H. Osaka

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.

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 novel SLC9A1 mutation causes cerebellar ataxia

A. Takata, N. Matsumoto, S. Ito, 2018, Journal of Human Genetics.

Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2

N. Matsumoto, Yukichi Tanaka, N. Miyake, 2013, Brain and Development.

Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes

Hideyuki Okano, Noriyuki Kishi, Yohei Okada, 2014, Stem cell reports.

Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1

H. Osaka, T. Yamagata, S. Koizume, 2019, Molecular genetics and metabolism reports.

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus‐Merzbacher‐like disease

N. Matsumoto, H. Osaka, H. Saitsu, 2010, Annals of neurology.

Apomorphine rescues reactive oxygen species-induced apoptosis of fibroblasts with mitochondrial disease.

T. Abe, H. Osaka, T. Yamagata, 2019, Mitochondrion.

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.

Early magnetic resonance detection of cortical necrosis and acute network injury associated with neonatal and infantile cerebral infarction

H. Osaka, T. Niwa, N. Aida, 2014, Pediatric Radiology.

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Naomichi Matsumoto, Nobuhiko Okamoto, Yukifumi Monden, 2015, European Journal of Human Genetics.

Mitochonic Acid 5 Binds Mitochondria and Ameliorates Renal Tubular and Cardiac Myocyte Damage.

E. Mishima, T. Abe, S. Ito, 2016, Journal of the American Society of Nephrology : JASN.

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.

Genotype–phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

H. Osaka, G. Salomons, G. Mancini, 2015, Clinical Genetics.

A Japanese adult case of guanidinoacetate methyltransferase deficiency.

Katsuhiro Kobayashi, T. Akiyama, H. Yoshinaga, 2014, JIMD reports.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

Overexpression of ubiquitin carboxyl‐terminal hydrolase L1 arrests spermatogenesis in transgenic mice

K. Wada, J. Kwon, H. Osaka, 2006, Molecular reproduction and development.

SSADH deficiency possibly associated with enzyme activity-reducing SNPs

Katsuhiro Kobayashi, T. Akiyama, H. Yoshinaga, 2016, Brain and Development.

Microarray expression analysis of gad mice implicates involvement of Parkinson's disease associated UCH-L1 in multiple metabolic pathways.

K. Wada, S. Poths, O. Riess, 2004, Brain research. Molecular brain research.

De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies

K. Yamakawa, T. Hashikawa, H. Osaka, 2009, Neurology.

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation

K. Yamakawa, N. Yasui-Furukori, H. Osaka, 2007, Epilepsy Research.

MR-revealed myelination in the cerebral corticospinal tract as a marker for Pelizaeus-Merzbacher's disease with proteolipid protein gene duplication.

J. Takanashi, Y. Kohno, H. Osaka, 1999, AJNR. American journal of neuroradiology.

Low donor chimerism may be sufficient to prevent demyelination in adrenoleukodystrophy

H. Osaka, N. Shimozawa, T. Yamagata, 2021, JIMD reports.

Dopaminergic neuronal loss in transgenic mice expressing the Parkinson's disease-associated UCH-L1 I93M mutant

Hideki Hayakawa, Yoshikuni Mizuno, Rieko Setsuie, 2007, Neurochemistry International.

Phenotype of GABA-transaminase deficiency

W. Chung, P. Bonnen, J. Riviello, 2017, Neurology.

YAC/BAC-based physical and transcript mapping around the gracile axonal dystrophy (gad) locus identifies Uchl1, Pmx2b, Atp3a2, and Hip2 genes.

K. Wada, H. Kiyosawa, J. Suh, 2000, Genomics.

6‐Pyruvoyl‐tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study

T. Hanihara, H. Osaka, K. Kosaka, 1997, Movement disorders : official journal of the Movement Disorder Society.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2016, American journal of medical genetics. Part A.

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

K. Yokochi, H. Arai, N. Matsumoto, 2012, American journal of human genetics.

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

N. Matsumoto, H. Osaka, H. Saitsu, 2015, Journal of Neurology.

Pelizaeus‐Merzbacher disease: Three novel mutations and implication for locus heterogeneity

I. Kanazawa, K. Fujii, S. Murayama, 1999, Annals of neurology.

A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Brain and Development.

Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex

H. Shimizu, H. Osaka, Hideki Nakamura, 2010, Human mutation.

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

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

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

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

A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease

Y. Miyagi, H. Osaka, K. Kurosawa, 2016, Brain and Development.

Case Report A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease

Y. Miyagi, H. Osaka, K. Kurosawa, 2016 .

A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia

H. Osaka, H. Saitsu, M. Nakashima, 2022, Human Genome Variation.

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence

H. Osaka, Toshiyuki Yamamoto, K. Shimojima, 2017, Human Genome Variation.

Pairwise Electrostatic Interactions between a-Neurotoxins and g, d, and e Subunits of the Nicotinic Acetylcholine Receptor*

P. Taylor, S. Sine, H. Osaka, 2000 .

Long-term outcomes in motor and cognitive impairment with acute encephalopathy

H. Osaka, T. Yamagata, J. Shimizu, 2018, Brain and Development.

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.

Mutations in the Proteolipid Protein Gene in Japanese Families with Pelizaeus-Merzbacher Disease

H. Osaka, K. Kosaka, C. Kawanishi, 1997, Neurology.

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2015, Journal of Human Genetics.

1p36 deletion syndrome associated with Prader–Willi‐like phenotype

H. Osaka, K. Kurosawa, H. Yoshihashi, 2010, Pediatrics international : official journal of the Japan Pediatric Society.

A Japanese patient with neonatal biotin-responsive basal ganglia disease

H. Osaka, K. Murayama, M. Kohda, 2022, Human Genome Variation.

Serial magnetic resonance imaging in children with postinfectious encephalitis

H. Osaka, A. Nezu, S. Kimura, 1996, Brain and Development.

A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.

H. Osaka, K. Kosaka, C. Kawanishi, 1996, American journal of human genetics.

New point mutation (R301X) of the α‐galactosidase a gene causing fabry disease

T. Hanihara, H. Osaka, S. Kawamoto, 1995 .

Effect of curcumin in a mouse model of Pelizaeus-Merzbacher disease.

Y. Goto, T. Morimura, N. Inoue, 2012, Molecular genetics and metabolism.

Chronic subdural hematoma, as an initial manifestation of glutaric aciduria type-1

H. Osaka, S. Yamaguchi, A. Nezu, 1993, Brain and Development.

Role of Class III phosphoinositide 3‐kinase in the brain development: possible involvement in specific learning disorders

K. Nagata, M. Ohtsuki, H. Osaka, 2016, Journal of neurochemistry.

Novel acceptor splice site mutation in the invariant AG of intron 6 of α‐galactosidase A gene, causing Fabry disease

H. Osaka, Kyoko Suzuki, K. Kosaka, 1998 .

Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online.

H. Osaka, K. Kosaka, C. Kawanishi, 1998, Human mutation.

Rituximab was effective for acute disseminated encephalomyelitis followed by recurrent optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies

H. Osaka, Ayumi Matsumoto, Y. Monden, 2018, Brain and Development.

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.

Improvement of lesions shown on MRI and CT scan by administration of dichloroacetate in patients with Leigh syndrome

H. Osaka, A. Nezu, S. Kimura, 1995, Journal of the Neurological Sciences.

Retinoic Acid Induces Neuroblastoma Cell Death by Inhibiting Proteasomal Degradation of Retinoic Acid Receptor α

H. Osaka, J. Nagai, K. Okudela, 2004, Cancer Research.

Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases

O. Ohara, T. Abe, S. Ito, 2017, EBioMedicine.

Serial magnetic resonance imaging in post-infectious focal encephalitis due to influenza virus

H. Osaka, C. Shimizu, S. Kimura, 1995, Journal of the Neurological Sciences.

Distal 2q duplication in a patient with intellectual disability

N. Matsumoto, N. Miyake, S. Miyatake, 2022, Human Genome Variation.

Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication

N. Matsumoto, T. Takenouchi, S. Miyatake, 2022, Epilepsy & behavior reports.

Diagnostic accuracy of a novel SARS CoV-2 rapid antigen test and usefulness of specimens collected from the anterior nasal cavity

H. Osaka, T. Yamagata, Y. Morisawa, 2022, International Journal of Infectious Diseases.

Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene

H. Osaka, H. Harashima, Yuma Yamada, 2020, Scientific Reports.

Acute leucoencephalopathy during cyclosporin A therapy in a patient with nephrotic syndrome

H. Osaka, C. Shimizu, A. Nezu, 1994, Pediatric Nephrology.

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

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

Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease

Hideki Uosaki, H. Osaka, Y. Kishita, 2023, Molecular genetics and metabolism reports.

