Not logged in Share Save
Genotype-phenotype correlation in recessive DNAJB4 myopathy Inoue, Michio; Jayaraman, Divya; Bengoechea, Rocio; Bhadra, Ankan; Genetti, Casie A.; Aldeeri, Abdulrahman A.; Turan, Betuel; Pacheco-Orozco, Rafael Adrian; Al-Maawali, Almundher; Al Hashmi, Nadia; Zamani, Ayse Guel; Goktas, Emine; Pekcan, Sevgi; Caglar, Hanife Tugce; True, Heather; Beggs, Alan H.; Weihl, Conrad C. Share Save
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy Schiava, Marianela; Ikenaga, Chiseko; Topf, Ana; Caballero-Avila, Marta; Chou, Tsui-Fen; Li, Shan; Wang, Feng; Daw, Jil; Stojkovic, Tanya; Villar-Quiles, Rocio; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Katsuno, Masahisa; Noda, Seiya; Ito, Chihiro; Otsuka, Mieko; Nahir, Sruthi; Manousakis, Georgios; Walk, David; Quinn, Colin; Alfano, Lindsay; Sahenk, Zarife; Tasca, Giorgio; Monforte, Mauro; Sabatelli, Mario; Bisogni, Giulia; Oldfors, Anders; Rydeliu, Anna; Pal, Endre; Paradas, Carmen; Velez, Beatriz; De Bleecker, Jan L.; Farugia, Maria Elena; Longman, Cheryl; Harms, Matthew B.; Ralston, Stuart; Zanoteli, Edmar; da Silva, Andre Macedo Serafim; Sotoca, Javier; Juntas-Morales, Raul; Bevilacqua, Jorge; Balart, Mireya; Talbot, Stuart; Straub, Volker; Guglieri, Michela; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Weihl, Conrad Chris Share Save
Association Between HLA Alleles and Autoantibodies in Dermatomyositis Defined by Sarcoplasmic Expression of Myxovirus Resistance Protein A Oyama, Munenori; Ohnuki, Yuko; Uruha, Akinori; Saito, Yoshihiko; Nishimori, Yukako; Suzuki, Shingo; Inoue, Michio; Tanboon, Jantima; Okiyama, Naoko; Shiina, Takashi; Nishino, Ichizo; Suzuki, Shigeaki Share Save
Share Save
Muscle pathology of antisynthetase syndrome according to antibody subtypes Tanboon, Jantima; Inoue, Michio; Hirakawa, Shinya; Tachimori, Hisateru; Hayashi, Shinichiro; Noguchi, Satoru; Okiyama, Naoko; Fujimoto, Manabu; Suzuki, Shigeaki; Nishino, Ichizo Share Save
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4 Inoue, Michio; Noguchi, Satoru; Inoue, Yukiko U.; Iida, Aritoshi; Ogawa, Megumu; Bengoechea, Rocio; Pittman, Sara K.; Hayashi, Shinichiro; Watanabe, Kazuki; Hosoi, Yasushi; Sano, Terunori; Takao, Masaki; Oya, Yasushi; Takahashi, Yuji; Miyajima, Hiroaki; Weihl, Conrad C.; Inoue, Takayoshi; Nishino, Ichizo Share Save
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure Weihl, Conrad C.; Topf, Ana; Bengoechea, Rocio; Duff, Jennifer; Charlton, Richard; Garcia, Solange Kapetanovic; Dominguez-Gonzalez, Cristina; Alsaman, Abdulaziz; Hernandez-Lain, Aurelio; Franco, Luis Varona; Ponce Sanchez, Monica Elizabeth; Beecroft, Sarah J.; Goullee, Hayley; Daw, Jil; Bhadra, Ankan; True, Heather; Inoue, Michio; Findlay, Andrew R.; Laing, Nigel; Olive, Montse; Ravenscroft, Gianina; Straub, Volker Share Save
Deep convolutional neural network-based algorithm for muscle biopsy diagnosis Kabeya, Yoshinori; Okubo, Mariko; Yonezawa, Sho; Nakano, Hiroki; Inoue, Michio; Ogasawara, Masashi; Saito, Yoshihiko; Tanboon, Jantima; Indrawati, Luh Ari; Kumutpongpanich, Theerawat; Chen, Yen-Lin; Yoshioka, Wakako; Hayashi, Shinichiro; Iwamori, Toshiya; Takeuchi, Yusuke; Tokumasu, Reitaro; Takano, Atsushi; Matsuda, Fumihiko; Nishino, Ichizo Share Save
