OpenURL Connection Search

Select item for more details and to access through your institution.

Effects of propofol on calcium homeostasis in human skeletal muscle.
Published in:
2009
By:
- Migita T;
- Mukaida K;
- Hamada H;
- Kobayashi M;
- Nishino I;
- Yuge O;
- Kawamoto M;
- Migita, T;
- Mukaida, K;
- Hamada, H;
- Kobayashi, M;
- Nishino, I;
- Yuge, O;
- Kawamoto, M
Publication type:
journal article
Severe lactic acidosis and neonatal death in Pearson syndrome.
Published in:
Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 43, doi. 10.1023/A:1005305422544
By:
- Muraki, K.;
- Goto, Y.;
- Nishino, I.;
- Hayashidani, M.;
- Takeuchi, S.;
- Horai, S.;
- Sakura, N.;
- Ueda, K.
Publication type:
Article
<italic>NDUFAF3</italic> variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.
Published in:
Clinical Genetics, 2018, v. 93, n. 5, p. 1103, doi. 10.1111/cge.13215
By:
- Komaki, H.;
- Sasaki, M.;
- Ishiyama, A.;
- Nishino, I.;
- Makioka, N.;
- Ogata, T.;
- Suzuki, E.;
- Muramatsu, K.;
- Sakai, C.;
- Matsushima, Y.;
- Goto, Y.‐I.;
- Uchino, S.;
- Mimaki, M.
Publication type:
Article
DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.
Published in:
Clinical Genetics, 2016, v. 90, n. 5, p. 472, doi. 10.1111/cge.12805
By:
- Zaha, K.;
- Matsumoto, H.;
- Itoh, M.;
- Saitsu, H.;
- Kato, K.;
- Kato, M.;
- Ogata, S.;
- Murayama, K.;
- Kishita, Y.;
- Mizuno, Y.;
- Kohda, M.;
- Nishino, I.;
- Ohtake, A.;
- Okazaki, Y.;
- Matsumoto, N.;
- Nonoyama, S.
Publication type:
Article
Beevor's sign: a potential clinical marker for GNE myopathy.
Published in:
European Journal of Neurology, 2016, v. 23, n. 8, p. e46, doi. 10.1111/ene.13041
By:
- Preethish ‐ Kumar, V.;
- Pogoryelova, O.;
- Polavarapu, K.;
- Gayathri, N.;
- Seena, V.;
- Hudson, J.;
- Nishino, I.;
- Prasad, C.;
- Lochmüller, H.;
- Nalini, A.
Publication type:
Article
Characterization of the Asian myopathy patients with VCP mutations.
Published in:
European Journal of Neurology, 2012, v. 19, n. 3, p. 501, doi. 10.1111/j.1468-1331.2011.03575.x
By:
- Shi, Z.;
- Hayashi, Y. K.;
- Mitsuhashi, S.;
- Goto, K.;
- Kaneda, D.;
- Choi, Y.-C.;
- Toyoda, C.;
- Hieda, S.;
- Kamiyama, T.;
- Sato, H.;
- Wada, M.;
- Noguchi, S.;
- Nonaka, I.;
- Nishino, I.
Publication type:
Article
A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene.
Published in:
European Journal of Neurology, 2007, v. 14, n. 7, p. 819, doi. 10.1111/j.1468-1331.2007.01808.x
By:
- Matsubara, E.;
- Tsuchiya, A.;
- Minami, N.;
- Nishino, I.;
- Pappolla, M. A.;
- Shoji, M.;
- Abe, K.
Publication type:
Article
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
Published in:
European Journal of Neurology, 2004, v. 11, n. 10, p. 657, doi. 10.1111/j.1468-1331.2004.00755.x
By:
- Kawabe, K.;
- Goto, K.;
- Nishino, I.;
- Angelini, C.;
- Hayashi, Y. K.
Publication type:
Article
Effects of propofol on calcium homeostasis in human skeletal muscle.
Published in:
Anaesthesia & Intensive Care, 2009, v. 37, n. 3, p. 415
By:
- MIGITA, T.;
- MUKAIDA, K.;
- HAMADA, H.;
- KOBAYASHI, M.;
- NISHINO, I.;
- YUGE, O.;
- KAWAMOTO, M.
