Search Results - "Nishimori, Yukako"

Increased Signal in the Superior Cerebellar Peduncle of Patients with Progressive Supranuclear Palsy by Kataoka, Hiroshi, Nishimori, Yukako, Kiriyama, Takao, Nanaura, Hitoki, Izumi, Tesseki, Eura, Nobuyuki, Iwasa, Naoki, Sugie, Kazuma

“…Objective The provisional diagnosis of progressive supranuclear palsy (PSP) depends on a combination of typical clinical features and specific MRI findings,…”
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Malignant hyperthermia and cylindrical spirals in a 4-year-old boy by Ogasawara, Masashi, Saitoh, Shinji, Nishimori, Yukako, Hayashi, Shinichiro, Iida, Aritoshi, Noguchi, Satoru, Nishino, lchizo

“…•A rare case of malignant hyperthermia was observed in a 4-year-old child.•Muscle biopsy showed cylindrical spirals in the subsarcolemmal area.•Cylindrical…”
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Association Between HLA Alleles and Autoantibodies in Dermatomyositis Defined by Sarcoplasmic Expression of Myxovirus Resistance Protein A by Oyama, Munenori, Ohnuki, Yuko, Uruha, Akinori, Saito, Yoshihiko, Nishimori, Yukako, Suzuki, Shingo, Inoue, Michio, Tanboon, Jantima, Okiyama, Naoko, Shiina, Takashi, Nishino, Ichizo, Suzuki, Shigeaki

“…The diagnosis in the studies analyzing HLA of dermatomyositis (DM) was based on a combined clinical category of polymyositis/DM. This retrospective study…”
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Correlation of muscle ultrasound with clinical and pathological findings in idiopathic inflammatory myopathies by Yoshida, Takeshi, Yamazaki, Hiroki, Nishimori, Yukako, Takamatsu, Naoko, Fukushima, Koji, Osaki, Yusuke, Taniguchi, Yoshinori, Nozaki, Taiki, Kumon, Yoshitaka, Albayda, Jemima, Nishino, Ichizo, Izumi, Yuishin

“…Introduction/Aims In idiopathic inflammatory myopathies (IIMs), the change in muscle echogenicity and its histopathological basis are not well understood. We…”
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Pathologic Features of Anti-Ku Myositis by Oyama, Munenori, Holzer, Marie-Therese, Ohnuki, Yuko, Saito, Yoshihiko, Nishimori, Yukako, Suzuki, Shingo, Shiina, Takashi, Leonard-Louis, Sarah, Benveniste, Olivier, Schneider, Udo, Stenzel, Werner, Nishino, Ichizo, Suzuki, Shigeaki, Uruha, Akinori

“…Characteristics of myositis with anti-Ku antibodies are poorly understood. The purpose of this study was to elucidate the pathologic features of myositis…”
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Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study by Ikenaga, Chiseko, Caballero-Ávila, Marta, Nishino, Ichizo, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lopez-de Munain, Adolfo, De Bleecker, Jan, Alonso-Jiménez, Alicia, Miralles, Francesc, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Domínguez-González, Cristina, Claeys, Kristl G, de Visser, Marianne, Malfatti, Edoardo, Alfano, Lindsay N, Nair, Sruthi S, Manousakis, Georgios, Kushlaf, Hani A, Harms, Matthew B, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Quinn, Colin, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Weihl, Conrad, Diaz-Manera, Jordi, Munain, Adolfo López de, Nadaj-Pakleza, Aleksandra, Alonso-Jiménez, Alicia, Martinez-Piñeiro, Alicia, Oldfors, Anders, Kostera-Pruszczyk, Anna, Rydelius, Anna, Behin, Anthony, Laín, Aurelio Hernández, Lannes, Beatrice, Schoser, Benedikt, Kierdaszuk, Biruta, Eymard, Bruno, Cazcarra, Carla Marco, Paradas, Carmen, Hedberg-Oldfors, Carola, Nance, Christopher, Papadopoulos, Constantinos, Metay, Corinne, Zanotelli, Edmar, Pegoraro, Elena, Harrington, Elizabeth A., Gelpi, Ellen, Rivas, Eloy, Pál, Endre, Papadimas, George K, Sorarù, Gianni, Tasca, Giorgio, Cetin, Hakan, Nishino, Ichizo, François, Jean, Lin, Jie, Shin, Jin-Hong, Warman, Jodi, Palmio, Johanna, Díaz-Manera, Jordi, Pérez, Jorge Alonso, Díaz, Jorge, Vilchez, Juan J, Hadzsiev, Kinga, Claeys, Kristl G, Bello, Luca, Caballero-Ávila, Marta, Harms, Matthew B, Monforte, Mauro, James, Meredith, Guglieri, Michela, Inoue, Michio, Garcia-Angarita, Natalia, Earle, Nicholas, Rihard, Pascale, Riguzzi, Pietro, Camaño, Pilar, Villar-Quiles, Rocío Nur, Alvarez, Rodrigo, Krause, Sabine, Souvannanorath, Sarah, Nair, Sruthi S, Peric, Stojan, Evangelista, Teresinha, Lloyd, Thomas E, Williams, Timothy, Kimonis, Virginia, Straub, Volker, Ridder, Willem de, Saito, Yoshihiko, Park, Young-Eun, Sahenk, Zarife

“…BackgroundValosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget’s disease of bone (PBD) and frontotemporal…”
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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis by Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., Díaz-Manera, Jordi

“…Background The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron…”
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Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis by Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., Díaz-Manera, Jordi

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TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis by Nishimori, Yukako, Iida, Aritoshi, Ogasawara, Masashi, Okubo, Mariko, Yonenobu, Yuki, Kinoshita, Makoto, Sugie, Kazuma, Noguchi, Satoru, Nishino, Ichizo

“…The main objective of this case report is to identify a gene associated with a Japanese family with autosomal dominant arthrogryposis. We performed…”
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Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy by Schiava, Marianela, Ikenaga, Chiseko, Topf, Ana, Caballero-Ávila, 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, Macedo Serafim da Silva, Andre, Sotoca, Javier, Juntas-Morales, Raul, Bevilacqua, Jorge, Balart, Mireya, Talbot, Stuart, Straub, Volker, Guglieri, Michela, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Weihl, Conrad Chris

“…Pathogenic variants in the valosin-containing protein ( ) gene cause a phenotypically heterogeneous disorder that includes myopathy, motor neuron disease,…”
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