原著論文1
Kohda M, Murayama K, Ohtake A, et al.
A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory complex deficiencies.
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原著論文2
Kopajtich R, Murayama K, Okazaki Y, Ohtake A, et al.
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Am J Hum Genet.
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原著論文3
Omata T, Murayama K, et al.
Drugs indicated for mitochondrial dysfunction as treatments for acute encephalopathy with onset of febrile convulsive status epileptics.
J Neurol Sci.
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原著論文4
Imai A, Murayama K, Ohtake A, Okazaki Y, et al.
Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy.
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原著論文5
Imai A, Murayama K, Ohtake A, Okazaki Y, et al.
HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.
J Hum Genet.
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10.1038/jhg.2016.85. Epub 2016 Jun 30.
原著論文6
Imai A, Takeda A, Murayama K, Ohtake A, Okazaki Y, et al.
Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.
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原著論文7
Kim J, Kang E, Kim Y, Kim JM, Lee BH, Murayama K, Kim GH, Choi IH, Kim KM, Yoo HW.
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
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原著論文8
Hashimura Y, Murayama K, Ohtake A, et al.
Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate.
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原著論文9
Haack TB, Murayama K, Ohtake A, Okazaki Y, et al.
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Ann Clin Transl Neurol.
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原著論文10
Kishita Y, Murayama K, Ohtake A, Okazaki Y, et al.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet.
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原著論文11
Brea-Calvo G, Ohtake A, Okazaki Y, Murayama K, et al.
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Am J Hum Genet.
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10.1016/j.ajhg.2014.12.023
原著論文12
Haack TB, Murayama K, Ohtake A, Okazaki Y, et al.
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Ann Clin Transl Neurol.
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10.1002/acn3.189
原著論文13
Montassir H, Murayama K, Ohtake A, Okazaki Y, et al.
Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.
Brain Dev.
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10.1016/j.braindev.2014.10.013
原著論文14
Sato T, Murayama K, Ohtake A, et al.
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.
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原著論文15
Fukumura S, Murayama K, Ohtake A, et al.
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.
J Hum Genet.
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原著論文16
Kunii M, Murayama K, et al.
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
J Hum Genet.
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10.1038/jhg.2015.7
原著論文17
Kopajtich R, Murayama K, Ohtake A, Okazaki Y, et al.
Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy.
Am J Hum Genet.
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10.1016/j.ajhg.2014.10.017
原著論文18
Fukao T, Murayama K, Ohtake A, et al.
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
J Hum Genet.
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10.1038/jhg.2014.79
原著論文19
Ohtake A, Murayama K, Okazaki Y, et al.
Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.
Biochim Biophys Acta
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10.1016/j.bbagen.2014.01.025
原著論文20
Uehara N, Murayama K, Ohtake A, Okazaki Y, et al.
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.
Ann Clin Transl Neurol.
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