, Nishino I, Mizuki S, Ohnishi J, Nakajima T, Ishimaru N, Kinami S.
Immune-mediated Necrotizing Myopathy in a Patient with Microscopic Polyangiitis: A Case Report. Intern Med. 2024 May 15;63(10):1485-1490. Epub 2023 Oct 6.
Eura N, Ogasawara M, Nishino I.
Recent topics of oculopharyngodistal myopathy. Neurol Clin Neurosci. 2024 Jan;12(1):10-15. (Review)