Komaki H - Search Results

1

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.

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. Saito Y, et al. Among authors: komaki h. Neuromuscul Disord. 2011 Jul;21(7):489-93. doi: 10.1016/j.nmd.2011.03.004. Epub 2011 Apr 21. Neuromuscul Disord. 2011. PMID: 21514153

2

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.

Komaki H, Fukazawa T, Houzen H, Yoshida K, Nonaka I, Goto Y. Komaki H, et al. Ann Neurol. 2002 May;51(5):645-8. doi: 10.1002/ana.10172. Ann Neurol. 2002. PMID: 12112115

3

A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.

Mimaki M, Ikota A, Sato A, Komaki H, Akanuma J, Nonaka I, Goto Y. Mimaki M, et al. Among authors: komaki h. J Hum Genet. 2003;48(1):47-50. doi: 10.1007/s100380300005. J Hum Genet. 2003. PMID: 12560876

4

Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy.

Suwa K, Mizuguchi M, Momoi MY, Nakamura M, Arima K, Komaki H, Nonaka I. Suwa K, et al. Among authors: komaki h. Neuropathology. 2002 Dec;22(4):294-8. doi: 10.1046/j.1440-1789.2002.00461.x. Neuropathology. 2002. PMID: 12564770

5

A novel mtDNA C11777A mutation in Leigh syndrome.

Komaki H, Akanuma J, Iwata H, Takahashi T, Mashima Y, Nonaka I, Goto Y. Komaki H, et al. Mitochondrion. 2003 Mar;2(4):293-304. doi: 10.1016/S1567-7249(03)00003-5. Mitochondrion. 2003. PMID: 16120329

6

[Pleural effusion associated with long-term dantrolene administration in three patients with severe motor and intellectual disabilities].

Okada M, Nakagawa E, Masuyama T, Fujikawa Y, Komaki H, Sugai K, Sasaki M. Okada M, et al. Among authors: komaki h. No To Hattatsu. 2006 Jan;38(1):39-43. No To Hattatsu. 2006. PMID: 16447795 Review. Japanese.

7

Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy.

Saito Y, Miyashita S, Yokoyama A, Komaki H, Seki A, Maegaki Y, Ohno K. Saito Y, et al. Among authors: komaki h. Brain Dev. 2007 May;29(4):231-3. doi: 10.1016/j.braindev.2006.08.012. Epub 2006 Sep 28. Brain Dev. 2007. PMID: 17010549

8

[Two boys with non-progressive unilateral atrophy of the calf muscles].

Sasaki M, Oomi T, Segawa M, Komaki H, Sugai K. Sasaki M, et al. Among authors: komaki h. No To Hattatsu. 2006 Nov;38(6):458-62. No To Hattatsu. 2006. PMID: 17094567 Japanese.

9

[A case of Möbius syndrome presenting with symptoms of severe infantile form of congenital muscular disorder].

Imamura Y, Fujikawa Y, Komaki H, Nakagawa E, Sugai K, Sato N, Sasaki M. Imamura Y, et al. Among authors: komaki h. No To Hattatsu. 2007 Jan;39(1):59-62. No To Hattatsu. 2007. PMID: 17228821 Japanese.

10

[A case of hemimegalencephaly with slowly progressive expansion].

Yoshioka S, Sugai K, Fujikawa Y, Komaki H, Nakagawa E, Sasaki M. Yoshioka S, et al. Among authors: komaki h. No To Hattatsu. 2007 Nov;39(6):432-5. No To Hattatsu. 2007. PMID: 18027564 Japanese.

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