A. Hattori

发表

Assessment of muscle involvement in patients with Duchenne muscular dystrophy via segmental multifrequency bioelectrical analysis

Takatoshi Sato, S. Kuru, T. Murakami, 2019, Neuromuscular Disorders.

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

C. Caltagirone, S. Saitoh, T. Kawarai, 2018, Parkinsonism & related disorders.

THE SEX DIFFERENCES OF CEREBROSPINAL FLUID LEVELS OF INTERLEUKIN 8 AND ANTIOXIDANTS IN ASPHYXIATED NEWBORNS

S. Fujimoto, H. Togari, I. Kato, 2007, Shock.

A novel CUL4B splice site variant in a young male exhibiting less pronounced features

T. Kawai, S. Saitoh, Y. Okuno, 2019, Human Genome Variation.

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

T. Tsunoda, T. Morio, H. Shiraishi, 2017, Scientific Reports.

Oxidative and Inflammatory Markers Are Higher in Full-Term Newborns Suffering Funisitis, and Higher Oxidative Markers Are Associated with Admission

H. Togari, I. Kato, H. Sobajima, 2022, Children.

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

S. Saitoh, H. Saitsu, M. Nakashima, 2019, Epilepsia open.

Administration of nusinersen via paramedian approach for spinal muscular atrophy

H. Kurahashi, A. Okumura, N. Wakao, 2020, Brain and Development.

Truncating mutation in NFIA causes brain malformation and urinary tract defects

T. Tsunoda, M. Yamasaki, Y. Kanemura, 2015, Human Genome Variation.

Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome

M. Kubota, M. Sasaki, K. Kurosawa, 2011, Brain and Development.

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

I. Nonaka, Y. Hayashi, I. Nishino, 2012, Neuromuscular Disorders.

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

S. Saitoh, Y. Okuno, S. Kojima, 2018, Brain and Development.

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

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

Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant

S. Saitoh, S. Ito, Kei Ohashi, 2021, Brain and Development.

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate

T. Tsunoda, M. Yamasaki, Y. Kanemura, 2017, Journal of Human Genetics.

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

N. Kurahashi, S. Saitoh, Kei Ohashi, 2018, Brain and Development.

Three-Year Longitudinal Motor Function and Disability Level of Acute Flaccid Myelitis.

H. Mori, Kenichi Tanaka, Eriko Kikuchi, 2020, Pediatric Neurology.

Clinical Features of Acute Flaccid Myelitis Temporally Associated With an Enterovirus D68 Outbreak: Results of a Nationwide Survey of Acute Flaccid Paralysis in Japan, August–December 2015

T. Shiihara, H. Mori, S. Kusunoki, 2017, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant

I. Nishino, S. Saitoh, Kei Ohashi, 2022, Brain and Development.

Prevalence and features of migraine in Japanese junior high school students aged 12–15yr

S. Fujimoto, H. Togari, Satoru Kobayashi, 2007, Brain and Development.

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction

S. Mizuno, A. Hattori, Yuji Nakamura, 2022, Journal of Human Genetics.

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations

I. Nonaka, Y. Hayashi, N. Laing, 2011, Neuromuscular Disorders.

Prenatal clinical manifestations in individuals with COL4A1/2 variants

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

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia

O. Ohara, S. Saitoh, S. Kunishima, 2018, Brain and Development.

Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome

T. Tsunoda, M. Yamasaki, Y. Kanemura, 2016, American journal of medical genetics. Part A.

A case of early‐onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy

S. Saitoh, H. Saitsu, M. Nakashima, 2019, American journal of medical genetics. Part A.

MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome

T. Tsunoda, K. Nagata, Y. Kanemura, 2018, Journal of Medical Genetics.

Splenial Lesions in Benign Convulsions With Gastroenteritis Associated With Rotavirus Infection.

