Komaki H - Search Results

1

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.

Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG. Lopes Abath Neto O, et al. Among authors: komaki h. Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275. Brain. 2021. PMID: 34581780 Free PMC article.

2

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.

Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I. Arai A, et al. Among authors: komaki h. Neuromuscul Disord. 2009 Jul;19(7):485-8. doi: 10.1016/j.nmd.2009.06.366. Epub 2009 Jun 23. Neuromuscul Disord. 2009. PMID: 19553121

3

Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Ishii K, Komaki H, Ohkuma A, Nishino I, Nonaka I, Sasaki M. Ishii K, et al. Among authors: komaki h. Brain Dev. 2010 Sep;32(8):669-72. doi: 10.1016/j.braindev.2009.08.008. Epub 2009 Sep 26. Brain Dev. 2010. PMID: 19783111

4

Reversible infantile respiratory chain deficiency: a clinical and molecular study.

Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, Goto Y. Mimaki M, et al. Among authors: komaki h. Ann Neurol. 2010 Dec;68(6):845-54. doi: 10.1002/ana.22111. Ann Neurol. 2010. PMID: 21194154

5

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.

Sukigara S, Liang WC, Komaki H, Fukuda T, Miyamoto T, Saito T, Saito Y, Nakagawa E, Sugai K, Hayashi YK, Sugie H, Sasaki M, Nishino I. Sukigara S, et al. Among authors: komaki h. Neuromuscul Disord. 2012 Feb;22(2):162-5. doi: 10.1016/j.nmd.2011.08.008. Epub 2011 Sep 29. Neuromuscul Disord. 2012. PMID: 21958591

6

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. Hattori A, et al. Among authors: komaki h. Neuromuscul Disord. 2012 Feb;22(2):149-51. doi: 10.1016/j.nmd.2011.08.009. Epub 2012 Jan 11. Neuromuscul Disord. 2012. PMID: 22240398

7

A pediatric patient with myopathy associated with antibodies to a signal recognition particle.

Kawabata T, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nishino I, Momomura M, Kizawa T, Imagawa T, Yokota S. Kawabata T, et al. Among authors: komaki h. Brain Dev. 2012 Nov;34(10):877-80. doi: 10.1016/j.braindev.2012.02.009. Epub 2012 Mar 19. Brain Dev. 2012. PMID: 22436377

8

Unusual exocrine complication of pancreatitis in mitochondrial disease.

Ishiyama A, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Itagaki Y, Matsuzaki K, Nakura M, Nishino I, Goto Y, Sasaki M. Ishiyama A, et al. Among authors: komaki h. Brain Dev. 2013 Aug;35(7):654-9. doi: 10.1016/j.braindev.2012.10.015. Epub 2012 Nov 22. Brain Dev. 2013. PMID: 23182449

9

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. Yonekawa T, et al. Among authors: komaki h. J Neurol Neurosurg Psychiatry. 2013 Sep;84(9):982-8. doi: 10.1136/jnnp-2012-304710. Epub 2013 Apr 9. J Neurol Neurosurg Psychiatry. 2013. PMID: 23572247

10

MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene.

Goto M, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nishino I, Goto Y. Goto M, et al. Among authors: komaki h. Brain Dev. 2014 Feb;36(2):180-2. doi: 10.1016/j.braindev.2013.03.001. Epub 2013 Apr 10. Brain Dev. 2014. PMID: 23582502

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