Hirano M - Search Results

1

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.

Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M. Quinzii CM, et al. Among authors: hirano m. Am J Hum Genet. 2008 Jan;82(1):208-13. doi: 10.1016/j.ajhg.2007.09.013. Am J Hum Genet. 2008. PMID: 18179901 Free PMC article.

2

Mitochondrial DNA depletion and dGK gene mutations.

Salviati L, Sacconi S, Mancuso M, Otaegui D, Camaño P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH. Salviati L, et al. Among authors: hirano m. Ann Neurol. 2002 Sep;52(3):311-7. doi: 10.1002/ana.10284. Ann Neurol. 2002. PMID: 12205643

3

Mitochondrial diseases.

Vu TH, Hirano M, DiMauro S. Vu TH, et al. Among authors: hirano m. Neurol Clin. 2002 Aug;20(3):809-39, vii-viii. doi: 10.1016/s0733-8619(01)00017-2. Neurol Clin. 2002. PMID: 12432831 Review.

4

A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.

Nishigaki Y, Tadesse S, Bonilla E, Shungu D, Hersh S, Keats BJ, Berlin CI, Goldberg MF, Vockley J, DiMauro S, Hirano M. Nishigaki Y, et al. Among authors: hirano m. Neuromuscul Disord. 2003 May;13(4):334-40. doi: 10.1016/s0960-8966(02)00283-3. Neuromuscul Disord. 2003. PMID: 12868503

5

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.

Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S. Mancuso M, et al. Among authors: hirano m. Arch Neurol. 2003 Jul;60(7):1007-9. doi: 10.1001/archneur.60.7.1007. Arch Neurol. 2003. PMID: 12873860

6

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S. Filosto M, et al. Among authors: hirano m. Arch Neurol. 2003 Sep;60(9):1279-84. doi: 10.1001/archneur.60.9.1279. Arch Neurol. 2003. PMID: 12975295

7

Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation.

Mancuso M, Ferraris S, Nishigaki Y, Azan G, Mauro A, Sammarco P, Krishna S, Tay SK, Bonilla E, Romansky SG, Hirano M, DiMauro S. Mancuso M, et al. Among authors: hirano m. J Neurol Sci. 2005 Jan 15;228(1):93-7. doi: 10.1016/j.jns.2004.10.018. J Neurol Sci. 2005. PMID: 15607216

8

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S. Naini AB, et al. Among authors: hirano m. Arch Neurol. 2005 Mar;62(3):473-6. doi: 10.1001/archneur.62.3.473. Arch Neurol. 2005. PMID: 15767514

9

POLG mutations and Alpers syndrome.

Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S. Davidzon G, et al. Among authors: hirano m. Ann Neurol. 2005 Jun;57(6):921-3. doi: 10.1002/ana.20498. Ann Neurol. 2005. PMID: 15929042

10

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M. Quinzii C, et al. Among authors: hirano m. Am J Hum Genet. 2006 Feb;78(2):345-9. doi: 10.1086/500092. Epub 2005 Dec 22. Am J Hum Genet. 2006. PMID: 16400613 Free PMC article.

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