Noriyuki Akasaka

发表

West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14

S. Saitoh, J. Tohyama, Toshiyuki Yamamoto, 2011, American journal of medical genetics. Part A.

Vaccination and Infection as Causative Factors in Japanese Patients With Rasmussen Syndrome: Molecular Mimicry and HLA Class I

H. Osaka, A. Imamura, N. Kondo, 2006, Clinical & developmental immunology.

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

Shinji Saitoh, Hideaki Shiraishi, Mitsuhiro Kato, 2007, American journal of human genetics.

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

H. Shiraishi, N. Matsumoto, Mitsuhiro Kato, 2016, Brain and Development.

Rub epilepsy in an infant with Turner syndrome

J. Tohyama, Yu Kobayashi, Noriyuki Akasaka, 2015, Brain and Development.

A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria

E. Koshimizu, M. Sasaki, M. Ogasawara, 2019, Neuropediatrics.

Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.

N. Matsumoto, J. Tohyama, H. Saitsu, 2014, Epileptic disorders : international epilepsy journal with videotape.

MECP2 Duplication Syndrome in Male Patients with Severe Mental Retardation and Intractable Epilepsy

J. Inazawa, Y. Goto, J. Tohyama, 2010 .

Temporal changes in brain MRI findings in Rasmussen syndrome

Y. Inoue, T. Fujiwara, E. Yamazaki, 2011, Epileptic disorders : international epilepsy journal with videotape.

Nationwide survey (incidence, clinical course, prognosis) of Rasmussen’s encephalitis

H. Osaka, S. Nabatame, H. Oguni, 2010, Brain and Development.

Genetic variations of immunoregulatory genes associated with Rasmussen syndrome

A. Imamura, Y. Inoue, K. Matsuda, 2013, Epilepsy Research.

Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome.

J. Tohyama, A. Ogawa, Noriyuki Akasaka, 2013, Pediatric neurology.

Dandy–Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient

N. Matsumoto, Mitsuhiro Kato, J. Tohyama, 2011, American journal of medical genetics. Part A.

Megalencephaly and polymicrogyria with polydactyly syndrome.

Mitsuhiro Kato, J. Tohyama, K. Nishiyama, 2007, Pediatric neurology.

Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter

Y. Maegaki, Mitsuhiro Kato, H. Osaka, 2008, Brain and Development.

Autoantibodies and Cell‐mediated Autoimmunity to NMDA‐type GluRɛ2 in Patients with Rasmussen's Encephalitis and Chronic Progressive Epilepsia Partialis Continua

Masahiko Watanabe, M. Mishina, A. Imamura, 2005, Epilepsia.

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

J. Tohyama, H. Hattori, T. Kanda, 2005, Brain and Development.

Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency

T. Akiyama, N. Matsumoto, J. Tohyama, 2017, Brain and Development.

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

Y. Nomura, H. Mutoh, A. Takata, 2021, Nature Communications.

[A case of bilateral paramedian thalamic infarction in childhood with the sensory disturbance and the sensory loss of taste].

J. Tohyama, O. Kanazawa, Noriyuki Akasaka, 2004, No to hattatsu = Brain and development.

Acquired Opercular Epilepsy With Oromotor Dysfunction: Magnetoencephalographic Analysis and Efficacy of Corticosteroid Therapy

J. Tohyama, Yu Kobayashi, Noriyuki Akasaka, 2011, Journal of child neurology.

A Magnetoencephalographic Study of Patients with Panayiotopoulos Syndrome

J. Tohyama, O. Kanazawa, Noriyuki Akasaka, 2005, Epilepsia.

Brain maturation-related spike localization in Panayiotopoulos syndrome: magnetoencephalographic study.

S. Toyabe, M. Uchiyama, J. Tohyama, 2008, Pediatric neurology.

Magnetoencephalographic findings of Panayiotopoulos syndrome with frontal epileptic discharges.

J. Tohyama, O. Kanazawa, Noriyuki Akasaka, 2007, Pediatric neurology.

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2

J. Tohyama, Yu Kobayashi, Noriyuki Akasaka, 2012, Brain and Development.

Magnetoencephalography in Patients with Tuberous Sclerosis and Localization‐related Epilepsy

S. Kameyama, M. Uchiyama, Mitsuhiro Kato, 2006, Epilepsia.