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Earthquake disaster footage and its effects on children: Request to the media to help protect children

Brain & development (Tokyo. 1979), 2013-03, Vol.35 (3), p.188-189

Osawa, Makiko

2013

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

Scientific reports, 2022-05, Vol.12 (1), p.6505-6505, Article 6505

2022

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Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment

Neurobiology of disease, 2013-01, Vol.49, p.29-40

2013

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Epilepsy associated with Graves’ disease: Report of two cases

SAGE open medical case reports, 2024-01, Vol.12, p.2050313X241272569

2024

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Outcome of vagus nerve stimulation for drug‐resistant epilepsy: the first three years of a prospective Japanese registry

Epileptic disorders, 2017-09, Vol.19 (3), p.327-338

2017

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A case of Turner’s syndrome with Graves’ disease and primary hyperparathyroidism

SAGE open medical case reports, 2021-11, Vol.9, p.2050313X211059002

2021

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Turner syndrome with idiopathic thrombocytopenic purpura in childhood

Pediatrics international, 2019-10, Vol.61 (10), p.1057-1058

2019

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Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan

Journal of human genetics, 2017-11, Vol.62 (11), p.945-948

2017

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Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient

PloS one, 2010-08, Vol.5 (8), p.e12239

2010

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Ketogenic diet therapy can improve ACTH-resistant West syndrome in Japan

Brain & development (Tokyo. 1979), 2015-01, Vol.37 (1), p.18-22

2015

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Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome

Epilepsia (Copenhagen), 2011-06, Vol.52 (6), p.1144-1149

2011

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Yukio Fukuyama, MD (1928–2014)

Neuromuscular disorders : NMD, 2015-01, Vol.25 (1), p.106-107

Osawa, Makiko, MD, PhD

2015

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Mortality in Dravet syndrome: Search for risk factors in Japanese patients

Epilepsia (Copenhagen), 2011-04, Vol.52 (s2), p.50-54

2011

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Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report

SAGE open medical case reports, 2023-01, Vol.11, p.2050313X231181836

2023

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A short form of gross motor function measure for Fukuyama congenital muscular dystrophy

Brain & development (Tokyo. 1979), 2020-05, Vol.42 (5), p.383-388

2020

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Study of epileptic drop attacks in symptomatic epilepsy of early childhood – Differences from those in myoclonic-astatic epilepsy

Brain & development (Tokyo. 1979), 2015-01, Vol.37 (1), p.49-58

2015

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CDKL5 alterations lead to early epileptic encephalopathy in both genders

Epilepsia (Copenhagen), 2011-10, Vol.52 (10), p.1835-1842

2011

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The gross motor function measure is valid for Fukuyama congenital muscular dystrophy

Neuromuscular disorders : NMD, 2017-01, Vol.27 (1), p.45-49

2017

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Renal dysfunction is rare in Fukuyama congenital muscular dystrophy

Brain & development (Tokyo. 1979), 2019-01, Vol.41 (1), p.43-49

2019

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Characteristic findings of skeletal muscle MRI in caveolinopathies

Neuromuscular disorders : NMD, 2018-10, Vol.28 (10), p.857-862

2018

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MECP2 duplication syndrome in both genders

Brain & development (Tokyo. 1979), 2013-05, Vol.35 (5), p.411-419

2013

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Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease

Respiratory investigation, 2019-07, Vol.57 (4), p.395-398

2019

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Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome

Brain & development (Tokyo. 1979), 2008-03, Vol.30 (3), p.226-228

2008

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Cefazolin therapy for methicillin-susceptible Staphylococcus aureus bacteremia in Japan

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy, 2014-03, Vol.20 (3), p.175-180

2014

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A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

Journal of human genetics, 2010-03, Vol.55 (3), p.155-162

2010

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Earthquake disaster footage and its effects on children: Request to the media to help protect children

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

Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment

Epilepsy associated with Graves’ disease: Report of two cases

Outcome of vagus nerve stimulation for drug‐resistant epilepsy: the first three years of a prospective Japanese registry

A case of Turner’s syndrome with Graves’ disease and primary hyperparathyroidism

Turner syndrome with idiopathic thrombocytopenic purpura in childhood

Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan

Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient

Ketogenic diet therapy can improve ACTH-resistant West syndrome in Japan

Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome

Yukio Fukuyama, MD (1928–2014)

Mortality in Dravet syndrome: Search for risk factors in Japanese patients

Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report

A short form of gross motor function measure for Fukuyama congenital muscular dystrophy

Study of epileptic drop attacks in symptomatic epilepsy of early childhood – Differences from those in myoclonic-astatic epilepsy

CDKL5 alterations lead to early epileptic encephalopathy in both genders

The gross motor function measure is valid for Fukuyama congenital muscular dystrophy

Renal dysfunction is rare in Fukuyama congenital muscular dystrophy

Characteristic findings of skeletal muscle MRI in caveolinopathies

MECP2 duplication syndrome in both genders

Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease

Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome

Cefazolin therapy for methicillin-susceptible Staphylococcus aureus bacteremia in Japan

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish

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