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Items: 1 to 50 of 676

1.

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I.

Ann Neurol. 2019 Aug;86(2):193-202. doi: 10.1002/ana.25517. Epub 2019 Jul 2.

PMID:
31155743
2.

Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement.

Ge L, Fu X, Zhang W, Wang D, Wang Z, Yuan Y, Nonaka I, Xiong H.

Neuromuscul Disord. 2019 May;29(5):350-357. doi: 10.1016/j.nmd.2019.03.007. Epub 2019 Mar 14.

PMID:
31053406
3.

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.

Nishikawa A, Iida A, Hayashi S, Okubo M, Oya Y, Yamanaka G, Takahashi I, Nonaka I, Noguchi S, Nishino I.

Mol Genet Genomic Med. 2019 May;7(5):e621. doi: 10.1002/mgg3.621. Epub 2019 Mar 18.

4.

A Nationwide Survey on Danon Disease in Japan.

Sugie K, Komaki H, Eura N, Shiota T, Onoue K, Tsukaguchi H, Minami N, Ogawa M, Kiriyama T, Kataoka H, Saito Y, Nonaka I, Nishino I.

Int J Mol Sci. 2018 Nov 8;19(11). pii: E3507. doi: 10.3390/ijms19113507.

5.

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

Ishiyama A, Iida A, Hayashi S, Komaki H, Sasaki M, Nonaka I, Noguchi S, Nishino I.

Hum Genome Var. 2018 Jul 20;5:19. doi: 10.1038/s41439-018-0018-6. eCollection 2018.

6.

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy.

Inoue M, Iida A, Hayashi S, Mori-Yoshimura M, Nagaoka A, Yoshimura S, Shiraishi H, Tsujino A, Takahashi Y, Nonaka I, Hayashi YK, Noguchi S, Nishino I.

Hum Genome Var. 2018 May 30;5:9. doi: 10.1038/s41439-018-0009-7. eCollection 2018.

7.

Enhanced immunity in intradermal vaccination by novel hollow microneedles.

Ogai N, Nonaka I, Toda Y, Ono T, Minegishi S, Inou A, Hachiya M, Fukamizu H.

Skin Res Technol. 2018 Nov;24(4):630-635. doi: 10.1111/srt.12576. Epub 2018 Apr 29.

PMID:
29707828
8.

Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy.

Harada H, Hayashi T, Nishi H, Kusaba K, Koga Y, Koga Y, Nonaka I, Kimura A.

J Hum Genet. 2018 Feb;63(2):249-254. doi: 10.1038/s10038-017-0383-x. Epub 2017 Nov 22.

PMID:
29167554
9.

Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome.

Ogasawara M, Ishiyama A, Sugiura A, Segawa K, Nonaka I, Takeshita E, Shimizu-Motohashi Y, Komaki H, Sasaki M.

Brain Dev. 2018 Apr;40(4):339-342. doi: 10.1016/j.braindev.2017.11.001. Epub 2017 Nov 20.

PMID:
29157800
10.

IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.

Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Sato N, Nonaka I, Goto YI, Nishino I.

Neurol Genet. 2017 Sep 8;3(5):e184. doi: 10.1212/NXG.0000000000000184. eCollection 2017 Oct.

11.

Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.

Cho A, Christine M, Malicdan V, Miyakawa M, Nonaka I, Nishino I, Noguchi S.

Hum Mol Genet. 2017 Aug 15;26(16):3081-3093. doi: 10.1093/hmg/ddx192.

12.

A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties.

Kadoya M, Ogata K, Suzuki M, Honma Y, Momma K, Yatabe K, Tamura T, Kaida K, Miyata N, Nishino I, Nonaka I, Kawai M.

Neuromuscul Disord. 2017 May;27(5):477-480. doi: 10.1016/j.nmd.2017.01.012. Epub 2017 Jan 18.

PMID:
28214267
13.

Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy.

Noguchi S, Ogawa M, Malicdan MC, Nonaka I, Nishino I.

EBioMedicine. 2017 Feb;15:193-202. doi: 10.1016/j.ebiom.2016.12.011. Epub 2016 Dec 23.

14.

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N.

