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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

Neurology, 2007-07, Vol.69 (5), p.427

2007

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Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype

Journal of human genetics, 2009-02, Vol.54 (2), p.94-97

2009

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Prevalence and incidence rates of chronic inflammatory demyelinating polyneuropathy in the Japanese population

Journal of neurology, neurosurgery and psychiatry, 2008-09, Vol.79 (9), p.1040-1043

2008

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Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy

Journal of human genetics, 2005-09, Vol.50 (9), p.473-476

2005

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Intermittent jaundice in patients with acute leukaemia: A common mutation of the bilirubin uridine‐diphosphate glucuronosyltransferase gene among Asians

Journal of inherited metabolic disease, 1999-08, Vol.22 (6), p.747-753

1999

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Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II

Journal of human genetics, 2005-09, Vol.50 (8), p.395-402

2005

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Clinically mild encephalitis/encephalopathy with a reversible splenial lesion

Neurology, 2005-04, Vol.64 (8), p.1487; author reply 1487

2005

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Age-related Increases in Plasma Phosphatidylcholine Hydroperoxide Concentrations in Control Subjects and Patients with Hyperlipidemia

Clinical chemistry (Baltimore, Md.), 2000-06, Vol.46 (6), p.822-828

2000

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Hyperamino-acidaemia and hyperammonaemia in epileptic children treated with valproic acid

European journal of pediatrics, 1988-12, Vol.148 (3), p.267-269

1988

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Microcephaly, Cerebellar Atrophy, and Focal Segmental Glomerulosclerosis in Two Brothers: A Possible Mild Form of Galloway-Mowat Syndrome

Journal of child neurology, 2003-02, Vol.18 (2), p.147-149

2003

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Association of the uteroglobin gene polymorphism with IgA nephropathy

American journal of kidney diseases, 2002-01, Vol.39 (1), p.36-41

2002

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Polymorphisms of Heme Oxygenase-1 and Bilirubin UDP-Glucuronosyltransferase Genes are not Associated with Kawasaki Disease Susceptibility

The Tohoku Journal of Experimental Medicine, 2003, Vol.200(3), pp.155-159

2003

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Abnormality of PMP-22 gene in Japanese patients with Charcot-Marie-Tooth disease--comparison between Southern blot and polymerase chain reaction analysis in the detection of PMP-22 gene duplication

No To Shinkei, 1995-07, Vol.47 (7), p.687

1995

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Treatment and prognostic factors of stage I and II non-Hodgkin's lymphoma

[Hokkaido igaku zasshi] The Hokkaido journal of medical science, 1994-03, Vol.69 (2), p.347

1994

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Non-Hodgkin's lymphoma of stage I and II in elderly patients: a retrospective study in comparison with younger patients

Nihon Igaku Hoshasen Gakkai zasshi. Nippon acta radiologica, 1995-07, Vol.55 (8), p.576

1995

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A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia

Human genetics, 1999-04, Vol.104 (4), p.341-344

1999

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Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method

European journal of pediatrics, 1987-07, Vol.146 (4), p.370-372

1987

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A novel mutation of the myelin P(o) gene segregating Charcot-Marie-Toothdisease type 1B manifesting as trigeminal nerve thickening

Journal of neurology, neurosurgery and psychiatry, 1999-08, Vol.67 (2), p.250

1999

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Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia: observations on sisters with a mild T-protein defect

European journal of pediatrics, 1986-09, Vol.145 (4), p.267-270

1986

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Mutation analysis of phenylketonuria in Yamagata prefecture, Japan

Pediatrics international, 2001-02, Vol.43 (1), p.1-3

2001

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Effective evaluation of combination chemotherapy in stage I-II of non-Hodgkin's lymphoma--a comparison of treatment with multivariate analysis

Gan no rinsho. Japan journal of cancer clinics, 1989-06, Vol.35 (7), p.804

1989

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Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts

The Journal of pediatrics, 1993-07, Vol.123 (1), p.100-102

1993

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Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes : spondyloepiphyseal dysplasia, stanescu type

Skeletal radiology, 1998-04, Vol.27 (4), p.188-194

1998

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CT evaluation of primary benign retroperitoneal tumor

Radiation medicine, 1994-05, Vol.12 (3), p.115

1994

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Evaluation of a radioimmunoassay kit for neuron specific enolase "gamma-enolase Eiken"

Rinsho byori. The Japanese journal of clinical pathology, 1987-04, Vol.35 (4), p.458

1987

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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype

Prevalence and incidence rates of chronic inflammatory demyelinating polyneuropathy in the Japanese population

Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy

Intermittent jaundice in patients with acute leukaemia: A common mutation of the bilirubin uridine‐diphosphate glucuronosyltransferase gene among Asians

Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II

Clinically mild encephalitis/encephalopathy with a reversible splenial lesion

Age-related Increases in Plasma Phosphatidylcholine Hydroperoxide Concentrations in Control Subjects and Patients with Hyperlipidemia

Hyperamino-acidaemia and hyperammonaemia in epileptic children treated with valproic acid

Microcephaly, Cerebellar Atrophy, and Focal Segmental Glomerulosclerosis in Two Brothers: A Possible Mild Form of Galloway-Mowat Syndrome

Association of the uteroglobin gene polymorphism with IgA nephropathy

Polymorphisms of Heme Oxygenase-1 and Bilirubin UDP-Glucuronosyltransferase Genes are not Associated with Kawasaki Disease Susceptibility

Abnormality of PMP-22 gene in Japanese patients with Charcot-Marie-Tooth disease--comparison between Southern blot and polymerase chain reaction analysis in the detection of PMP-22 gene duplication

Treatment and prognostic factors of stage I and II non-Hodgkin's lymphoma

Non-Hodgkin's lymphoma of stage I and II in elderly patients: a retrospective study in comparison with younger patients

A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia

Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method

A novel mutation of the myelin P(o) gene segregating Charcot-Marie-Toothdisease type 1B manifesting as trigeminal nerve thickening

Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia: observations on sisters with a mild T-protein defect

Mutation analysis of phenylketonuria in Yamagata prefecture, Japan

Effective evaluation of combination chemotherapy in stage I-II of non-Hodgkin's lymphoma--a comparison of treatment with multivariate analysis

Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes : spondyloepiphyseal dysplasia, stanescu type

CT evaluation of primary benign retroperitoneal tumor

Evaluation of a radioimmunoassay kit for neuron specific enolase "gamma-enolase Eiken"

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