S. Fukumura

发表

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review

Y. Kawasaki, H. Saitsu, M. Nakashima, 2021, Child neurology open.

Two novel heterozygous variants in ATP1A3 cause movement disorders

H. Saitsu, M. Nakashima, Kazuo Kubota, 2022, Human Genome Variation.

Everolimus Treatment for an Early Infantile Subependymal Giant Cell Astrocytoma With Tuberous Sclerosis Complex

H. Tsutsumi, Toshihide Watanabe, S. Fukumura, 2015, Journal of child neurology.

A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay

H. Saitsu, M. Nakashima, K. Aoto, 2021, Brain and Development.

Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan

S. Tsuji, S. Morishita, H. Ishiura, 2017, European journal of neurology.

Functional recovery after the systemic administration of mesenchymal stem cells in a rat model of neonatal hypoxia-ischemia.

J. Kocsis, H. Tsutsumi, M. Sasaki, 2018, Journal of neurosurgery. Pediatrics.

Intravenous infusion of mesenchymal stem cells reduces epileptogenesis in a rat model of status epilepticus

J. Kocsis, H. Tsutsumi, M. Sasaki, 2018, Epilepsy Research.

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

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

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

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

Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells.

S. Takezaki, M. Yamada, I. Kobayashi, 2012, Gene.

An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation

H. Saitsu, M. Nakashima, S. Kumada, 2022, neurogenetics.

Rapidly progressive fatal idiopathic hypertrophic pachymeningitis with brainstem involvement in a child

H. Tsutsumi, Y. Akiyama, H. Hirano, 2018, Child's Nervous System.

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.

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 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.

Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study

H. Tsutsumi, Y. Horio, N. Tachi, 2020, Scientific Reports.

A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis

H. Tsutsumi, Mitsuhiro Kato, S. Fukumura, 2016, Child neurology open.

Sequence analysis of a feline- and porcine-origin G3P[9] rotavirus A strain in a child with acute gastroenteritis in Japan

M. Hara, Kaoru Araki, S. Fukumura, 2023, Archives of Virology.

A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease

H. Tsutsumi, M. Nagao, S. Fukumura, 2011, Brain and Development.

Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance

H. Saitsu, M. Nakashima, Akiyo Yamamoto, 2020, Brain and Development.

Near-infrared Spectroscopy-based Assessment of Ictal Cerebral Hemodynamics of a Frontal Area in Startle Epilepsy

M. Sasaki, E. Nakagawa, K. Sugai, 2012 .

Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis

I. Takamisawa, M. Sasaki, E. Nakagawa, 2012, Developmental medicine and child neurology.

Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome

Y. Okamura, M. Takahashi, R. Sasaki, 2019, Journal of the Neurological Sciences.

A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome

H. Saitsu, M. Nakashima, S. Fukumura, 2022, Brain and Development.

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

H. Takashima, Y. Okamoto, A. Yoshimura, 2023, Journal of neurology.

Paroxysmal tonic upward gaze complicating Angelman syndrome.

H. Tsutsumi, Toshihide Watanabe, S. Fukumura, 2015, Pediatric neurology.

Unrecovered synkinesis as a sequela of facial nerve palsy in Kawasaki disease.

Keishi Fujiwara, S. Fukumura, M. Saito, 2021, Pediatrics international : official journal of the Japan Pediatric Society.

Therapeutic efficacy of intravenous infusion of mesenchymal stem cells in rat perinatal brain injury

J. Kocsis, M. Sasaki, O. Honmou, 2023, Pediatric Research.

Changing Patterns of Infectious Diseases Among Hospitalized Children in Hokkaido, Japan, in the Post-COVID-19 Era, July 2019 to June 2022

Takuro Ito, T. Kizawa, R. Takeuchi, 2023, The Pediatric infectious disease journal.