C. Ohba

发表

De novo GABRA1 mutations in Ohtahara and West syndromes

Naomichi Matsumoto, Mitsuhiro Kato, Akihiko Ishiyama, 2016, Epilepsia.

GRIN1 mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders

D. Lev, N. Matsumoto, M. Shiina, 2015, Epilepsia.

De novo KCNT1 mutations in early‐onset epileptic encephalopathy

T. Shiihara, N. Matsumoto, J. Azuma, 2015, Epilepsia.

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

Naomichi Matsumoto, Mitsuhiro Kato, N. Matsumoto, 2015, Scientific Reports.

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

E. Leshinsky‐Silver, D. Lev, M. Kubota, 2014, Epilepsia.

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

T. Ogata, N. Matsumoto, Y. Makita, 2015, Journal of Human Genetics.

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations

N. Matsumoto, S. Ito, N. Miyake, 2016, Journal of Human Genetics.

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.

Y. Kuroiwa, N. Matsumoto, N. Miyake, 2013, Internal medicine.

Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity

N. Matsumoto, S. Morita, M. Taguri, 2012, Journal of Human Genetics.

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing

T. Matsuishi, A. Fattal-Valevski, A. Takata, 2019, Journal of Medical 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.

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

I. Nishino, N. Matsumoto, H. Saitsu, 2017, Journal of Human Genetics.

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

N. Matsumoto, K. Ozono, N. Miyake, 2014, Journal of Human Genetics.

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies

T. Matsuishi, N. Matsumoto, N. Okamoto, 2018, Brain and Development.

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.

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

H. Tsutsumi, N. Matsumoto, H. Saitsu, 2015, Journal of Human Genetics.

Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.

H. Kitaura, A. Kakita, H. Mutoh, 2018, American journal of human genetics.

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy

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

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

A. Kakita, A. Fattal-Valevski, I. Nishino, 2016, American journal of human genetics.

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

F. Benfenati, V. Narayanan, L. Maragliano, 2018, Brain : a journal of neurology.

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb

H. Kitaura, A. Kakita, S. Kameyama, 2015, Annals of neurology.

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

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

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

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

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

H. Shiraishi, N. Matsumoto, S. Saitoh, 2016, Scientific Reports.

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

Yasuhiro Suzuki, N. Matsumoto, T. Kinoshita, 2013, neurogenetics.

Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel

Y. Ishii, N. Matsumoto, N. Miyake, 2018, Clinical genetics.

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

K. Yokochi, H. Mutoh, T. Shiihara, 2018, Annals of clinical and translational neurology.

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.

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.

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

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

De novo SHANK3 mutation causes Rett syndrome‐like phenotype in a female patient

T. Matsuishi, N. Matsumoto, H. Saitsu, 2015, American journal of medical genetics. Part A.

Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation

N. Matsumoto, H. Saitsu, M. Sasaki, 2015, Brain and Development.

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.

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations

N. Matsumoto, Tomomi Tanaka, T. Kinoshita, 2018, Brain and Development.

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy

N. Matsumoto, H. Saitsu, S. Eda, 2019, Molecular genetics & genomic medicine.

The first genetically confirmed Japanese patient with mucolipidosis type IV

N. Matsumoto, H. Saitsu, C. Ohba, 2016, Clinical case reports.

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

Yasuhiro Suzuki, N. Matsumoto, T. Kinoshita, 2014, neurogenetics.