Share Save
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase Neto, Osorio Lopes Abath; Medne, Livija; Donkervoort, Sandra; Elena Rodriguez-Garcia, Maria; Bolduc, Veronique; Hu, Ying; Guadagnin, Eleonora; Foley, A. Reghan; Brandsema, John F.; Glanzman, Allan M.; Tennekoon, Gihan, I; Santi, Mariarita; Berger, Justin H.; Megeney, Lynn A.; Komaki, Hirofumi; Inoue, Michio; Javier Cotrina-Vinagre, Francisco; Hernandez-Lain, Aurelio; Martin-Hernandez, Elena; Williams, Linford; Borell, Sabine; Schorling, David; Lin, Kimberly; Kolokotronis, Konstantinos; Lichter-Konecki, Uta; Kirschner, Janbernd; Nishino, Ichizo; Banwell, Brenda; Martinez-Azorin, Francisco; Burgon, Patrick G.; Bonnemann, Carsten G. Share Save
A recurrent homozygous ACTN2 variant associated with core myopathy Inoue, Michio; Noguchi, Satoru; Sonehara, Kyuto; Nakamura-Shindo, Keiko; Taniguchi, Akira; Kajikawa, Hiroyuki; Nakamura, Hisayoshi; Ishikawa, Keiko; Ogawa, Megumu; Hayashi, Shinichiro; Okada, Yukinori; Kuru, Satoshi; Iida, Aritoshi; Nishino, Ichizo Share Save
Share Save
Pathologic Features of Anti-Mi-2 Dermatomyositis Tanboon, Jantima; Inoue, Michio; Hirakawa, Shinya; Tachimori, Hisateru; Hayashi, Shinichiro; Noguchi, Satoru; Suzuki, Shigeaki; Okiyama, Naoko; Fujimoto, Manabu; Nishino, Ichizo Share Save
Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families Cotta, Ana; Carvalho, Elmano; da-Cunha-Junior, Antonio Lopes; Navarro, Monica M.; Menezes, Miriam M.; Paim, Julia F.; Valicek, Jaquelin; Lima, Maria Isabel; Velloso-Filho, Roberto; Freire-Lyra, Maria Henriqueta; Takata, Reinaldo I.; Inoue, Michio; Okubo, Mariko; Iida, Aritoshi; Nishino, Ichizo Share Save
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment Laforet, Pascal; Inoue, Michio; Goillot, Evelyne; Lefeuvre, Claire; Cagin, Umut; Streichenberger, Nathalie; Leonard-Louis, Sarah; Brochier, Guy; Madelaine, Angeline; Labasse, Clemence; Hedberg-Oldfors, Carola; Krag, Thomas; Jauze, Louisa; Fabregue, Julien; Labrune, Philippe; Milisenda, Jose; Nadaj-Pakleza, Aleksandra; Sacconi, Sabrina; Mingozzi, Federico; Ronzitti, Giuseppe; Petit, Francois; Schoser, Benedikt; Oldfors, Anders; Vissing, John; Romero, Norma B.; Nishino, Ichizo; Malfatti, Edoardo Share Save
Share Save
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency Inoue, Michio; Uchino, Shumpei; Iida, Aritoshi; Noguchi, Satoru; Hayashi, Shinichiro; Takahashi, Tsutomu; Fujii, Katsunori; Komaki, Hirofumi; Takeshita, Eri; Nonaka, Ikuya; Okada, Yukinori; Yoshizawa, Takuya; Van Lommel, Leentje; Schuit, Frans; Goto, Yu-ichi; Mimaki, Masakazu; Nishino, Ichizo Share Save
Absence of sarcoplasmic myxovirus resistance protein A (MxA) expression in antisynthetase syndrome in a cohort of 194 cases Inoue, M.; Tanboon, J.; Okubo, M.; Theerawat, K.; Saito, Y.; Ogasawara, M.; Indrawati, L. A.; Uruha, A.; Okiyama, N.; Fujimoto, M.; Suzuki, S.; Nishino, I. Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}