Am J Hum Genet. 2017 Jan 5;100(1):169-178. doi: 10.1016/j.ajhg.2016.11.017. Epub 2016 Dec 22.

15.

Changes in mitochondrial homeostasis and redox status in astronauts following long stays in space.

Indo HP, Majima HJ, Terada M, Suenaga S, Tomita K, Yamada S, Higashibata A, Ishioka N, Kanekura T, Nonaka I, Hawkins CL, Davies MJ, Clair DK, Mukai C.

Sci Rep. 2016 Dec 16;6:39015. doi: 10.1038/srep39015.

16.

Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome.

Termglinchan T, Hisamatsu S, Ohmori J, Suzumura H, Sumitomo N, Imataka G, Arisaka O, Murakami N, Minami N, Akihiko I, Sasaki M, Goto Y, Noguchi S, Nonaka I, Mitsuhashi S, Nishino I.

Neurol Genet. 2016 Sep 14;2(5):e95. doi: 10.1212/NXG.0000000000000095. eCollection 2016 Oct.

17.

Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.

Mori-Yoshimura M, Segawa K, Minami N, Oya Y, Komaki H, Nonaka I, Nishino I, Murata M.

Muscle Nerve. 2017 Apr;55(4):465-469. doi: 10.1002/mus.25369. Epub 2016 Dec 30.

18.

Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation.

Takayama K, Mitsuhashi S, Shin JY, Tanaka R, Fujii T, Tsuburaya R, Mukaida S, Noguchi S, Nonaka I, Nishino I.

Neuromuscul Disord. 2016 Sep;26(9):604-9. doi: 10.1016/j.nmd.2016.06.005. Epub 2016 Jun 10.

PMID:
27460346
19.

Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan.

Goto M, Komaki H, Takeshita E, Abe Y, Ishiyama A, Sugai K, Sasaki M, Goto Y, Nonaka I.

Brain Dev. 2016 Oct;38(9):785-91. doi: 10.1016/j.braindev.2016.04.001. Epub 2016 Apr 21.

PMID:
27112384
20.

Milder forms of muscular dystrophy associated with POMGNT2 mutations.

Endo Y, Dong M, Noguchi S, Ogawa M, Hayashi YK, Kuru S, Sugiyama K, Nagai S, Ozasa S, Nonaka I, Nishino I.

Neurol Genet. 2015 Dec 10;1(4):e33. doi: 10.1212/NXG.0000000000000033. eCollection 2015 Dec.

21.

Hepatitis C virus infection in inclusion body myositis: A case-control study.

Uruha A, Noguchi S, Hayashi YK, Tsuburaya RS, Yonekawa T, Nonaka I, Nishino I.

Neurology. 2016 Jan 19;86(3):211-7. doi: 10.1212/WNL.0000000000002291. Epub 2015 Dec 18.

PMID:
26683644
22.

Respiratory and cardiac function in japanese patients with dysferlinopathy.

Nishikawa A, Mori-Yoshimura M, Segawa K, Hayashi YK, Takahashi T, Saito Y, Nonaka I, Krahn M, Levy N, Shimizu J, Mitsui J, Kimura E, Goto J, Yonemoto N, Aoki M, Nishino I, Oya Y, Murata M.

Muscle Nerve. 2016 Mar;53(3):394-401. doi: 10.1002/mus.24741. Epub 2016 Jan 27.

PMID:
26088049
23.

DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan.

Dong M, Noguchi S, Endo Y, Hayashi YK, Yoshida S, Nonaka I, Nishino I.

Neurology. 2015 Jan 20;84(3):273-9. doi: 10.1212/WNL.0000000000001162. Epub 2014 Dec 12.

PMID:
25503980
24.

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I.

J Neurol Neurosurg Psychiatry. 2015 May;86(5):483-9. doi: 10.1136/jnnp-2014-309009. Epub 2014 Sep 24.

PMID:
25253871
25.

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.

Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I.

Hum Mol Genet. 2015 Feb 1;24(3):637-48. doi: 10.1093/hmg/ddu477. Epub 2014 Sep 16.

PMID:
25227914
26.

