Search details
1.
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7.
J Hum Genet
; 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38605133
2.
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Genet Med
; 24(12): 2453-2463, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36305856
3.
Novel CLTC variants cause new brain and kidney phenotypes.
J Hum Genet
; 67(1): 1-7, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34230591
4.
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
5.
Expansion of the phenotype of Kosaki overgrowth syndrome.
Am J Med Genet A
; 173(9): 2422-2427, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28639748
6.
WDR45 mutations in three male patients with West syndrome.
J Hum Genet
; 61(7): 653-61, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-27030146
7.
Late-onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene.
Pediatr Int
; 61(10): 1055-1056, 2019 Oct.
Article
in English
| MEDLINE | ID: mdl-31625254
8.
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
9.
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
10.
Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome.
J Neurol Sci
; 447: 120597, 2023 04 15.
Article
in English
| MEDLINE | ID: mdl-36965413
11.
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.
Mol Genet Metab
; 106(1): 43-7, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22472424
12.
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
13.
Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience.
Front Immunol
; 13: 905960, 2022.
Article
in English
| MEDLINE | ID: mdl-36211342
14.
1p36 deletion syndrome associated with Prader-Willi-like phenotype.
Pediatr Int
; 52(4): 547-50, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-20113418
15.
Clinical characteristics of children and adults with anti-N-methyl-D-aspartate receptor encephalitis.
Clin Neurol Neurosurg
; 196: 106015, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32574966
16.
Expanding the phenotype of COL4A1-related disorders-Four novel variants.
Brain Dev
; 42(9): 639-645, 2020 Oct.
Article
in English
| MEDLINE | ID: mdl-32565002
17.
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
18.
Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.
JIMD Rep
; 43: 7-12, 2019.
Article
in English
| MEDLINE | ID: mdl-29478219
19.
A case of prenatal chronic intestinal pseudo-obstruction associated with Leigh syndrome.
Clin Case Rep
; 6(8): 1474-1477, 2018 Aug.
Article
in English
| MEDLINE | ID: mdl-30147885
20.
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