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.

M. Komada, N. Matsumoto, S. Saitoh, 2010, American journal of human genetics.

Tolosa-Hunt syndrome with pseudotumor cerebri report of an unusual case

H. Osaka, A. Nezu, S. Kimura, 1995, Brain and Development.

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

Takeshi Nakajima, H. Mizukami, Mitsuhiro Kato, 2019, Brain : a journal of neurology.

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies

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

Contributions of Studies of the Nicotinic Receptor from Muscle to Defining Structural and Functional Properties of Ligand-Gated Ion Channels

P. Taylor, H. Osaka, S. Malany, 2000 .

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.

Severe demyelination in a patient with a late infantile form of Niemann‐Pick disease type C

M. Mizuguchi, E. Nanba, H. Osaka, 2017, Neuropathology : official journal of the Japanese Society of Neuropathology.

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

N. Matsumoto, M. Shiina, K. Ogata, 2013, Human Genetics.

Gene Therapy in a Mouse Model of Niemann–Pick Disease Type C1

H. Osaka, S. Muramatsu, T. Yamagata, 2020, Human gene therapy.

Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy

H. Osaka, Hiroko Shimbo, S. Yamashita, 2015, Brain and Development.

Extremely low-dose vigabatrin for West syndrome with tuberous sclerosis

H. Osaka, K. Haginoya, S. Kure, 2013, Journal of Pediatric Epilepsy.

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.

O. Ohara, T. Awaya, T. Heike, 2014, Rheumatology.

Parkin potentiates ATP‐induced currents due to activation of P2X receptors in PC12 cells

K. Wada, Taiju Amano, H. Osaka, 2006, Journal of cellular physiology.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation

I. Nishino, H. Tsuda, H. Osaka, 2022, Molecular genetics & genomic medicine.

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

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

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Naomichi Matsumoto, Masaya Kubota, Mitsuhiro Kato, 2013, American journal of human genetics.

Novel biallelic SZT2 mutations in 3 cases of early‐onset epileptic encephalopathy

A. Takata, N. Matsumoto, N. Miyake, 2017, Clinical genetics.

De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy

Y. Wada, N. Matsumoto, Y. Maegaki, 2013, Human mutation.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

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

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.

L. Shaffer, J. Lupski, T. Bird, 2002, American journal of human genetics.

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations

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

Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation

N. Matsumoto, H. Osaka, Ayumi Matsumoto, 2019, Brain and Development.

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.

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.

A missense mutation in domain III in HSPG2 in Schwartz–Jampel syndrome compromises secretion of perlecan into the extracellular space

A. Masuda, K. Ohno, H. Osaka, 2015, Neuromuscular Disorders.

Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene

H. Osaka, H. Harashima, Yuma Yamada, 2020, Scientific Reports.

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2014, Neurology.

The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy mice.

Hitoshi Osaka, R. Ribchester, T. Gillingwater, 2004, Brain : a journal of neurology.

Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome

K. Yamakawa, H. Osaka, K. Haginoya, 2010, Human mutation.

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation

N. Matsumoto, H. Osaka, H. Saitsu, 2018, Brain and Development.

Serum and cerebrospinal fluid cytokines in children with acute encephalopathy

H. Osaka, Y. Monden, T. Yamagata, 2019, Brain and Development.

A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation

Y. Sakakihara, A. Oka, H. Osaka, 1998, Journal of Inherited Metabolic Disease.

Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease

H. Osaka, S. Koizume, Y. Miyagi, 2006, Neuroscience.

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Epilepsia.

