J. Takanashi

发表

Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants

Masahiro Ito, M. Kubota, N. Matsumoto, 2021, Brain and Development.

Proteolipid protein gene duplications causing Pelizaeus‐Merzbacher disease: Molecular mechanism and phenotypic manifestations

L. Shaffer, J. Lupski, H. Osaka, 1999, Annals of neurology.

Clinical pictures in Pelizaeus-Merzbacher disease: a report of a case.

H. Osaka, K. Kurosawa, J. Takanashi, 2015, Journal of Nippon Medical School = Nippon Ika Daigaku zasshi.

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

N. Matsumoto, M. Shiina, K. Ogata, 2014, Neurology.

Kawasaki Disease Shock Syndrome in Japan and Comparison With Multisystem Inflammatory Syndrome in Children in European countries

J. Takanashi, J. Suzuki, H. Hamada, 2021, Frontiers in Pediatrics.

Prevalence and characteristics of human parechovirus and enterovirus infection in febrile infants

J. Takanashi, Shoko Hirose, T. Ogawa, 2018, Pediatrics international : official journal of the Japan Pediatric Society.

Whole‐exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia

T. Furukawa, N. Okamoto, A. Okumura, 2013, Neuropathology : official journal of the Japanese Society of Neuropathology.

Brainstem disconnection associated with nodular heterotopia and proatlantal arteries

A. Barkovich, A. Okumura, Toshiyuki Yamamoto, 2009, American journal of medical genetics. Part A.

POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy

Y. Tsurusaki, H. Saitsu, K. Kurosawa, 2020, Neurology: Genetics.

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

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

Fosphenytoin dosing regimen including optimal timing for the measurement of serum phenytoin concentration in pediatric patients

Emiko Kobayashi, J. Takanashi, K. Yasukawa, 2022, Brain and Development.

CLINICAL REPORT Neuroradiologic Features of CASK Mutations

J. Inazawa, H. Arai, N. Okamoto, 2010 .

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

Y. Wada, N. Okamoto, H. Osaka, 2019, Molecular genetics & genomic medicine.

In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations

H. Okano, H. Suemizu, T. Shofuda, 2016, Molecular Brain.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2014, Human Genetics.

Negative Correlation between Brain Glutathione Level and Negative Symptoms in Schizophrenia: A 3T 1H-MRS Study

Takayuki Obata, Hiroo Ikehira, Kenji Hashimoto, 2008, PloS one.

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies

Leo Gotoh, H. Osaka, Toshiyuki Yamamoto, 2014, Journal of Neurology.

Characteristic nail lesions in Kawasaki disease: Case series and literature review

T. Mitsuishi, J. Takanashi, A. Ando, 2021, The Journal of dermatology.

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

N. Matsumoto, M. Shiina, K. Ogata, 2011, American journal of human genetics.

Author reply to “Onycholysis associated with Kawasaki disease: A comment on characteristic nail lesions in Kawasaki disease: Case series and literature review”

T. Mitsuishi, J. Takanashi, A. Ando, 2022, The Journal of dermatology.

Panton-Valentine leukocidin-positive novel sequence type 5959 community-acquired methicillin-resistant Staphylococcus aureus meningitis complicated by cerebral infarction in a 1-month-old infant.

J. Takanashi, N. Ishiwada, Shoko Hirose, 2020, Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy.

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients

Y. Tohyama, Y. Takeshima, H. Nishio, 2014, Brain and Development.

In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations

H. Okano, H. Suemizu, T. Shofuda, 2016, Molecular Brain.

Prenatal clinical manifestations in individuals with COL4A1/2 variants

Yoshihiko Saito, A. Takata, H. Arai, 2020, Journal of Medical Genetics.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

MLL2 and KDM6A mutations in patients with Kabuki syndrome

N. Niikawa, M. Tekin, K. Ihara, 2013, American journal of medical genetics. Part A.

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

H. Tada, N. Matsumoto, N. Miyake, 2015, Clinical genetics.

Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.

T. Akiyama, N. Okamoto, S. Ninomiya, 2015, European journal of medical genetics.

Case of autoimmune glial fibrillary acidic protein astrocytopathy associated with Epstein–Barr virus reactivation

H. Mori, J. Takanashi, T. Ohashi, 2021, Clinical and Experimental Neuroimmunology.

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation

N. Matsumoto, N. Miyake, S. Miyatake, 2017, Human Genome Variation.

Increased N‐acetylaspartate in model mouse of pelizaeus‐merzbacher disease

A. Barkovich, I. Aoki, S. Saito, 2012, Journal of magnetic resonance imaging : JMRI.

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

J. Inazawa, N. Okamoto, H. Osaka, 2017, PloS one.

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts

A. Takata, N. Matsumoto, S. Ito, 2017, Clinical Genetics.

Metabolic changes in early childhood using LCModel with corrected water scaling method

Duan Xu, A. Barkovich, K. Maruyama, 2012, Journal of magnetic resonance imaging : JMRI.