Dietary phosphorus overload aggravates the phenotype of the dystrophin-deficient mdx mouse.

Wada E, Yoshida M, Kojima Y, Nonaka I, Ohashi K, Nagata Y, Shiozuka M, Date M, Higashi T, Nishino I, Matsuda R.

Am J Pathol. 2014 Nov;184(11):3094-104. doi: 10.1016/j.ajpath.2014.07.007. Epub 2014 Aug 28.

PMID:
25174878
27.

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.

Yonekawa T, Malicdan MC, Cho A, Hayashi YK, Nonaka I, Mine T, Yamamoto T, Nishino I, Noguchi S.

Brain. 2014 Oct;137(Pt 10):2670-9. doi: 10.1093/brain/awu210. Epub 2014 Jul 24.

28.

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

Goto M, Okada M, Komaki H, Sugai K, Sasaki M, Noguchi S, Nonaka I, Nishino I, Hayashi YK.

Orphanet J Rare Dis. 2014 Apr 23;9:58. doi: 10.1186/1750-1172-9-58.

29.

[Therapeutic strategies for muscular dystrophy: F based on the international guideline].

Matsuo M, Nonaka I.

No To Hattatsu. 2014 Mar;46(2):87-8. Japanese. No abstract available.

PMID:
24738181
30.

Congenital fiber type disproportion myopathy caused by LMNA mutations.

Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK.

J Neurol Sci. 2014 May 15;340(1-2):94-8. doi: 10.1016/j.jns.2014.02.036. Epub 2014 Mar 5.

PMID:
24642510
31.

[Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].

Sudo A, Hayashi Y, Sano H, Kawamura N, Nishino I, Nonaka I.

No To Hattatsu. 2013 Nov;45(6):452-6. Japanese.

PMID:
24313005
32.

Effects of selenium supplementation on plasma progesterone concentrations in pregnant heifers.

Kamada H, Nonaka I, Takenouchi N, Amari M.

Anim Sci J. 2014 Mar;85(3):241-6. doi: 10.1111/asj.12139. Epub 2013 Nov 10.

PMID:
24206213
33.

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

Cho A, Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I.

J Neurol Neurosurg Psychiatry. 2014 Aug;85(8):914-7. doi: 10.1136/jnnp-2013-305587. Epub 2013 Sep 11.

PMID:
24027297
34.

Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.

Kurashige T, Takahashi T, Yamazaki Y, Nagano Y, Kondo K, Nakamura T, Yamawaki T, Tsuburaya R, Hayashi YK, Nonaka I, Nishino I, Matsumoto M.

Neuromuscul Disord. 2013 Nov;23(11):911-6. doi: 10.1016/j.nmd.2013.06.003. Epub 2013 Jul 11.

35.

An improved dry ash procedure for the detection of titanium dioxide in cattle feces.

Ohmori H, Nonaka I, Ohtani F, Tajima K, Kawashima T, Kaji Y, Terada F.

Anim Sci J. 2013 Nov;84(11):726-31. doi: 10.1111/asj.12068. Epub 2013 Apr 18. Erratum in: Anim Sci J. 2014 Mar;85(3):347.

PMID:
23607630
36.

Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.

Yonekawa T, Komaki H, Okada M, Hayashi YK, Nonaka I, Sugai K, Sasaki M, Nishino I.

J Neurol Neurosurg Psychiatry. 2013 Sep;84(9):982-8. doi: 10.1136/jnnp-2012-304710. Epub 2013 Apr 9.

PMID:
23572247
37.

Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.

Murakami N, Hayashi YK, Oto Y, Shiraishi M, Itabashi H, Kudo K, Nishino I, Nonaka I, Nagai T.

Neuromuscul Disord. 2013 May;23(5):441-4. doi: 10.1016/j.nmd.2013.02.005. Epub 2013 Mar 13.

PMID:
23489663
38.

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

Sato T, Hayashi YK, Oya Y, Kondo T, Sugie K, Kaneda D, Houzen H, Yabe I, Sasaki H, Noguchi S, Nonaka I, Osawa M, Nishino I.

Neuromuscul Disord. 2013 Mar;23(3):269-76. doi: 10.1016/j.nmd.2012.12.010. Epub 2013 Feb 6.

