Nishino I - Search Results

1

Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy.

Munteanu I, Kalimo H, Saraste A, Nishino I, Minassian BA. Munteanu I, et al. Among authors: nishino i. Neuromuscul Disord. 2017 Feb;27(2):185-187. doi: 10.1016/j.nmd.2016.10.007. Epub 2016 Oct 19. Neuromuscul Disord. 2017. PMID: 27916343

2

Characterization of Danon disease in a male patient and his affected mother.

Sugie K, Koori T, Yamamoto A, Ogawa M, Hirano M, Inoue K, Nonaka I, Nishino I. Sugie K, et al. Among authors: nishino i. Neuromuscul Disord. 2003 Nov;13(9):708-11. doi: 10.1016/s0960-8966(03)00105-6. Neuromuscul Disord. 2003. PMID: 14561493

3

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.

Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nonaka I, Nishino I. Tsai TC, et al. Among authors: nishino i. Neuromuscul Disord. 2005 Mar;15(3):245-52. doi: 10.1016/j.nmd.2004.12.005. Epub 2005 Jan 28. Neuromuscul Disord. 2005. PMID: 15725586

4

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.

Goto K, Nishino I, Hayashi YK. Goto K, et al. Among authors: nishino i. Neuromuscul Disord. 2006 Apr;16(4):256-61. doi: 10.1016/j.nmd.2006.01.008. Epub 2006 Mar 20. Neuromuscul Disord. 2006. PMID: 16545566

5

Autophagic vacuolar myopathy.

Nishino I. Nishino I. Semin Pediatr Neurol. 2006 Jun;13(2):90-5. doi: 10.1016/j.spen.2006.06.004. Semin Pediatr Neurol. 2006. PMID: 17027858 Review.

6

Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.

Malicdan MC, Noguchi S, Nonaka I, Saftig P, Nishino I. Malicdan MC, et al. Among authors: nishino i. Neuromuscul Disord. 2008 Jul;18(7):521-9. doi: 10.1016/j.nmd.2008.04.010. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18502640 Review.

7

Distal lipid storage myopathy due to PNPLA2 mutation.

Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Ohji S, Nomura K, Sugie H, Hayashi YK, Nishino I. Ohkuma A, et al. Among authors: nishino i. Neuromuscul Disord. 2008 Aug;18(8):671-4. doi: 10.1016/j.nmd.2008.06.382. Epub 2008 Jul 26. Neuromuscul Disord. 2008. PMID: 18657972

8

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).

Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I. Shalaby S, et al. Among authors: nishino i. Neuromuscul Disord. 2008 Dec;18(12):959-61. doi: 10.1016/j.nmd.2008.09.012. Epub 2008 Oct 25. Neuromuscul Disord. 2008. PMID: 18952429

9

Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.

Park YE, Hayashi YK, Goto K, Komaki H, Hayashi Y, Inuzuka T, Noguchi S, Nonaka I, Nishino I. Park YE, et al. Among authors: nishino i. Neuromuscul Disord. 2009 Jan;19(1):29-36. doi: 10.1016/j.nmd.2008.09.018. Epub 2008 Dec 12. Neuromuscul Disord. 2009. PMID: 19070492

10

VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.

Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA. Ramachandran N, et al. Among authors: nishino i. Cell. 2009 Apr 17;137(2):235-46. doi: 10.1016/j.cell.2009.01.054. Cell. 2009. Retraction in: Cell. 2010 Sep 17;142(6):984. doi: 10.1016/j.cell.2010.08.034 PMID: 19379691 Free article. Retracted.

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