T. Wada

发表

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Philippe Joly, Jan Traeger-Synodinos, Webb Miller, 2011, Nature Genetics.

Mutations in the chromatin‐associated protein ATRX

I. Krantz, D. Goudie, D. Steensma, 2008, Human mutation.

Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and Localization.

T. Terasaki, S. Ohtsuki, S. Ito, 2017, Biological & pharmaceutical bulletin.

Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly.

H. Osaka, H. Saitsu, T. Niwa, 2015, Magnetic resonance in medical sciences : MRMS : an official journal of Japan Society of Magnetic Resonance in Medicine.

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

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

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.

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.

N. Matsumoto, H. Osaka, H. Saitsu, 2012, Molecular genetics and metabolism.

A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes

H. Osaka, Hiroko Shimbo, T. Wada, 2012, Amino Acids.

Autosomal dominant leukoencephalopathy with mild clinical symptoms due to cerebrovascular dysfunctions: A new disease entity?

K. Arima, T. Wada, S. Hirabayashi, 2008, Brain and Development.

Current status and legal/ethical problems in the research use of the tissues of aborted human fetuses in Japan

T. Wada, Takahiro Yamada, S. Kosugi, 2020, Congenital anomalies.

Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts

P. Couraud, H. Osaka, S. Ohtsuki, 2020, Pharmaceutical Research.

Delineation of the KIAA2022 mutation phenotype: Two patients with X‐linked intellectual disability and distinctive features

Y. Kuroda, K. Kurosawa, J. Nagai, 2015, American journal of medical genetics. Part A.

A new detection method for ATRX gene mutations using a mismatch‐specific endonuclease

Y. Fukushima, S. Saitoh, T. Wada, 2006, American journal of medical genetics. Part A.

Non‐skewed X‐inactivation may cause mental retardation in a female carrier of X‐linked α‐thalassemia/mental retardation syndrome (ATR‐X): X‐inactivation study of nine female carriers of ATR‐X

Y. Fukushima, S. Saitoh, T. Wada, 2005, American journal of medical genetics. Part A.

Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.

S. Saitoh, Yoshio Takahashi, T. Wada, 2002, Pediatric neurology.

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36

Y. Fukushima, N. Matsumoto, K. Koike, 2008, American journal of medical genetics. Part A.

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.

Clinical characteristics of Angelman syndrome patients with a non‐IC‐deleted imprinting mutation

N. Niikawa, S. Saitoh, T. Wada, 1999, Clinical genetics.

Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study

T. Kawaguchi, F. Matsuda, K. Higasa, 2019, Journal of Human Genetics.

Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

Y. Fukushima, S. Saitoh, T. Kubota, 2000, American journal of medical genetics.

Pharmacological prospects of G-quadruplexes for neurological diseases using porphyrins.

N. Shioda, Sefan Asamitsu, T. Wada, 2020, Biochemical and biophysical research communications.

Neuroradiologic Features in X-linked α-Thalassemia/Mental Retardation Syndrome

N. Okamoto, N. Aida, T. Wada, 2013, American Journal of Neuroradiology.

A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR‐X phenotype

Y. Fukushima, S. Saitoh, T. Wada, 2005, American journal of medical genetics. Part A.

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes

Y. Fukushima, A. Nakamura, Kunihiro Yoshida, 2007, American journal of medical genetics. Part A.

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

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

Sporadic hemiplegic migraine presenting as acute encephalopathy

Yasuhiro Suzuki, T. Wada, Yoshiaki Saito, 2012, Brain and Development.

Case report Sporadic hemiplegic migraine presenting as acute encephalopathy

Yasuhiro Suzuki, T. Wada, Yoshiaki Saito, 2011 .

Implementation of Molecular Autopsy for Sudden Cardiac Death in Japan　- Focus Group Study of Stakeholders.

S. Kosugi, Kanako Koike, T. Wada, 2022, Circulation journal : official journal of the Japanese Circulation Society.

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2

Y. Kuroda, K. Kurosawa, J. Nagai, 2014, American journal of medical genetics. Part A.

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure

Y. Fukushima, N. Matsumoto, F. Hirahara, 2011, Journal of Human Genetics.

Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization

Y. Fukushima, H. Tanabe, S. Saitoh, 2012, Chromosome Research.

One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.

Y. Fukushima, T. Kubota, T. Wada, 2008, Genetic testing.

Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome

S. Saitoh, N. Oiso, T. Wada, 2000, Journal of medical genetics.

STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

H. Arai, M. Kubota, N. Matsumoto, 2010, Epilepsia.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

D. Lev, D. Chitayat, N. Matsumoto, 2013, Neurology.

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations

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

Parent-of-origin specific histone acetylation and reactivation of a key imprinted gene locus in Prader-Willi syndrome.