PMID:
23394708
39.

Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

Momma K, Noguchi S, Malicdan MC, Hayashi YK, Minami N, Kamakura K, Nonaka I, Nishino I.

PLoS One. 2012;7(12):e52002. doi: 10.1371/journal.pone.0052002. Epub 2012 Dec 14.

40.

[Muscle fiber atrophy].

Nonaka I.

Rinsho Shinkeigaku. 2012;52(11):1315-7. Japanese.

PMID:
23196603
41.

Intranuclear rods myopathy with autonomic dysfunction.

Chou PC, Liang WC, Nonaka I, Mitsuhashi S, Nishino I, Jong YJ.

Brain Dev. 2013 Aug;35(7):686-9. doi: 10.1016/j.braindev.2012.09.011. Epub 2012 Oct 25.

PMID:
23102861
42.

14-3-3 proteins, particularly of the epsilon isoform, are detectable in cerebrospinal fluids of cerebellar diseases in children.

Fujii K, Uchikawa H, Tanabe Y, Omata T, Nonaka I, Kohno Y.

Brain Dev. 2013 Jun;35(6):555-60. doi: 10.1016/j.braindev.2012.09.007. Epub 2012 Oct 15.

PMID:
23078967
43.

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

Mori-Yoshimura M, Okuma A, Oya Y, Fujimura-Kiyono C, Nakajima H, Matsuura K, Takemura A, Malicdan MC, Hayashi YK, Nonaka I, Murata M, Nishino I.

Clin Neurol Neurosurg. 2012 Jul;114(6):678-83. doi: 10.1016/j.clineuro.2011.10.040. Epub 2012 May 19.

PMID:
22613877
44.

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.

Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K.

Am J Med Genet A. 2012 Apr;158A(4):772-8. doi: 10.1002/ajmg.a.35243. Epub 2012 Mar 9.

PMID:
22407809
45.

In vivo characterization of mutant myotilins.

Keduka E, Hayashi YK, Shalaby S, Mitsuhashi H, Noguchi S, Nonaka I, Nishino I.

Am J Pathol. 2012 Apr;180(4):1570-80. doi: 10.1016/j.ajpath.2011.12.040. Epub 2012 Feb 18.

PMID:
22349301
46.

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.

Hattori A, Komaki H, Kawatani M, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nonaka I, Nishino I.

Neuromuscul Disord. 2012 Feb;22(2):149-51. doi: 10.1016/j.nmd.2011.08.009. Epub 2012 Jan 11.

PMID:
22240398
47.

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.

Tsuburaya RS, Monma K, Oya Y, Nakayama T, Fukuda T, Sugie H, Hayashi YK, Nonaka I, Nishino I.

Neuromuscul Disord. 2012 May;22(5):389-93. doi: 10.1016/j.nmd.2011.11.003. Epub 2011 Dec 21.

PMID:
22196155
48.

Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy.

Malicdan MC, Noguchi S, Tokutomi T, Goto Y, Nonaka I, Hayashi YK, Nishino I.

J Biol Chem. 2012 Jan 20;287(4):2689-705. doi: 10.1074/jbc.M111.297051. Epub 2011 Dec 8.

49.

Responses in digestion, rumen fermentation and microbial populations to inhibition of methane formation by a halogenated methane analogue.

Mitsumori M, Shinkai T, Takenaka A, Enishi O, Higuchi K, Kobayashi Y, Nonaka I, Asanuma N, Denman SE, McSweeney CS.

Br J Nutr. 2012 Aug;108(3):482-91. doi: 10.1017/S0007114511005794. Epub 2011 Nov 8.

PMID:
22059589
50.

Characterization of the Asian myopathy patients with VCP mutations.

Shi Z, Hayashi YK, Mitsuhashi S, Goto K, Kaneda D, Choi YC, Toyoda C, Hieda S, Kamiyama T, Sato H, Wada M, Noguchi S, Nonaka I, Nishino I.

Eur J Neurol. 2012 Mar;19(3):501-9. doi: 10.1111/j.1468-1331.2011.03575.x. Epub 2011 Oct 31.

PMID:
22040362

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