S. Saitoh, H. Kurahashi, A. Okumura, 2019, Pediatric neurology.

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

S. Saitoh, K. Kosaki, Hisato Suzuki, 2020, Human Genome Variation.

CTCF deletion syndrome: clinical features and epigenetic delineation

S. Saitoh, H. Soejima, Kei Ohashi, 2017, Journal of Medical Genetics.

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

T. Tsunoda, M. Nakanishi, M. Yamasaki, 2017, BMC Medical Genetics.

Role of a heterotrimeric G‐protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability

T. Tsunoda, K. Nagata, M. Yamasaki, 2017, Journal of neurochemistry.

Short-duration ACTH therapy for cryptogenic West syndrome with better outcome.

S. Fujimoto, H. Togari, M. Hussein, 2006, Pediatric neurology.

[A boy with hypomyelination with atrophy of the basal ganglia and cerebellum].

S. Fujimoto, H. Togari, Satoru Kobayashi, 2010, No to hattatsu = Brain and development.

Fibrin sheath of a peripherally inserted central catheter undepicted with gray-scale (real-time B-mode) ultrasonography: A case report

Y. Shibamoto, M. Shimohira, M. Nakagawa, 2018, Radiology case reports.

Cytotoxic edema at onset in West syndrome of unknown etiology: A longitudinal diffusion tensor imaging study

H. Kawai, H. Kidokoro, J. Natsume, 2018, Epilepsia.

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

H. Kurahashi, T. Awaya, J. Tohyama, 2019, Seizure.

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

Keith A. Boroevich, T. Tsunoda, M. Yamasaki, 2018, Journal of Human Genetics.

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

Keith A. Boroevich, T. Tsunoda, M. Yamasaki, 2018, Journal of Human Genetics.

Cardiac vagal activation by adrenocorticotropic hormone treatment in infants with West syndrome.

S. Fujimoto, H. Togari, J. Hayano, 2007, The Tohoku journal of experimental medicine.

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome

S. Saitoh, C. Sakai, E. Takeshita, 2014, Journal of Human Genetics.

Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A

T. Tsunoda, S. Saitoh, K. Kosaki, 2021, Brain and Development.

Periventricular leukomalacia with late-onset circulatory dysfunction of premature infants: correlation with severity of magnetic resonance imaging findings and neurological outcomes.

S. Fujimoto, H. Togari, T. Okanishi, 2006, The Tohoku journal of experimental medicine.

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

T. Tsunoda, T. Morio, H. Shiraishi, 2017, Scientific Reports.

Behavioral problems and family distress in tuberous sclerosis complex

T. Shiihara, S. Saitoh, Kei Ohashi, 2020, Epilepsy & Behavior.

Semi-automatic volumetry of cortical tubers in tuberous sclerosis complex

K. Ohtomo, K. Kamiya, Y. Nakata, 2013, Japanese Journal of Radiology.

Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome

S. Nabatame, H. Kidokoro, J. Natsume, 2020, Brain and Development.

A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report

K. Tsunoda, S. Saitoh, M. Kondo, 2022, Medicine.

Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C

S. Saitoh, K. Murayama, A. Hattori, 2019, Brain and Development.

Fulminant Encephalopathy with Marked Brain Edema and Bilateral Thalamic Lesions

S. Saitoh, T. Okanishi, A. Okumura, 2013, Neuropediatrics.

A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome

S. Saitoh, Kei Ohashi, Setsuko Hasegawa, 2019, Human Genome Variation.

Brain perfusion SPECT and EEG findings in children with autism spectrum disorders and medically intractable epilepsy

M. Sasaki, E. Nakagawa, N. Sato, 2010, Brain and Development.

[Hereditary spastic paraplegia associated with congenital cataracts, mental retardation and peripheral neuropathy].

M. Sasaki, E. Nakagawa, K. Sugai, 2010, No to hattatsu = Brain and development.

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever

N. Matsumoto, S. Saitoh, M. Nakashima, 2017, Brain and Development.

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

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

Quantitative Three-Dimensional Gait Evaluation in Patients With Glucose Transporter 1 Deficiency Syndrome.

S. Nabatame, H. Kidokoro, J. Natsume, 2022, Pediatric neurology.

Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum

S. Saitoh, Y. Okuno, T. Kaname, 2019, Brain and Development.