Satoru Takahashi

发表

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

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

Ghrelin levels are reduced in Rett syndrome patients with eating difficulties

T. Matsuishi, Y. Nishi, K. Kangawa, 2011, International Journal of Developmental Neuroscience.

Hemidystonia, Hemichorea, and Motor Aphasia Associated With Bilateral Ischemic Lesions in the Striatum: Regional Cerebral Blood Flow Studies To Clarify the Pathophysiology

Satoru Takahashi, J. Oki, A. Miyamoto, 1998, Journal of child neurology.

A novel HECW2 variant in an infant with congenital long QT syndrome

Y. Makita, T. Kaname, K. Yanagi, 2023, Human genome variation.

Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study

S. Haga, Y. Makita, T. Kaname, 2023, Brain and Development.

CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism

H. Kurahashi, Takayoshi Koike, R. Takeguchi, 2022, Journal of the Neurological Sciences.

Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome

N. Matsumoto, H. Saitsu, S. Nabatame, 2020, Clinical case reports.

Effect of neonatal hypoxia on the development of intraspinal serotonergic fibers in relation to spinal motoneurons

K. Fujieda, Satoru Takahashi, Hajime Tanaka, 2010, Brain and Development.

Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan

K. Kagitani-Shimono, H. Oguni, J. Natsume, 2015, Brain and Development.

Molecular analysis and anticonvulsant therapy in two patients with glucose transporter 1 deficiency syndrome: A successful use of zonisamide for controlling the seizures

K. Fujieda, Aya Kajihama, Satoru Takahashi, 2008, Epilepsy Research.

Cyclic vomiting and elevation of creatine kinase associated with bitemporal hypoperfusion and EEG abnormalities: a migraine equivalent?

Satoru Takahashi, J. Oki, A. Miyamoto, 1998, Brain and Development.

Association between maternal multimorbidity and preterm birth, low birth weight and small for gestational age: a prospective birth cohort study from the Japan Environment and Children’s Study

Y. Saijo, R. Kishi, E. Yoshioka, 2023, BMJ Open.

MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome

M. Itoh, R. Takeguchi, Satoru Takahashi, 2019, Molecular genetics & genomic medicine.

Improved prefrontal activity in AD/HD children treated with atomoxetine: A NIRS study

Masanaga Ikegami, H. Azuma, Satoru Takahashi, 2015, Brain and Development.

Increased expression of matrix metalloproteinase-9 and hepatocyte growth factor in the cerebrospinal fluid of infants with posthemorrhagic hydrocephalus.

K. Fujieda, Satoru Takahashi, Eiki Nakamura, 2010, Early human development.

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

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

Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series

H. Azuma, Satoru Takahashi, S. Takahashi, 2014, Journal of Medical Case Reports.

Beta-2-microglobulin and ferritin in cerebrospinal fluid for evaluation of patients with meningitis of different etiologies

Satoru Takahashi, J. Oki, A. Miyamoto, 1999, Brain and Development.

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

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

Actigraphic assessment of sleep disorders in children with chronic fatigue syndrome

K. Fujieda, Satoru Takahashi, Hajime Tanaka, 2008, Brain and Development.

Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence

H. Azuma, Satoru Takahashi, S. Takahashi, 2015, Molecular Cytogenetics.

Comprehensive Volumetric Analysis of Mecp2-Null Mouse Model for Rett Syndrome by T2-Weighted 3D Magnetic Resonance Imaging

E. Takahashi, K. Kamagata, Yuji Komaki, 2022, Frontiers in Neuroscience.

Human milk reduces the risk of retinal detachment in extremely low‐birthweight infants

H. Sakata, Satoru Takahashi, J. Oki, 2007, Pediatrics international : official journal of the Japan Pediatric Society.

A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease

W. Pijnappel, F. Catalano, A. Bergsma, 2020, European Journal of Human Genetics.

Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.

I. Nishino, Y. Makita, T. Kaname, 2022, Journal of clinical neuromuscular disease.

The role of molecular analysis of SLC2A1 in the diagnostic workup of glucose transporter 1 deficiency syndrome

R. Takeguchi, Satoru Takahashi, Mami Kuroda, 2020, Journal of the Neurological Sciences.

Oxidative stress markers and phosphorus magnetic resonance spectroscopy in a patient with GLUT1 deficiency treated with modified Atkins diet

H. Mori, Y. Kitamura, A. Okumura, 2012, Brain and Development.

A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient.

Satoru Takahashi, H. Hatipoğlu, M. Elevli, 2019, The Turkish journal of pediatrics.

Ictal HMPAO‐Single Photon Emission Computed Tomography Findings in Reading Epilepsy in a Japanese Boy

Satoru Takahashi, J. Oki, A. Miyamoto, 1995, Epilepsia.