Muraoka T, Murao K, Imachi H, Kikuchi F, Yoshimoto T, Iwama H, Hosokawa H, Nishino I, Fukuda T, Sugie H, Adachi K, Nanba E, Ishida T.
Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence. Intern Med. 2011;50(24):2987-2991. Epub 2011 Dec 15.
Mitsuhashi S, Nishino I. Phospholipid synthetic defect and mitophagy in muscle disease. Autophagy. 7(24): 1559-1561, Dec, 2011.
Mizoi Y, Yamamoto T, Minami N, Ohkuma A,Nonaka I, Nishino I, Tamura N, Amano T, Araki N.
Oculopharyngeal muscular dystrophy associated with dementia. Intern Med. 2011 Oct;50(20): 2409-2412. Epub 2011 Oct 15.
Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T.
Eponym: Barth syndrome. Eur J Pediatr. 2011 Nov;170(11): 1365-1367. Epub 2011 Sep 23.
Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T.
Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium. Eur J Pediatr. 2011 Nov;170(11): 1481-1484. Epub 2011 Sep 20.
Koebis M, Ohsawa N, Kino Y, Sasagawa N, Nishino I, Ishiura S.
Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1. Genes Cells. 2011 Sep; 6(9): 961-972. Epub 2011 Jul 28.
Suzuki S, Ohta M, Shimizu Y, Hayashi YK, Nishino I. Anti-signal recognition particle myopathy in the first decade of life.
Pediatr Neurol. 2011 Aug;45(2):114-116.
Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi
YK, Noguchi S, Sher RB, Nakagawa Y, Manfredi G, Goto YI, Cox GA, Nishino I .
Muscle choline kinase beta defect causes mitochondrial dysfunction and
increased mitophagy.
Hum Mol Genet. 2011 Oct;20(19): 3841-3851. Epub 2011 Jul 12.
Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I.
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet. 2011 Jun 10;88(6):845-851.
Komaki H, Hayashi YK, Tsuburaya R, Sugie K, Kato M, Nagai T, Imataka G, Suzuki S, Saitoh S, Asahina N, Honke K, Higuchi Y, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nonaka I, Nishino I.
Inflammatory changes in infantile-onset LMNA-associated myopathy. Neuromuscul Disord. 2011 Aug;21(8): 563-568. Epub 2011 May 31.
Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y,Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, de Munain AL, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N.
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med. 2011 Jun; 17(6): 720-725 Epub 2011 May 29.
Ohsawa N, Koebis M, Suo S, Nishino I, Ishiura S.
Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy. Biochem Biophys Res Commun. 2011 May 27;409(1):64-69. Epub 2011 Apr 28.
Tsuburaya R, Suzuki T, Saiki K, Nonaka I, Sugita H, Hayashi YK,
Nishino I.
Lobulated fibers in a patient with 46-year history of limb-girdle muscle
weakness. Neuropathology. 2011 Aug;31(4): 455-457. Epub 2011 Apr 26.
Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, Davignon L,
Nishino I, Mandel JL, Laporte J.
Increased expression of wild-type or a centronuclear myopathy mutant of
dynamin 2 in skeletal muscle of adult mice leads to structural defects
and muscle weakness. Am J Pathol. 2011 May;178(5):2224-2235.
Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K,
Mitsuhashi S, Tominaga K, Hayashi YK, Nowak KJ, Laing NG, Nonaka I,
Nishino I.
Extramuscular manifestations in children with severe congenital myopathy
due to ACTA1 gene mutations. Neuromuscul Disord. 2011 Jul;21(7): 489-493. Epub 2011 Apr 21.
Kawashima H, Ishii C, Yamanaka G, Ioi H, Nishimata S, Kashiwagi Y,
Takekuma K, Miyajima T, Hoshika A, Nishino I, Nonaka I.
Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary
arrest. Pediatr Int. 2011 Apr;53(2):159-161.
Kubota T, Roca X, Kimura T, Kokunai Y, Nishino I, Sakoda S, Krainer
AR, Takahashi MP.
A mutation in a rare type of intron in a sodium-channel gene results in
aberrant splicing and causes myotonia. Hum Mutat. 2011 Jul;32(7): 773-782. Epub 2011 Apr 28.
Maki T, Matsumoto R, Kohara N, Kondo T, Son I, Mezaki T, Nishino I,
Ikeda A, Takahashi R.
Rippling is not always electrically silent in rippling muscle disease. Muscle Nerve. 2011 Apr;43(4):601-605.
Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I,
Hayashi YK.
TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy. Ann Neurol. 2011 Jun;69(6): 1005-1013. Epub 2011 Mar 9.
Yoda M, Tanabe H, Nishino I, Suma H.
Left ventriculoplasty for dilated cardiomyopathy in Fukuyama-type
muscular dystrophy. Eur J Cardiothorac Surg.2011 Aug;40(2): 514-516. Epub 2011 Jan 26.
Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U,
Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V,
Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J.
Defects in amphiphysin 2 (BIN1) and triads in several forms of
centronuclear myopathies. Acta Neuropathol. 2011 Feb;121(2):253-266. Epub 2010 Oct 7.