Get started
Author

Toshiyuki Kumagai

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly
2012 · Yuriko Yoneda, Kazuhiro Haginoya, et al. · Annals of Neurology · 183
Novel Mutations and Genotype-Phenotype Relationships in 107 Families With Fukuyama-Type Congenital Muscular Dystrophy (FCMD)
1999 · E. Kondo-Iida, K. Kobayashi, et al. · Human Molecular Genetics · 172
Age‐related changes in BDNF protein levels in human serum: differences between autism cases and normal controls
2007 · Ritsuko Katoh‐Semba, Rie Wakako, et al. · International Journal of Developmental Neuroscience · 164
Phosphorylated high molecular weight neurofilament protein in lower motor neurons in amyotrophic lateral sclerosis and other neurodegenerative diseases involving ventral horn cells
1990 · G. Sobue, Y. Hashizume, et al. · Acta Neuropathologica · 122
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3mutations
2010 · Kenichiro Yamada, Kiyokuni Miura, et al. · BMC Medical Genetics · 110
PDF
Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features
2001 · Kenichiro Yamada, Yasukazu Yamada, et al. · The American Journal of Human Genetics · 99
Epilepsy in Angelman Syndrome Associated with Chromosome 15q Deletion
1992 · Akiko Matsumoto, Toshiyuki Kumagai, et al. · Epilepsia · 96
Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy
1993 · Gen Sobue, Manabu Doyu, et al. · Journal of the Neurological Sciences · 78
Two Cases of Chromosome 4q35-Linked Early Onset Facioscapulohumeral Muscular Dystrophy with Mental Retardation and Epilepsy
1998 · K. Miura, T. Kumagai, et al. · Neuropediatrics · 68
Clinical Effects of Thyrotropin‐Releasing Hormone for Severe Epilepsy in Childhood: A Comparative Study with ACTH Therapy
1987 · Akiko Matsumoto, Toshiyuki Kumagai, et al. · Epilepsia · 66
Reduced Aquaporin 4 Expression in the Muscle Plasma Membrane of Patients With Duchenne Muscular Dystrophy
2002 · Yoshihiro Wakayama, Takahiro Jimi, et al. · Archives of Neurology · 65
Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium.
1994 · T Toda, S Ikegawa, et al. · PubMed Central · 59
Magnetic resonance imaging and positron emission tomography of band heterotopia
1993 · Kiyokuni Miura, Kazuyoshi Watanabe, et al. · Brain and Development · 48
Long-term prognosis of tuberous sclerosis with epilepsy in children
1987 · Naoki Yamamoto, Kazuyoshi Watanabe, et al. · Brain and Development · 43
SIL1, a causative cochaperone gene of Marinesco‐Sjögren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex
2014 · Yutaka Inaguma, Nanako Hamada, et al. · EMBO Molecular Medicine · 41
PDF
Dystrophin immunostaining and freeze-fracture studies of muscles of patients with early stage amyotrophic lateral sclerosis and Duchenne muscular dystrophy
1989 · Yoshihiro Wakayama, Takahiro Jimi, et al. · Journal of the Neurological Sciences · 41
Mutations in HADHB, which encodes the β‐subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy
2014 · Misako Naiki, Nobuhiko Ochi, et al. · American Journal of Medical Genetics Part A · 40
Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1‐qter)
2011 · Seiji Mizuno, Daisuke Fukushi, et al. · American Journal of Medical Genetics Part A · 40
Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome
2005 · Naoko Uemura, Akiko Matsumoto, et al. · Brain and Development · 40
Duchenne dystrophy
1984 · Yoshihiro Wakayama, Hiroyuki Okayasu, et al. · Neurology · 40
Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD)
1998 · Kazuhiro Kobayashi, Yutaka Nakahori, et al. · Human Genetics · 39
Temporal lobe lesion demonstrating features of dysembryoplastic neuroepithelial tumor and ganglioglioma: a transitional form?
1997 · Y Shimbo, H Takahashi, et al. · PubMed · 39
Congenital Hypomyelination Neuropathy in a Newborn
1983 · S. Hakamada, T. Kumagai, et al. · Neuropediatrics · 35
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation
2001 · Yasukazu Yamada, Kiyokuni Miura, et al. · Human Mutation · 33
PDF
Williams syndrome and deficiency in visuospatial recognition
2001 · Miho Nakamura, Kazuyoshi Watanabe, et al. · Developmental Medicine & Child Neurology · 32
Works count: 66
Citation count: 2,162
H-index: 27
I10-index: 41
Year
Topic
Type