Nicotinic acetylcholine receptor distribution in relation to spinal neurotransmission pathways

T. Deerinck, P. Taylor, T. Yaksh, 2003, The Journal of comparative neurology.

Intellectual disability and microcephaly associated with a novel CHAMP1 mutation

N. Matsumoto, H. Osaka, T. Mizuguchi, 2021, Human genome variation.

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

N. Matsumoto, Y. Eto, N. Miyake, 2013, neurogenetics.

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

K. Yokochi, K. Misawa, C. Kim, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia

N. Matsumoto, H. Osaka, Toshifumi Suzuki, 2017, Journal of the Neurological Sciences.

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

N. Matsumoto, Y. Eto, N. Miyake, 2013, neurogenetics.

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

K. Yamakawa, S. Fujimoto, T. Tatsukawa, 2022, Scientific Reports.

Pathophysiology and emerging therapeutic strategies in Pelizaeus–Merzbacher disease

H. Osaka, Ken Inoue, 2015 .

5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant

H. Osaka, K. Kurosawa, A. Takagi, 2011, Brain and Development.

Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation

H. Osaka, K. Kurosawa, J. Nagai, 2010, Brain and Development.

Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.

H. Osaka, K. Kosaka, C. Kawanishi, 1995, Biochemical and biophysical research communications.

A case of cerebral hypomyelination with spondylo‐epi‐metaphyseal dysplasia

N. Matsumoto, K. Kagitani-Shimono, M. Taniike, 2013, American journal of medical genetics. Part A.

Discrepancy between auditory brainstem responses, auditory steady-state responses, and auditory behavior in two patients with Pelizaeus-Merzbacher disease.

K. Kaga, H. Osaka, K. Kurosawa, 2008, Auris, nasus, larynx.

A new restriction-site polymorphism in the human proteolipid protein gene.

H. Osaka, K. Kosaka, C. Kawanishi, 2008, Clinical genetics.

Pelizaeus‐Merzbacher disease: A novel mutation in the 5′‐untranslated region of the proteolipid protein gene

H. Osaka, Kyoko Suzuki, K. Kosaka, 1996, Human mutation.

Praxis-induced reflex seizures in two Japanese cases with ring chromosome 20 syndrome.

H. Osaka, T. Yamagata, M. Goto, 2020, Epileptic disorders : international epilepsy journal with videotape.

Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome.

H. Osaka, Hiroko Hayakawa, T. Yamagata, 2023, Molecular genetics and metabolism reports.

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.

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

T. Obata, H. Osaka, K. Kurosawa, 2010, Journal of Inherited Metabolic Disease.

Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2.

Leo Gotoh, H. Osaka, S. Takashima, 2013, Pediatric neurology.

Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy

H. Osaka, H. Saitsu, M. Nakashima, 2020, 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.

Mitochonic Acid 5 (MA-5), a Derivative of the Plant Hormone Indole-3-Acetic Acid, Improves Survival of Fibroblasts from Patients with Mitochondrial Diseases.

T. Abe, S. Ito, Ken-ichiro Hayashi, 2015, The Tohoku journal of experimental medicine.

Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD)

J. Takanashi, T. Shiihara, H. Tada, 2015, Journal of the Neurological Sciences.

Proteomic analysis of brain proteins in the gracile axonal dystrophy (gad) mouse, a syndrome that emanates from dysfunctional ubiquitin carboxyl‐terminal hydrolase L‐1, reveals oxidation of key proteins

D. Butterfield, J. Klein, V. Thongboonkerd, 2004, Journal of neurochemistry.

Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants.

T. Hirokawa, K. Wada, Taiju Amano, 2003, Biochemical and biophysical research communications.

[The ubiquitin-proteasome system and neurodegeneration].

K. Wada, H. Osaka, S. Aoki, 2001, Rinsho shinkeigaku = Clinical neurology.

Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations

A. Barkovich, J. Takanashi, H. Mori, 2014, Brain and Development.

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

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

[Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid].

K. Nakatani, H. Osaka, H. Tomimoto, 2014, Rinsho shinkeigaku = Clinical neurology.

Symmetrical External Capsule Lesions in a Patient with Herpes Simplex Encephalitis

H. Osaka, A. Nezu, S. Kimura, 1994, Neuropediatrics.

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.