Publication type:
Article
Propofol-induced changes in myoplasmic calcium concentrations in cultured human skeletal muscles from RYR1 mutation carriers.
Published in:
2007
By:
- Migita, T.;
- Mukaida, K.;
- Kawamoto, M.;
- Kobayashi, M.;
- Nishino, I.;
- Yuge, O.;
- Yuget, O
Publication type:
journal article
Confirmation of the efficacy of vitamin B(6) supplementation for McArdle disease by follow-up muscle biopsy.
Published in:
2012
By:
- Sato S;
- Ohi T;
- Nishino I;
- Sugie H
Publication type:
Journal Article
A new form of muscular dystrophy with mitochondrial structural abnormalities.
Published in:
2001
By:
- Ikemoto-Tsuchiya, Kaori;
- Nishino, Ichizo;
- Kawai, Motoharu;
- Morimatsu, Mitsunori;
- Nonaka, Ikuya;
- Ikemoto-Tsuchiya, K;
- Nishino, I;
- Kawai, M;
- Morimatsu, M;
- Nonaka, I
Publication type:
Case Study
Mitochondrial abnormalities in selenium-deficient myopathy.
Published in:
1998
By:
- Osaki, Yasushi;
- Nishino, Ichizo;
- Murakami, Nobuyuki;
- Matsubayashi, Kozo;
- Tsuda, Keisuke;
- Yokoyama, Yu-Ichi;
- Morita, Masanori;
- Onishi, Saburo;
- Goto, Yu-Ichi;
- Nonaka, Ikuya;
- Osaki, Y;
- Nishino, I;
- Murakami, N;
- Matsubayashi, K;
- Tsuda, K;
- Yokoyama, Y I;
- Morita, M;
- Onishi, S;
- Goto, Y I;
- Nonaka, I
Publication type:
journal article
A new congenital muscular dystrophy with mitochondrial structural abnormalities.
Published in:
1998
By:
- Nishino, Ichizo;
- Kobayashi, Osamu;
- Goto, Yu-ichi;
- Kurihara, Mana;
- Kumagai, Komei;
- Fujita, Takehisa;
- Hashimoto, Kiyoshi;
- Horai, Satoshi;
- Nonaka, Ikuya;
- Nishino, I;
- Kobayashi, O;
- Goto, Y;
- Kurihara, M;
- Kumagai, K;
- Fujita, T;
- Hashimoto, K;
- Horai, S;
- Nonaka, I
Publication type:
journal article
Myositis with sarcoplasmic inclusions in Nakajo–Nishimura syndrome: a genetic inflammatory myopathy.
Published in:
Neuropathology & Applied Neurobiology, 2020, v. 46, n. 6, p. 579, doi. 10.1111/nan.12614
By:
- Ayaki, T.;
- Murata, K.;
- Kanazawa, N.;
- Uruha, A.;
- Ohmura, K.;
- Sugie, K.;
- Kasagi, S.;
- Li, F.;
- Mori, M.;
- Nakajima, R.;
- Sasai, T.;
- Nishino, I.;
- Ueno, S.;
- Urushitani, M.;
- Furukawa, F.;
- Ito, H.;
- Takahashi, R.
Publication type:
Article
Absence of sarcoplasmic myxovirus resistance protein A (MxA) expression in antisynthetase syndrome in a cohort of 194 cases.
Published in:
Neuropathology & Applied Neurobiology, 2019, v. 45, n. 5, p. 523, doi. 10.1111/nan.12551
By:
- 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.
Publication type:
Article
Diagnostic potential of sarcoplasmic myxovirus resistance protein A expression in subsets of dermatomyositis.
Published in:
Neuropathology & Applied Neurobiology, 2019, v. 45, n. 5, p. 513, doi. 10.1111/nan.12519
By:
- Uruha, A.;
- Allenbach, Y.;
- Charuel, J.‐L.;
- Musset, L.;
- Aussy, A.;
- Boyer, O.;
- Mariampillai, K.;
- Landon‐Cardinal, O.;
- Rasmussen, C.;
- Bolko, L.;
- Maisonobe, T.;
- Leonard‐Louis, S.;
- Suzuki, S.;
- Nishino, I.;
- Stenzel, W.;
- Benveniste, O.
