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Yuji Sugawara

Tokyo Medical and Dental University

14

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337

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De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

2019 European Journal of Human Genetics
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Citations (6)
Long-term evaluation of low-dose betamethasone for ataxia telangiectasia

2019 Pediatric Neurology
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Citations (2)
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects

2018 Brain
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Citations (13)
Iconography : Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features

2017 The Journal of Allergy and Clinical Immunology
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Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features

2017 The Journal of Allergy and Clinical Immunology
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Amelioration of intractable epilepsy by adjunct vagus nerve stimulation therapy in a girl with a CDKL5 mutation

2017 Brain & Development
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Citations (9)
Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy

2015 Seizure-european Journal of Epilepsy
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Citations (28)
PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy

2013 Epilepsy Research
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Citations (41)
Kawasaki disease complicated by mild encephalopathy with a reversible splenial lesion (MERS).

2012 Journal of the Neurological Sciences
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Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis

2007 American Journal of Medical Genetics Part A
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Citations (31)