A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract

I. Nonaka, H. Osaka, S. Okahashi, 2011, Journal of the Neurological Sciences.

The magnetic resonance imaging spectrum of Pelizaeus–Merzbacher disease: A multicenter study of 19 patients

K. Yokochi, H. Matsuda, J. Takanashi, 2016, Brain and Development.

HIF2α-Sp1 interaction mediates a deacetylation-dependent FVII-gene activation under hypoxic conditions in ovarian cancer cells

Y. Miyagi, E. Miyagi, F. Hirahara, 2012, Nucleic acids research.

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.

Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron.

Kaori Nishikawa, Takayuki Harada, Rieko Setsuie, 2003, Human molecular genetics.

Proton MR spectroscopy in Pelizaeus-Merzbacher disease.

J. Takanashi, H. Osaka, K. Sugita, 1997, AJNR. American journal of neuroradiology.

Potentiation of ATP‐induced currents due to the activation of P2X receptors by ubiquitin carboxy‐terminal hydrolase L1

K. Wada, Taiju Amano, H. Osaka, 2005, Journal of neurochemistry.

Valine metabolites analysis in ECHS1 deficiency

N. Matsumoto, N. Miyake, H. Osaka, 2021, Molecular genetics and metabolism reports.

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: molecular genetic analysis and family study

T. Hanihara, H. Osaka, S. Kawamoto, 1993, Journal of the Neurological Sciences.

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.

Proteomic and histochemical analysis of proteins involved in the dying-back-type of axonal degeneration in the gracile axonal dystrophy (gad) mouse

A. Sawa, K. Wada, H. Osaka, 2009, Neurochemistry International.

Accumulation of β- and γ-synucleins in the ubiquitin carboxyl-terminal hydrolase L1-deficient gad mouse

Rieko Setsuie, Hitoshi Osaka, Jungkee Kwon, 2004, Brain Research.

Accumulation of beta- and gamma-synucleins in the ubiquitin carboxyl-terminal hydrolase L1-deficient gad mouse.

K. Wada, J. Kwon, H. Osaka, 2004, Brain research.

A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition

N. Matsumoto, H. Osaka, H. Saitsu, 2016, Brain and Development.

Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype

N. Matsumoto, N. Miyake, N. Okamoto, 2021, Brain and Development.

Acute Mitochondrial Encephalopathy

H. Osaka, 2018 .

De novo DNM1 mutations in two cases of epileptic encephalopathy

N. Matsumoto, M. Shiina, K. Ogata, 2016, Epilepsia.

Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation

Y. Okazaki, H. Osaka, Y. Kishita, 2018, Brain and Development.

Japanese Leigh syndrome case treated with EPI-743

M. Klein, H. Osaka, K. Murayama, 2018, Brain and Development.

Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency

I. Yokota, J. Matsuda, T. Saijo, 1997, Journal of Inherited Metabolic Disease.

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy

N. Matsumoto, A. Yamashita, N. Miyake, 2014, Journal of Human Genetics.

Two cases of glutaric aciduria type 1: Clinical and neuropathological findings

H. Osaka, A. Nezu, S. Kimura, 1994, Journal of the Neurological Sciences.

Mutational and functional analysis of Glucose transporter I deficiency syndrome.

H. Osaka, S. Muramatsu, T. Yamagata, 2015, Molecular genetics and metabolism.

WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction

H. Osaka, S. Muramatsu, T. Yamagata, 2022, Brain communications.

Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome

Mika Ito, T. Terasaki, H. Osaka, 2017, Molecular genetics and metabolism reports.

