Search details
1.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Article
in English
| MEDLINE | ID: mdl-36965478
2.
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Genet Med
; 25(2): 100328, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36542086
3.
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Clin Genet
; 103(2): 209-213, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36161439
4.
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.
Neurogenetics
; 23(2): 129-135, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35147852
5.
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
6.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Ann Neurol
; 90(2): 274-284, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34185323
7.
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
J Med Genet
; 58(8): 505-513, 2021 08.
Article
in English
| MEDLINE | ID: mdl-32732225
8.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Article
in English
| MEDLINE | ID: mdl-30057029
9.
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
J Hum Genet
; 66(12): 1193-1197, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34211110
10.
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
J Hum Genet
; 66(4): 401-407, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33040083
11.
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
J Med Genet
; 56(6): 396-407, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30842224
12.
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
Ann Neurol
; 83(4): 794-806, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29534297
13.
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
Clin Genet
; 92(2): 180-187, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28177126
14.
Vagus Nerve Stimulation Therapy for Drug-Resistant Epilepsy in Children-A Literature Review.
J Clin Med
; 13(3)2024 Jan 29.
Article
in English
| MEDLINE | ID: mdl-38337474
15.
Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations.
J Neurol
; 271(6): 2948-2954, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38575756
16.
Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.
Parkinsonism Relat Disord
; 124: 107018, 2024 May 27.
Article
in English
| MEDLINE | ID: mdl-38810319
17.
A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.
Mov Disord
; 33(1): 177-179, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29165877
18.
[Current practices of transition from pediatric to adult health care for patients with neurological disease: promote the cooperation between child and adult neurologists].
Rinsho Shinkeigaku
; 63(2): 67-72, 2023 Feb 25.
Article
in Japanese
| MEDLINE | ID: mdl-36725009
19.
Focal tonic seizures with asymmetrical posturing could allow voluntary movements: A lesson to not be misled for a non-epileptic event.
Epileptic Disord
; 25(3): 416-421, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-36946254
20.
Incremental changes in interhemispheric functional connectivity after two-stage corpus callosotomy in a patient with subcortical band heterotopia.
Epilepsy Behav Rep
; 18: 100525, 2022.
Article
in English
| MEDLINE | ID: mdl-35146404