Komaki H - Search Results

1

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

2

[ANT1, twinkle, POLG mutation].

Komaki H, Goto Y. Komaki H, et al. Nihon Rinsho. 2002 Apr;60 Suppl 4:353-6. Nihon Rinsho. 2002. PMID: 12013885 Review. Japanese. No abstract available.

3

[Complex I deficiency due to mutations in nuclear-encoded subunit genes].

Komaki H, Goto Y. Komaki H, et al. Nihon Rinsho. 2002 Apr;60 Suppl 4:371-5. Nihon Rinsho. 2002. PMID: 12013889 Review. Japanese. No abstract available.

4

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

5

[Mitochondrial disease].

Komaki H, Goto Y. Komaki H, et al. Ryoikibetsu Shokogun Shirizu. 2002;(37 Pt 6):181-4. Ryoikibetsu Shokogun Shirizu. 2002. PMID: 12483856 Review. Japanese. No abstract available.

6

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

7

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

8

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

9

Cochlear damage due to germanium-induced mitochondrial dysfunction in guinea pigs.

Yamasoba T, Goto Y, Komaki H, Mimaki M, Sudo A, Suzuki M. Yamasoba T, et al. Among authors: komaki h. Neurosci Lett. 2006 Feb 27;395(1):18-22. doi: 10.1016/j.neulet.2005.10.045. Epub 2005 Nov 9. Neurosci Lett. 2006. PMID: 16289317

10

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.

Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Goto Y. Shinozaki Y, et al. Among authors: komaki h. Brain Dev. 2009 Jun;31(6):469-72. doi: 10.1016/j.braindev.2008.08.006. Epub 2008 Sep 26. Brain Dev. 2009. PMID: 18823727

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