A Child with Three Episodes of Reversible Splenial Lesion

J. Takanashi, H. Osaka, N. Aida, 2012, Neuropediatrics.

A Duplicated PLPGeneCausing Pelizaeus-Merzbacher Disease Detected byComparative Multiplex PCR

H. Osaka, C. Kawanishi, S. Kimura, 1996 .

Research report Accumulation of h- and g-synucleins in the ubiquitin carboxyl-terminal hydrolase L1-deficient gad mouse

K. Wada, J. Kwon, H. Osaka, 2004 .

Strategic validation of variants of uncertain significance in ECHS1 genetic testing

K. Nitta, H. Osaka, Y. Kishita, 2022, Journal of Medical Genetics.

HIF2a-Sp1 interaction mediates a deacetylation-dependent FVII-gene activation under hypoxic conditions in ovarian cancer cells

Y. Miyagi, E. Miyagi, F. Hirahara, 2012 .

Orientation of α-Neurotoxin at the Subunit Interfaces of the Nicotinic Acetylcholine Receptor†

P. Taylor, S. Sine, H. Osaka, 2000 .

Pairwise Electrostatic Interactions between α-Neurotoxins and γ, δ, and ε Subunits of the Nicotinic Acetylcholine Receptor*

P. Taylor, S. Sine, H. Osaka, 2000, The Journal of Biological Chemistry.

Subunit Interface Selectivity of the α-Neurotoxins for the Nicotinic Acetylcholine Receptor*

S. Sine, H. Osaka, S. Malany, 1999, The Journal of Biological Chemistry.

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

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

Molecular diagnosis of 405 individuals with autism spectrum disorder

T. Hara, T. Matsuishi, A. Fattal-Valevski, 2023, European journal of human genetics : EJHG.

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2011, Journal of Medical Genetics.

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

N. Matsumoto, T. Kinoshita, N. Miyake, 2014, Epilepsia.

MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene

H. Osaka, Toshiyuki Yamamoto, T. Yamagata, 2021, Human genome variation.

Magnetic stimulation of the corticospinal tracts in Pelizaeus-Merzbacher disease.

H. Osaka, S. Takeshita, S. Kimura, 1998, Electroencephalography and clinical neurophysiology.

Cloning, expression, and mapping of a mouse gene, Uchl4, highly homologous to human and mouse Uchl3.

Y L Wang, K. Wada, Y. Osawa, 2001, Biochemical and biophysical research communications.

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP

H. Osaka, Ayumi Matsumoto, M. Namekawa, 2018, Brain and Development.

Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes

R. Takahashi, T. Era, H. Inoue, 2016, Acta neuropathologica communications.

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

N. Matsumoto, M. Shiina, K. Ogata, 2014, Human Genetics.

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit‐Robo Rho GTPase activating protein 2 (SRGAP2)

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, American journal of medical genetics. Part A.

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

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

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.

Erratum to: Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes

T. Era, H. Inoue, H. Osaka, 2016, Journal of the Neurological Sciences.

Early distribution of18 F‐labeled AAV9 vectors in the cerebrospinal fluid after intracerebroventricular or intracisternal magna infusion in non‐human primates

K. Kawai, Takeshi Nakajima, N. Harada, 2022, Journal of Gene Medicine.

Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1

Takeshi Nakajima, Mika Ito, H. Osaka, 2020, Gene Therapy.

New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease.

T. Hanihara, H. Osaka, C. Kawanishi, 1995, Human mutation.

Mval polymorphism in the proteolipid protein (PLP) gene

H. Osaka, Kyoko Suzuki, K. Kosaka, 1995, Human Genetics.

Pelizaeus-Merzbacher-like disease: female case report

H. Osaka, C. Kawanishi, Ken Inoue, 1996, Brain and Development.

Case report Pelizaeus-Merzbacher-like disease: female case report

H. Osaka, C. Kawanishi, Ken Inoue, 1996 .

Gallbladder cancer with ascites in a child with metachromatic leukodystrophy

S. Ono, E. Nanba, H. Osaka, 2020, Brain and Development.

Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings

H. Osaka, A. Ohtake, K. Murayama, 2020, Brain & development (Tokyo. 1979).

Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome

K. Yamakawa, H. Osaka, Hiroko Shimbo, 2015, Brain and Development.

Gene therapy for Glut1‐deficient mouse using an adeno‐associated virus vector with the human intrinsic GLUT1 promoter

Mika Ito, T. Terasaki, H. Osaka, 2018, The journal of gene medicine.

