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Structural Basis for the Multiple Interactions of the MyD88 TIR Domain in TLR4 Signaling

Proceedings of the National Academy of Sciences - PNAS, 2009-06, Vol.106 (25), p.10260-10265

2009

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Selective Utilization of Nonhomologous End-Joining and Homologous Recombination DNA Repair Pathways during Nervous System Development

Proceedings of the National Academy of Sciences - PNAS, 2006-06, Vol.103 (26), p.10017-10022

2006

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Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency

Proceedings of the National Academy of Sciences - PNAS, 2009-02, Vol.106 (6), p.1880-1885

2009

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Impact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Therapy on Growth in Patients with Hunter Syndrome

Molecular genetics and metabolism reports, 2014, Vol.1 (C), p.184-196

2014

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Growth charts for patients with Hunter syndrome

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.5-18

2014

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Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB

JIMD Reports, Volume 21, 2015-01, Vol.21, p.1-13

2015

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STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

Epilepsia (Copenhagen), 2010-12, Vol.51 (12), p.2397-2405

2010

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Liver-Specific Silencing of the Human Gene Encoding Succinyl-CoA: 3-Ketoacid CoA Transferase

The Tohoku Journal of Experimental Medicine, 2008, Vol.215(3), pp.227-236

2008

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Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)

Expert opinion on orphan drugs, 2017-04, Vol.5 (4), p.295-307

2017

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Apparition of iodinated contrast agents in twin neonatal gastrointestinal tracts after maternal contrast-enhanced computed tomography

Japanese journal of radiology, 2011-08, Vol.29 (7), p.521-523

2011

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Current therapies for Morquio A syndrome and their clinical outcomes

Expert opinion on orphan drugs, 2016-09, Vol.4 (9), p.941-951

2016

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Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy

Pediatric radiology, 2010-12, Vol.40 (Suppl 1), p.127-129

2010

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Therapies of mucopolysaccharidosis IVA (Morquio A syndrome)

Expert opinion on orphan drugs, 2013-10, Vol.1 (10), p.805-818

2013

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Peroxisome Proliferator-induced Long Chain Acyl-CoA Thioesterases Comprise a Highly Conserved Novel Multi-gene Family Involved in Lipid Metabolism

The Journal of biological chemistry, 1999-11, Vol.274 (48), p.34317-34326

1999

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Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness

Molecular medicine reports, 2009-01, Vol.2 (1), p.69-72

2009

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Changes of Autonomic Nervous System Function in Patients With Breath-Holding Spells Treated With Iron

Journal of child neurology, 2002-05, Vol.17 (5), p.337-340

2002

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Myopathic form of very-long chain acyl-CoA dehydrogenase deficiency : Evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl

Pediatric research, 2001-02, Vol.49 (2), p.227-231

2001

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Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping

Human mutation, 2000-05, Vol.15 (5), p.430-438

2000

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Acute disseminated encephalomyelitis associated with enterovirus 71

Journal of pediatric infectious diseases, 2006-01, Vol.1 (2), p.115-118

2006

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Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency

Human mutation, 1998, Vol.12 (4), p.245-254

1998

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Spinal muscular atrophy type 1 with anti-acetylcholine receptor antibody

European journal of pediatrics, 2002-05, Vol.161 (5), p.293-294

2002

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Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region

The Journal of biological chemistry, 1999-03, Vol.274 (12), p.8077-8084

1999

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STXBPI mutations in early infantile epileptic encephalopathy with suppression-burst pattern

Epilepsia (Copenhagen), 2010, Vol.51 (12), p.2397-2405

2010

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Genomic and Mutational Analysis of the Mitochondrial Trifunctional Protein β-Subunit (HADHB) Gene in Patients with Trifunctional Protein Deficiency

Human molecular genetics, 1997-08, Vol.6 (8), p.1215-1224

1997

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Genes for the Human Mitochondrial Trifunctional Protein Î±- and Î²-Subunits Are Divergently Transcribed from a Common Promoter Region

The Journal of biological chemistry, 1999-03, Vol.274 (12), p.8077

1999

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Structural Basis for the Multiple Interactions of the MyD88 TIR Domain in TLR4 Signaling

Selective Utilization of Nonhomologous End-Joining and Homologous Recombination DNA Repair Pathways during Nervous System Development

Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency

Impact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Therapy on Growth in Patients with Hunter Syndrome

Growth charts for patients with Hunter syndrome

Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB

STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

Liver-Specific Silencing of the Human Gene Encoding Succinyl-CoA: 3-Ketoacid CoA Transferase

Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)

Apparition of iodinated contrast agents in twin neonatal gastrointestinal tracts after maternal contrast-enhanced computed tomography

Current therapies for Morquio A syndrome and their clinical outcomes

Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy

Therapies of mucopolysaccharidosis IVA (Morquio A syndrome)

Peroxisome Proliferator-induced Long Chain Acyl-CoA Thioesterases Comprise a Highly Conserved Novel Multi-gene Family Involved in Lipid Metabolism

Comparison of mitochondrial A3243G mutation loads in easily accessible samples from a family with maternally inherited diabetes and deafness

Changes of Autonomic Nervous System Function in Patients With Breath-Holding Spells Treated With Iron

Myopathic form of very-long chain acyl-CoA dehydrogenase deficiency : Evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl

Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping

Acute disseminated encephalomyelitis associated with enterovirus 71

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency

Spinal muscular atrophy type 1 with anti-acetylcholine receptor antibody

Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region

STXBPI mutations in early infantile epileptic encephalopathy with suppression-burst pattern

Genomic and Mutational Analysis of the Mitochondrial Trifunctional Protein β-Subunit (HADHB) Gene in Patients with Trifunctional Protein Deficiency

Genes for the Human Mitochondrial Trifunctional Protein Î±- and Î²-Subunits Are Divergently Transcribed from a Common Promoter Region

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