Kyoko Takano

发表

Application of Magnetoencephalography in Epilepsy Patients with Widespread Spike or Slow‐wave Activity

E. Halgren, A. Dale, S. Stufflebeam, 2005, Epilepsia.

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

Emil Alexov, Kyoko Takano, Shawn Witham, 2012, Human molecular genetics.

Comparison of Three Methods for Localizing Interictal Epileptiform Discharges With Magnetoencephalography

P. G. Larsson, E. Halgren, A. Dale, 2011, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8

Kyoko Takano, H. Osaka, Hiroko Shimbo, 2014, Brain and Development.

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review

Y. Fukushima, Kyoko Takano, Eriko Nishi, 2019, American journal of medical genetics. Part A.

Possible involvement of the tip of temporal lobe in Landau–Kleffner syndrome

H. Shiraishi, T. Shiga, Kyoko Takano, 2007, Brain and Development.

Case report Possible involvement of the tip of temporal lobe in Landau-Kleffner syndrome

H. Shiraishi, T. Shiga, Kyoko Takano, 2007 .

Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review

Kyoko Takano, Y. Nakazawa, Y. Inaba, 2017, Brain and Development.

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Y. Fukushima, Kyoko Takano, K. Wakui, 2017, European journal of medical genetics.

Germline mosaicism of a novel mutation in lysosome‐associated membrane protein‐2 deficiency (Danon disease)

I. Nishino, Kyoko Takano, S. Saitoh, 2002, Annals of neurology.

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

Y. Kamatani, M. Kubo, Y. Momozawa, 2019, Cold Spring Harbor molecular case studies.

A loss‐of‐function mutation in the FTSJ1 gene causes nonsyndromic X‐linked mental retardation in a japanese family

Y. Goto, Kyoko Takano, S. Kure, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome.

Kyoko Takano, S. Ikegami, Y. Inaba, 2019, Spine.

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8

Y. Fukushima, Kyoko Takano, Kunihiro Yoshida, 2017, Human Genome Variation.

High uptake on 11C-methionine positron emission tomographic scan of basal ganglia germinoma with cerebral hemiatrophy.

S. Terae, T. Shiga, Kyoko Takano, 2003, AJNR. American journal of neuroradiology.

Germline mosaicism of a novel UBE3A mutation in Angelman syndrome

Kyoko Takano, S. Saitoh, Soichiro Tanaka, 2005, American journal of medical genetics. Part A.

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

Y. Goto, Kyoko Takano, H. Osaka, 2014, Molecular genetics and metabolism reports.

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

Kyoko Takano, M. Sumi, N. Koitabashi, 2022, American journal of medical genetics. Part A.

Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy

Kyoko Takano, N. Higurashi, S. Hirose, 2015, Seizure.

Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis

Y. Fukushima, Kyoko Takano, Y. Nakazawa, 2021, American journal of medical genetics. Part A.

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations

Kyoko Takano, H. Osaka, A. Ohtake, 2012, Brain and Development.

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss

N. Matsumoto, Kyoko Takano, N. Miyake, 2014, Journal of Human Genetics.

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.

Y. Fukushima, T. Ogata, Kyoko Takano, 2018, The Journal of clinical endocrinology and metabolism.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2020, American journal of human genetics.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2021, American journal of human genetics.

A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia.

Kyoko Takano, H. Osaka, Hiroko Shimbo, 2014, Pediatric neurology.

DNA demethylation reactivation of imprinted genes in cell lines from patients with Prader‐Willi syndrome and a mouse model

Kyoko Takano, Maki Okajima, S. Saitoh, 2007, American journal of medical genetics. Part A.

Japanese familial case of myoclonus–dystonia syndrome with a splicing mutation in SGCE

N. Matsumoto, Kyoko Takano, N. Miyake, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

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

N. Matsumoto, Kyoko Takano, Y. Tsurusaki, 2015, Brain and Development.

Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency

Kyoko Takano, H. Osaka, R. Weiss, 2021, Thyroid : official journal of the American Thyroid Association.

Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan

Kyoko Takano, Hiroki Matsuura, A. Okumura, 2021, Frontiers in Neurology.

Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials

T. Akiyama, Kyoko Takano, T. Kosho, 2020, Molecular genetics and metabolism reports.

Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.

Kyoko Takano, Maki Okajima, S. Saitoh, 2003, Pediatric neurology.

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome

Shinji Saitoh, Kyoko Takano, Akira Sudo, 2005, Brain and Development.

Kyoko Takano, H. Ikeda, Mitsuhiro Kato, 2013, Epilepsy Research.

WDR45 mutations in three male patients with West syndrome

N. Matsumoto, Kyoko Takano, N. Miyake, 2016, Journal of Human Genetics.

Aggregate formation analysis of GFAPR416W found in one case of Alexander disease

Kyoko Takano, H. Osaka, Hiroko Shimbo, 2019, Brain and Development.

Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.

Katsuhiro Kobayashi, T. Akiyama, M. Kubota, 2020, Pediatric neurology.

A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics

Emil Alexov, Kyoko Takano, Shawn Witham, 2011, Proteins.

Creutzfeldt‐Jakob disease cluster in an Australian rural city

I. Nishino, Kyoko Takano, S. Saitoh, 2002, Annals of neurology.

High-amplitude fast activity in EEG: An early diagnostic marker in children with beta-propeller protein-associated neurodegeneration (BPAN)

Kyoko Takano, H. Kidokoro, J. Natsume, 2020, Clinical Neurophysiology.

Elevation of neuron specific enolase and brain iron deposition on susceptibility‐weighted imaging as diagnostic clues for beta‐propeller protein‐associated neurodegeneration in early childhood: Additional case report and review of the literature

Y. Fukushima, Kyoko Takano, N. Aida, 2016, American journal of medical genetics. Part A.

Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Kyoko Takano, M. Yazaki, Y. Sekijima, 2021, Internal medicine.

A nationwide survey of Schaaf-Yang syndrome in Japan

Kyoko Takano, K. Kurosawa, T. Nishiyama, 2022, Journal of Human Genetics.

Mosaic paternally derived inv dup(15) may partially rescue the Prader–Willi syndrome phenotype with uniparental disomy

Kyoko Takano, S. Saitoh, H. Tonoki, 2007, Clinical genetics.

Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report

Kyoko Takano, H. Kato, G. Nishimura, 2017, Spine.

A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics

C. Schwartz, E. Alexov, Kyoko Takano, 2011, Proteins.