Solo/Trio8, a Membrane-Associated Short Isoform of Trio, Modulates Endosome Dynamics andNeurite Elongation

K. Wada, Y. Kudo, H. Osaka, 2006, Molecular and Cellular Biology.

COVID-19 pathogenesis involving B cells and serum cytokines: A case report of hereditary bone marrow failure

Takanori, H. Osaka, M. Shinjoh, 2023 .

Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia

H. Osaka, Hiroko Shimbo, T. Yamagata, 2018, Human Genome Variation.

A case of severe movement disorder with GNAO1 mutation responsive to topiramate

N. Matsumoto, N. Miyake, R. Fukai, 2017, Brain and Development.

Depressive disorder due to mitochondrial transfer RNALeu(UUR) mutation

T. Hanihara, H. Osaka, K. Kosaka, 1997, Biological Psychiatry.

Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency

H. Osaka, M. Arai, 2011, Epilepsia.

A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy

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

Toxins selective for subunit interfaces as probes of nicotinic acetylcholine receptor structure

J. McArdle, I. Tsigelny, P. Taylor, 1998, Journal of Physiology-Paris.

Residues at the subunit interfaces of the nicotinic acetylcholine receptor that contribute to alpha-conotoxin M1 binding.

P. Taylor, S. Sine, H. Osaka, 1998, Molecular pharmacology.

Subunit interface selective toxins as probes of nicotinic acetylcholine receptor structure

I. Tsigelny, P. Taylor, H. Osaka, 2016, Pflügers Archiv - European Journal of Physiology.

CUX2 mutations in temporal lobe epilepsy; increased kainate susceptibility and excitatory input to hippocampus in deficient mice

K. Yamakawa, S. Fujimoto, T. Tatsukawa, 2021 .

Impact of the omicron phase on a highly advanced medical facility in Japan

H. Osaka, T. Yamagata, T. Tajima, 2023, Frontiers in pediatrics.

Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy

M. Frith, K. Misawa, N. Matsumoto, 2023, Life Science Alliance.

WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction

H. Osaka, S. Muramatsu, T. Yamagata, 2022, Brain communications.

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

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

Miglustat therapy in a case of early-infantile Niemann-Pick type C

E. Nanba, Shinji Itamura, H. Osaka, 2017, Brain and Development.

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.

258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Marni J. Falk, H. Prokisch, A. Rötig, 2023, Neuromuscular Disorders.

Acute Encephalopathy in a Patient with Dravet Syndrome

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

[MELAS associated with diabetes mellitus and point mutation in mitochondrial DNA].

T. Hanihara, H. Osaka, S. Kawamoto, 1992, No to shinkei = Brain and nerve.

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

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

Acute encephalopathy in two cases with severe congenital hydrocephalus

H. Osaka, J. Fujimoto, Takuya Hayashi, 2011, Brain and Development.

Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes

H. Okano, S. Yamanaka, Kazutoshi Takahashi, 2015, Stem Cell Reports.

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.

A case of anti-NMDAR encephalitis presented hypotensive shock during plasma exchange

H. Osaka, Y. Monden, T. Yamagata, 2016, Brain & development (Tokyo. 1979).

Mitochonic Acid 5 (MA-5), a Derivative of the Plant Hormone Indole-3-Acetic Acid, Improves Survival of Fibroblasts from Patients with Mitochondrial Diseases.

T. Abe, S. Ito, Ken-ichiro Hayashi, 2015, The Tohoku journal of experimental medicine.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

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

Survey on children with cerebral palsy in Tochigi Prefecture, Japan

H. Osaka, H. Shimoizumi, Yasuki Kobayashi, 2020, Pediatrics international : official journal of the Japan Pediatric Society.

Effect of digitalis on conduction dysfunction in Pelizaeus-Merzbacher disease

H. Osaka, A. Nezu, S. Kimura, 1996, Journal of the Neurological Sciences.

5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant

H. Osaka, K. Kurosawa, A. Takagi, 2011, Brain and Development.

De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy

Y. Wada, N. Matsumoto, Y. Maegaki, 2013, Human mutation.

Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia

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

Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency

K. Kawai, Takeshi Nakajima, Mitsuhiro Kato, 2021, Brain communications.