Publication type:
Article
Juvenile autophagic vacuolar myopathy - a new entity or variant?
Published in:
Neuropathology & Applied Neurobiology, 2013, v. 39, n. 4, p. 449, doi. 10.1111/nan.12018
By:
- Stenzel, W.;
- Nishino, I.;
- Moers, A.;
- Kadry, M. A.;
- Glaeser, D.;
- Heppner, F. L.;
- Goebel, H.‐H.
Publication type:
Article
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.
Published in:
2006
By:
- Murakami T;
- Hayashi YK;
- Noguchi S;
- Ogawa M;
- Nonaka I;
- Tanabe Y;
- Ogino M;
- Takada F;
- Eriguchi M;
- Kotooka N;
- Campbell KP;
- Osawa M;
- Nishino I
Publication type:
Journal Article
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
Published in:
European Journal of Neurology, 2018, v. 25, n. 1, p. 154, doi. 10.1111/ene.13478
By:
- Cortese, A.;
- Laurà, M.;
- Casali, C.;
- Nishino, I.;
- Hayashi, Y. K.;
- Magri, S.;
- Taroni, F.;
- Stuani, C.;
- Saveri, P.;
- Moggio, M.;
- Ripolone, M.;
- Prelle, A.;
- Pisciotta, C.;
- Sagnelli, A.;
- Pichiecchio, A.;
- Reilly, M. M.;
- Buratti, E.;
- Pareyson, D.
Publication type:
Article
Myotubular/centronuclear myopathy and central core disease.
Published in:
2008
By:
- Fujimura-Kiyono C;
- Racz GZ;
- Nishino I;
- Fujimura-Kiyono, Chieko;
- Racz, Gabor Z;
- Nishino, Ichizo
Publication type:
journal article
Relationships of mortality with the fine and coarse fractions of long-term ambient PM<sub>10</sub> concentrations in nonsmokers.
Published in:
Journal of Exposure Analysis & Environmental Epidemiology, 2000, v. 10, n. 5, p. 427, doi. 10.1038/sj.jea.7500095
By:
- MCDONNELL, WILLIAM F;
- NISHINO-ISHIKAWA, N A O M I;
- PETERSEN, FLOYD F;
- CHEN, LIE H O N G;
- ABBEY, DAVID E
Publication type:
Article
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.
Published in:
1999
By:
- Nygaard, Torbjoern G.;
- Raymond, Deborah;
- Chen, Caiping;
- Nishino, Ichizo;
- Greene, Paul E.;
- Jennings, Danna;
- Heiman, Gary A.;
- Klein, Christine;
- Saunders-Pullman, Rachel J.;
- Kramer, Patricia;
- Ozelius, Laurie J.;
- Bressman, Susan B.;
- Nygaard, T G;
- Raymond, D;
- Chen, C;
- Nishino, I;
- Greene, P E;
- Jennings, D;
- Heiman, G A;
- Klein, C
Publication type:
journal article
Sweat retention anhidrosis associated with tubular aggregate myopathy.
Published in:
British Journal of Dermatology, 2019, v. 181, n. 5, p. 1104, doi. 10.1111/bjd.18175
By:
- Ishitsuka, Y.;
- Inoue, S.;
- Furuta, J.;
- Koguchi‐Yoshioka, H.;
- Nakamura, Y.;
- Watanabe, R.;
- Okiyama, N.;
- Fujisawa, Y.;
- Enokizono, T.;
- Fukushima, H.;
- Suzuki, H.;
- Nishino, I.;
- Kosaki, K.;
- Fujimoto, M.
Publication type:
Article
The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
Published in:
1996
By:
- Nishino, Ichizo;
- Komatsu, Mikio;
- Kodama, Soichi;
- Horai, Satoshi;
- Nonaka, Ikuya;
- Goto, Yu-Ichi;
- Nishino, I;
- Komatsu, M;
- Kodama, S;
- Horai, S;
- Nonaka, I;
- Goto, Y
Publication type:
journal article

Found: 25