Serum and CSF biomarkers in acute pediatric neurological disorders

T. Shiihara, M. Kubota, Mitsuhiro Kato, 2014, Brain and Development.

Neurochemistry in shiverer mouse depicted on MR spectroscopy

A. Barkovich, I. Aoki, S. Saito, 2014, Journal of magnetic resonance imaging : JMRI.

Vital Signs as Predictor Factors of Intravenous Immunoglobulin Resistance in Patients With Kawasaki Disease

J. Takanashi, H. Hamada, T. Honda, 2018, Clinical pediatrics.

Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet

H. Osaka, H. Saitsu, A. Ohtake, 2021, Molecular genetics and metabolism reports.

Prognostic factors among patients with Shiga toxin-producing Escherichia coli hemolytic uremic syndrome: A retrospective cohort study using a nationwide inpatient database in Japan.

H. Yasunaga, K. Fushimi, H. Matsui, 2023, Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy.

The first report of Japanese patients with asparagine synthetase deficiency

N. Matsumoto, M. Shiina, K. Ogata, 2017, Brain and Development.

A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

N. Matsumoto, S. Miyatake, E. Koshimizu, 2023, Radiology case reports.

MLL2 and KDM6A Mutations in Patients With

N. Niikawa, M. Tekin, K. Ihara, 2013 .

Aspirin Dose and Treatment Outcomes in Kawasaki Disease: A Historical Control Study in Japan

J. Takanashi, H. Hamada, Kota Abe, 2020, Frontiers in Pediatrics.

Fosphenytoin dosing regimen including optimal timing for the measurement of serum phenytoin concentration in pediatric patients

Emiko Kobayashi, J. Takanashi, K. Yasukawa, 2022, Brain and Development.

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

J. Inazawa, A. Hata, I. Imoto, 2011, Human Genetics.

[A case of anti-MOG antibody-positive multiphasic disseminated encephalomyelitis co-occurring with unilateral cerebral cortical encephalitis].

K. Hayashi, J. Takanashi, T. Ohashi, 2017, Rinsho shinkeigaku = Clinical neurology.

Molecular analysis of TSC2/PKD1 contiguous gene deletion syndrome.

M. Emi, M. Matsuo, K. Nozu, 2011, The Kobe journal of medical sciences.

Kobe University Repository : Kernel タイトル Tit le Molecular Analysis of TSC 2 / PKD 1 Cont iguous Gene Delet ion Syndrome

M. Emi, M. Matsuo, K. Nozu, 2019 .

Neurochemistry of Hypomyelination Investigated with MR Spectroscopy.

J. Takanashi, 2015, Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine.

A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy

H. Osaka, Y. Kuroda, Toshiyuki Yamamoto, 2023, American journal of medical genetics. Part A.

Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy

Mitsuhiro Kato, F. Miya, J. Takanashi, 2023, Brain and Development.

Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy

H. Saitsu, J. Takanashi, S. Aoki, 2022, Brain and Development.

Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report

N. Matsumoto, Takao Takahashi, Mitsuhiro Kato, 2016, Pediatrics.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

A Brain Morphometry Study with Across-Site Harmonization Using a ComBat-Generalized Additive Model in Children and Adolescents

E. Takahashi, S. Naganawa, Y. Hirano, 2023, Diagnostics.

A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS).

N. Matsumoto, H. Saitsu, M. Nakashima, 2020, Epileptic disorders : international epilepsy journal with videotape.

A child with mitochondrial DNA deletion presenting diabetes mellitus as an initial symptom

K. Murayama, J. Takanashi, Yasuhiro Maeda, 2022, Radiology case reports.

Specific HLA genotypes confer susceptibility to acute necrotizing encephalopathy

J. Takanashi, M. Mizuguchi, M. Kubota, 2016, Genes and Immunity.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2013, Human Genetics.

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

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

Neurochemistry in shiverer mouse depicted on MR spectroscopy

A. Barkovich, I. Aoki, S. Saito, 2014, Journal of magnetic resonance imaging : JMRI.