Yoshitomo Takahashi

发表

Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing

H. Miyajima, K. Shirakawa, Yoshitomo Takahashi, 2006, Neurology.

Autopsy case of neuro‐Behçet’s disease with multifocal neutrophilic perivascular inflammation

Yoshitomo Takahashi, Y. Arai, S. Kohno, 2006, Neuropathology : official journal of the Japanese Society of Neuropathology.

Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier

N. Hattori, Hitoshi Suzuki, H. Miyajima, 2007, Journal of the Neurological Sciences.

Use of desferrioxamine in the treatment of aceruloplasminemia

J. Gitlin, H. Miyajima, Yoshitomo Takahashi, 1997, Annals of neurology.

A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis

H. Miyajima, M. Serizawa, Yoshitomo Takahashi, 1999, Neuroscience Letters.

Increased lipid peroxidation and mitochondrial dysfunction in aceruloplasminemia brains.

H. Miyajima, S. Kono, Yoshitomo Takahashi, 2002, Blood cells, molecules & diseases.

Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia

M. Kitagawa, Hitoshi Suzuki, H. Miyajima, 2007, NeuroMolecular Medicine.

Aceruloplasminemia, an inherited disorder of iron metabolism

H. Miyajima, S. Kono, Yoshitomo Takahashi, 2003, Biometals.

Erythrocyte membrane abnormalities in patients with amyotrophic chorea with acanthocythosis Part 2. Abnormal degradation of membrane proteins

N. Yanagisawa, M. Oshima, Y. Osawa, 1985, Journal of the Neurological Sciences.

Characterization of the glycolysis in lactate dehydrogenase‐A deficiency

H. Miyajima, Yoshitomo Takahashi, Eizo Kaneko, 1995, Muscle & nerve.

Cys-881 is essential for the trafficking and secretion of truncated mutant ceruloplasmin in aceruloplasminemia.

M. Kitagawa, Hitoshi Suzuki, H. Miyajima, 2007, Journal of hepatology.

Extrapyramidal and cerebellar movement disorder in association with heterozygous ceruloplasmin gene mutation

M. Schaefer, H. Miyajima, D. Cooper-Mahkorn, 2005, Journal of Neurology.

Glucose and oxygen hypometabolism in aceruloplasminemia brains.

H. Miyajima, Y. Ouchi, A. Hishida, 2002, Internal medicine.

Defective electron transfer in complexes I and IV in patients with aceruloplasminemia

H. Miyajima, A. Hishida, Yoshitomo Takahashi, 2000, Journal of the Neurological Sciences.

Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia.

S. Yamaguchi, H. Miyajima, S. Kono, 2006, Gastroenterology.

Identification and in silico characterization of a novel compound heterozygosity associated with hereditary aceruloplasminemia

U. Mihm, S. Zeuzem, C. Sarrazin, 2007, Scandinavian journal of gastroenterology.

Increased anaerobic glycolysis in mitochondrial trifunctional protein-deficient brain

H. Miyajima, Y. Ouchi, S. Kono, 2001, Journal of the Neurological Sciences.

Treatment of symptomatic heterozygous aceruloplasminemia with oral zinc sulphate

H. Miyajima, Y. Takahashi, H. Bewermeyer, 2007, Brain and Development.

Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation

H. Miyajima, Y. Takahashi, S. Kono, 2001, Neurology.

Aceruloplasminemia with a novel mutation associated with parkinsonism

H. Miyajima, Yoshitomo Takahashi, S. Kohno, 2000, Neurogenetics.

Estimation of the gene frequency of aceruloplasminemia in Japan

H. Miyajima, Y. Takahashi, T. Kanno, 1999, Neurology.

Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease.

S. Nagataki, J. Gitlin, H. Miyajima, 1996, Human molecular genetics.

Progressive multifocal leukoencephalopathy complicating X-linked hyper-IgM syndrome in an adult.

H. Miyajima, Yoshitomo Takahashi, H. Suzuki, 2006, Internal medicine.

Increased very long-chain fatty acids in erythrocyte membranes of patients with aceruloplasminemia

J. Gitlin, H. Miyajima, Y. Takahashi, 1998, Neurology.

Increased plasma lipid peroxidation in patients with aceruloplasminemia.

J. Gitlin, H. Miyajima, Y. Takahashi, 1996, Free radical biology & medicine.

Stiff-person syndrome associated with cerebellar ataxia and high glutamic acid decarboxylase antibody titer.

H. Miyajima, Y. Takahashi, A. Hishida, 2001, Internal medicine.