T. Kumagai

发表

Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome

Kazuyoshi Watanabe, A. Okumura, T. Negoro, 2005, Brain and Development.

Epilepsy in Angelman Syndrome Associated with Chromosome 15q Deletion

T. Yamanaka, K. Miura, S. Miyazaki, 1992, Epilepsia.

Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium.

I. Kanazawa, S. Ikegawa, T. Toda, 1994, American journal of human genetics.

Incidence of genetic subgroups of hereditary spinocerebellar ataxia in Fukushima Prefecture.

T. Kumagai, Y. Sugiura, T. Yamamoto, 2001, The Tohoku journal of experimental medicine.

Morphological and morphometric studies on the spinal cord lesion in Werdnig-Hoffmann disease

Y. Hashizume, T. Kumagai, 1982, Brain and Development.

Analysis of extracellular matrix proteins in malignant chicken cell lines.

T. Koyama, M. Yamazaki, T. Kumagai, 1997, The Journal of veterinary medical science.

SIL1, a causative cochaperone gene of Marinesco-Sjögren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex

K. Ohno, K. Nagata, Hidenori Ito, 2014, EMBO molecular medicine.

Administration of nusinersen via paramedian approach for spinal muscular atrophy

H. Kurahashi, A. Okumura, N. Wakao, 2020, Brain and Development.

Factors Influencing Effectiveness of Thyrotropin‐Releasing Hormone Therapy for Severe Epilepsy in Childhood: Significance of Serum Prolactin Levels

K. Watanabe, S. Miyazaki, S. Miyazaki, 1989, Epilepsia.

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1

K. Tanaka, N. Wakamatsu, T. Yamanaka, 2004, Journal of Medical Genetics.

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

K. Yokochi, A. Kakita, H. Arai, 2013, Annals of neurology.

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

S. Tsuji, R. Kuwano, N. Wakamatsu, 2010, BMC Medical Genetics.

Clinical Effects of Thyrotropin‐Releasing Hormone for Severe Epilepsy in Childhood: A Comparative Study with ACTH Therapy

S. Miyazaki, A. Matsumoto, T. Kumagai, 1987, Epilepsia.

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1‐qter)

S. Mizuno, N. Wakamatsu, D. Fukushi, 2011, American journal of medical genetics. Part A.

Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD

Zhujun Zhang, Y. Takeshima, M. Matsuo, 2010, BMC Medical Genetics.

Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.

N. Nomura, K. Kato, R. Wakako, 2001, American journal of human genetics.

[Central nervous system involvements in Duchenne/Becker muscular dystrophy].

K. Miura, S. Miyazaki, N. Ochi, 2001, No to hattatsu = Brain and development.

Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD)

Yusuke Nakamura, I. Nonaka, K. Tokunaga, 1998, Human Genetics.

Williams syndrome and deficiency in visuospatial recognition.

K. Watanabe, T. Yamanaka, S. Miyazaki, 2001, Developmental medicine and child neurology.

Development of human fetal muscles: a comparative histochemical analysis of the psoas and the quadriceps muscles.

S. Miyazaki, S. Hakamada, K. Hara, 1984, Neuropediatrics.

Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency in a girl.

S. Kashiwamata, S. Miyazaki, S. Hakamada, 1984, Advances in experimental medicine and biology.

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype‐phenotype correlation

N. Nomura, K. Kurosawa, N. Wakamatsu, 2001 .

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2

N. Nomura, K. Yamaguchi, N. Wakamatsu, 2014, American journal of medical genetics. Part A.

Congenital hypomyelination neuropathy in a newborn.

S. Miyazaki, S. Hakamada, K. Hara, 1983, Neuropediatrics.

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

Y. Nakamura, M. Watanabe, T. Toda, 1999, Human molecular genetics.

Development of visuospatial ability and kanji copying in Williams Syndrome.

R. Kakigi, Shoko Watanabe, S. Mizuno, 2009, Pediatric neurology.

Williams syndrome and deficiency in visuospatial recognition

Kazuyoshi Watanabe, Miho Nakamura, T. Yamanaka, 2001 .

SIL 1 , a causative cochaperone gene of Marinesco-Sj € ogren syndrome , plays an essential role in establishing the architecture of the developing cerebral cortex

K. Ohno, K. Nagata, Hidenori Ito, 2013 .

Peripheral neuropathy in Marinesco-Sjögren syndrome

G. Sobue, Kazuyoshi Watanabe, S. Hakamada, 1981, Brain and Development.

Two Cases of Chromosome 4q35-Linked Early Onset Facioscapulohumeral Muscular Dystrophy with Mental Retardation and Epilepsy

K Goto, K. Watanabe, K. Goto, 1998, Neuropediatrics.

[Various central nervous system involvements in dystrophinopathy: clinical and genetic considerations].

Yoshiko Suzuki, K. Miura, T. Kumagai, 2008, No to hattatsu = Brain and development.

Long‐Term Prognosis of Lennox‐Gastaut Syndrome

Kazuyoshi Watanabe, T. Negoro, I. Takahashi, 1987 .

Magnetic resonance imaging and positron emission tomography of band heterotopia

Takashi Kato, Kengo Ito, Kazuyoshi Watanabe, 1993, Brain and Development.

Long-term prognosis of tuberous sclerosis with epilepsy in children

Kazuyoshi Watanabe, T. Negoro, N. Yamamoto, 1987, Brain and Development.

Body movements during sleep in full-term newborn infants

Kazuyoshi Watanabe, S. Hakamada, K. Hara, 1982, Brain and Development.

Hironori Ito, R. Wakako, R. Katoh‐Semba, 2007, International Journal of Developmental Neuroscience.

[Long-term follow-up of a patient with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome].

K. Maruyama, K. Miura, T. Kumagai, 2009, No to hattatsu = Brain and development.

6 Aneuploidy and Intellectual Disability

S. Mizuno, N. Wakamatsu, D. Fukushi, 2012 .

Aneuploidy and Intellectual Disability

S. Mizuno, N. Wakamatsu, D. Fukushi, 2012 .

Three Infant Cases of Smad Interacting Protein 1 (SIP1) Abnormalities with Epilepsy

J. Kato, N. Wakamatsu, T. Yamanaka, 2004 .

Difficulty in writing Japanese semantic characters in a 9-year-old boy with Williams syndrome.

K. Hara, T. Yamanaka, K. Miura, 1999, Journal of intellectual disability research : JIDR.

The conduction velocity of slower and the fastest fibres in infancy and childhood.

S. Miyazaki, S. Hakamada, K. Hara, 1982, Journal of neurology, neurosurgery, and psychiatry.

Mutations in HADHB, which encodes the β‐subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy

J. Purevsuren, N. Wakamatsu, S. Hara, 2014, American journal of medical genetics. Part A.