S. Saitoh, T. Wada, 2000, American journal of human genetics.

A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX

K. Kurosawa, Hiroko Shimbo, S. Ninomiya, 2014, Journal of Human Genetics.

Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization

Y. Fukushima, H. Tanabe, T. Wada, 2012, Chromosome Research.

Mortality and morbidity of infants with trisomy 21, weighing 1500 grams or less, in Japan

T. Nakayama, S. Kosugi, M. Fujimura, 2022, Journal of Human Genetics.

Current State of “Infant Home Visiting Service for All Houses” in Nagano Prefecture

T. Tsukahara, M. Kanai, T. Wada, 2011 .

A novel splicing mutation of the ATRX gene in ATR-X syndrome

Y. Fukushima, S. Saitoh, T. Wada, 2006, Brain and Development.

ATR-X Syndrome

R. Gibbons, T. Wada, 2003 .

Detection of lymphocytes and granulocytes expressing the mutant WASP message in carriers of Wiskott‐Aldrich syndrome

S. Saitoh, M. Yamada, T. Ariga, 1999, British journal of haematology.

Genetic diagnosis and acetazolamide treatment of familial hemiplegic migraine

J. Takanashi, T. Wada, H. Arai, 2011, Brain and Development.

A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation

S. Saitoh, M. Sasaki, E. Nakagawa, 2009, American journal of medical genetics. Part A.

Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan

Y. Fukushima, Kunihiro Yoshida, S. Ikeda, 2007, Journal of Human Genetics.

Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome

K. Fukunaga, H. Tanabe, H. Sugiyama, 2018, Nature Medicine.

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.

Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation

S. Saitoh, N. Oiso, T. Wada, 2000 .

Acute hemicerebellitis in a pediatric patient: a case report of a serial MR spectroscopy study

T. Obata, Tadahiro Mitani, H. Osaka, 2012, Acta radiologica.

Mycoplasma pneumoniae infection may cause striatal lesions leading to acute neurologic dysfunction

S. Saitoh, S. Kohsaka, T. Wada, 1993, Neurology.

[Three Japanese children with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)].

M. Masuno, Y. Kuroki, Y. Matsushita, 1998, No to hattatsu = Brain and development.

Effect of ATRX and G‐Quadruplex Formation by the VNTR Sequence on α‐Globin Gene Expression

H. Sugiyama, N. Shioda, Yuki Suzuki, 2016, Chembiochem : a European journal of chemical biology.

5‐Aminolevulinic acid can ameliorate language dysfunction of patients with ATR‐X syndrome

N. Shioda, T. Wada, Shuichi Suzuki, 2019, Congenital anomalies.

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 novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).

H. Shimizu, S. Saitoh, M. Ishii, 2003, Journal of dermatological science.

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment

Y. Fukushima, N. Niikawa, N. Matsumoto, 2008, Clinical dysmorphology.

The short-term mortality and morbidity of very low birth weight infants with trisomy 18 or trisomy 13 in Japan

T. Nakayama, Yoshimitsu Takahashi, T. Wada, 2020, Journal of Human Genetics.

Non‐chromosome 15 marker chromosome in a Prader‐Willi syndrome patient with uniparental disomy

Maki Okajima, S. Saitoh, H. Tonoki, 2006, Pediatrics international : official journal of the Japan Pediatric Society.

Epidemiology of Birth Defects in Very Low Birth Weight Infants in Japan.

T. Nakayama, Yoshimitsu Takahashi, T. Wada, 2020, The Journal of pediatrics.

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

K. Kosaki, T. Takenouchi, T. Chiyonobu, 2021, Human Genome Variation.

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

K. Kosaki, T. Takenouchi, S. Kosugi, 2021, Human genome variation.

A Pharmacoepidemiologic Study on the Relationship between Neuropsychiatric Symptoms and Therapeutic Drugs after Influenza Infection

H. Osaka, T. Wada, M. Mori, 2010 .

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome

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

Transient ischemic attack-like episodes without stroke-like lesions in MELAS

H. Osaka, N. Aida, T. Wada, 2013, Pediatric Radiology.

Phenotypic variability in a family with a mitochondrial DNA T8993C mutation.

S. Saitoh, N. Tachi, T. Wada, 1998, Pediatric neurology.

Genotype & Phenotype of Ohtahara Syndrome-What's SCN2A Got to Do With It? A Clinician's Read

D. Lev, D. Chitayat, N. Matsumoto, 2014 .

Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family

S. Saitoh, M. Kitagawa, H. Sasaki, 2008, Journal of Neurology.

Creutzfeldt‐Jakob disease cluster in an Australian rural city

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

Acute Encephalopathy in a Patient with Dravet Syndrome

K. Yamakawa, H. Osaka, A. Okumura, 2011, Neuropediatrics.

A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes

H. Osaka, Hiroko Shimbo, T. Wada, 2012, Amino Acids.

Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome

K. Fukunaga, H. Tanabe, H. Sugiyama, 2018, Nature Medicine.

A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.

S. Kaler, H. Osaka, H. Kodama, 2014, Pediatric neurology.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

D. Lev, D. Chitayat, N. Matsumoto, 2013, Neurology.

Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia

H. Osaka, S. Kure, Hiroko Shimbo, 2012, Brain and Development.

Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and Localization.

T. Terasaki, S. Ohtsuki, S. Ito, 2017, Biological & pharmaceutical bulletin.