Publications by authors named "Sumimasa Yamashita"

49Publications

Aggregate formation analysis of GFAP found in one case of Alexander disease.

Brain Dev 2019 Feb 10;41(2):195-200. Epub 2018 Sep 10.

Deptartment of Pediatrics, Jichi Medical School, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498, Japan. Electronic address:

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February 2019

Japanese Leigh syndrome case treated with EPI-743.

Brain Dev 2018 Feb 12;40(2):145-149. Epub 2017 Sep 12.

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Pediatrics, Jichi Medical University, Tochigi, Japan. Electronic address:

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February 2018

Potential utility of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism: a case report.

Clin Pediatr Endocrinol 2016 Jul 20;25(3):91-8. Epub 2016 Jul 20.

Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.

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July 2016

A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.

Brain Dev 2016 Jun 22;38(6):581-4. Epub 2015 Dec 22.

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.

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June 2016

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.

Brain Dev 2015 Jun 27;37(6):638-42. Epub 2014 Oct 27.

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Pediatrics, Jichi Medical School, Shimotsuke, Japan.

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June 2015

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.

J Hum Genet 2014 Dec 16;59(12):687-90. Epub 2014 Oct 16.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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December 2014

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.

Hum Mol Genet 2015 Feb 16;24(3):637-48. Epub 2014 Sep 16.

Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8556, Japan Department of Neuromuscular Research and.

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February 2015

Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.

Brain Dev 2015 Apr 7;37(4):442-5. Epub 2014 Aug 7.

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Pediatrics, Jichi Medical School, Shimotsuke, Tochigi, Japan. Electronic address:

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April 2015

Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome.

Brain Dev 2015 Feb 10;37(2):243-9. Epub 2014 May 10.

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan. Electronic address:

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February 2015

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

Mol Genet Metab Rep 2014 1;1:133-138. Epub 2014 Apr 1.

Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan; Department of Pediatrics, Jichi Medical School, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498, Japan.

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April 2014

Increased number of Hassall's corpuscles in myasthenia gravis patients with thymic hyperplasia.

J Neuroimmunol 2014 Apr 28;269(1-2):56-61. Epub 2014 Jan 28.

Department of Neurology, Institute of Health Bioscience, Graduate School of Medical Sciences, The University of Tokushima, Tokushima, Japan.

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April 2014

Genotype-phenotype correlations in alternating hemiplegia of childhood.

Neurology 2014 Feb 15;82(6):482-90. Epub 2014 Jan 15.

From the Department of Child Neurology (M. Sasaki, Y.S.), National Center of Neurology and Psychiatry, Kodaira; Department of Pediatrics and Central Research Institute for the Molecular Pathomechanisms of Epilepsy (A.I., S. Hirose) and Department of Biochemistry (B.Z.), Fukuoka University School of Medicine; Department of Pediatrics (N.M., K.I., S. Takada), Kobe University School of Medicine; Department of Pediatrics (A.A., Y.T.), Kansai Medical University, Osaka; Department of Neurology (H.A.), Chiba Children's Hospital; Division of Neurology (S.Y.), Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (T.O.), Nishi-Niigata Central Hospital, Niigata; Department of Pediatrics (Y. Oda, H.I.), Chigasaki Municipal Hospital; Department of Neurology (S. Hirabayashi), Nagano Children's Hospital, Azumino; Yasuhara Children's Clinic (A.Y.), Osaka; Department of Pediatrics (H.K.), Osaka City General Hospital; Division of Child Neurology (S.K.), Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi; Department of Pediatrics (M. Shimono), University of Occupational and Environmental Health, Kitakyushu; Department of Pediatrics (S.N.), Nagahama Red Cross Hospital; Department of Child Neurology (M. Suzuki), Aichi Prefectural Colony Central Hospital, Kasugai; Department of Pediatrics (T.Y.), Kyoto University School of Medicine; Department of Pediatrics (Y. Oyazato), Kakogawa-Nishi Municipal Hospital, Kakogawa; Department of Pediatrics (S. Tsuneishi), Medical and Welfare Center Kizuna, Kasai; Department of Child Development (S.O.), Faculty of Life Sciences, Kumamoto University Graduate School, Kumamoto; Department of Pediatric Neurology (K.Y.), Seirei-Mikatahara Hospital, Hamamatsu; Department of Pediatrics (S.D.), Kyoto Min-iren Chuo Hospital, Kyoto; Department of Child Neurology (T.A.), Okayama University Graduate School of Medicine; Department of Psychiatry (N.K.), Kyoto Katsura Hospital, Kyoto; Department of Pediatrics, (R.K.) Fukuo

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February 2014

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Neurology 2013 Sep 9;81(11):992-8. Epub 2013 Aug 9.

From the Department of Human Genetics (K. Nakamura, K. Nishiyama, H.K., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.), Yokohama City University Graduate School of Medicine, Yokohama; Department of Pediatrics (K. Nakamura, M.K., K. Hayasaka), Yamagata University Faculty of Medicine, Yamagata; Division of Neurology (H.O., S.Y., M. Okuda, T.W.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Child Neurology (E.N.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatric Neurology (K. Haginoya), Takuto Rehabilitation Center for Children, Sendai; Department of Pediatrics (J.T.), Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata; Department of Pediatrics (S.S.), Osaka Medical College Hospital, Osaka; National Epilepsy Center (K.I.), Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka; Department of Pediatrics (S.T.), Yokohama City University Medical Center, Yokohama; Department of Pediatrics (H.I.), Tokyo Metropolitan Bokuto Hospital, Tokyo, Japan; Metabolic Neurogenetic Clinic (D.L., T.L.-S.), Wolfson Medical Center, Holon, Israel; Department of Human Genetics (D.E.C.-B., C.E.V.), National Institute of Pediatrics, Mexico City, Mexico; Division of Child Neurology (M. Ohfu), Okinawa Nanbu Medical Center and Children's Medical Center, Okinawa, Japan; Institute of Medical Genetics (K.W.), University Medical Center Ljubljana; Department of Child, Adolescent and Developmental Neurology (B.G.S.), University Children's Hospital, Ljubljana, Slovenia; Department of Neurology (S.H.), Nagano Children's Hospital, Nagano, Japan; Department of Obstetrics and Gynecology (D.C.), The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto; and Division of Clinical and Metabolic Genetics (D.C., D.M.R.), The Hospital for Sick Children, University of Toronto, Canada.

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September 2013