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1.
Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years.
Neuropediatrics
; 51(4): 298-301, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32143223
2.
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant.
Am J Med Genet A
; 194(7): e63600, 2024 Jul.
Article
in English
| MEDLINE | ID: mdl-38513146
3.
Clinical diversity caused by novel IGHMBP2 variants.
J Hum Genet
; 62(6): 599-604, 2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28202949
4.
Stimulation of dopamine D2-like receptors in the lumbosacral defaecation centre causes propulsive colorectal contractions in rats.
J Physiol
; 594(15): 4339-50, 2016 08 01.
Article
in English
| MEDLINE | ID: mdl-26999074
5.
Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation.
Pediatr Int
; 63(3): 352-354, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-33650128
6.
Pediatric fulminant malignant hyperthermia with severe electroencephalographic abnormality and brain damage: a case report.
J Med Case Rep
; 17(1): 140, 2023 Apr 16.
Article
in English
| MEDLINE | ID: mdl-37061729
7.
Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy.
Brain Dev
; 45(8): 462-466, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37453880
8.
Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.
Front Neurol
; 14: 1085228, 2023.
Article
in English
| MEDLINE | ID: mdl-37251230
9.
Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.
Mol Syndromol
; 13(3): 221-225, 2022 May.
Article
in English
| MEDLINE | ID: mdl-35707592
10.
Elevation of brain gamma-aminobutyric acid levels is associated with vigabatrin-associated brain abnormalities on magnetic resonance imaging.
Epilepsy Res
; 181: 106881, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-35183975
11.
Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy.
Brain Dev
; 43(3): 440-447, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-33277141
12.
Effect of total callosotomy on KCNQ2-related intractable epilepsy.
Brain Dev
; 42(8): 612-616, 2020 Sep.
Article
in English
| MEDLINE | ID: mdl-32532640
13.
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.
Epilepsy Behav Rep
; 13: 100349, 2020.
Article
in English
| MEDLINE | ID: mdl-31879735
14.
MRI findings in pediatric neuromyelitis optica spectrum disorder with MOG antibody: Four cases and review of the literature.
Brain Dev
; 41(4): 367-372, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30447856
15.
Long-term home non-invasive positive pressure ventilation in children: Results from a single center in Japan.
Brain Dev
; 40(7): 558-565, 2018 Aug.
Article
in English
| MEDLINE | ID: mdl-29636207
16.
Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1.
Brain Dev
; 40(2): 155-158, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-28899595
17.
The efficacy of a medium-chain triglyceride ketogenic diet for drug-resistant epilepsy with PIGA germline variant.
Seizure
; 111: 103-105, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37572404
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