Search details
1.
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
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.
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
4.
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
5.
Disordered voluntary cough as freezing phenomenon in parkinsonism.
J Phys Ther Sci
; 29(3): 558-562, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28356654
6.
Accelerometer based analysis of gait initiation failure in advanced juvenile parkinsonism: a single subject study.
J Phys Ther Sci
; 28(11): 3252-3256, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27942160
7.
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
8.
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Epilepsy Behav Rep
; 15: 100417, 2021.
Article
in English
| MEDLINE | ID: mdl-33490948
9.
IVIG in childhood primary angiitis of the central nervous system: A case report.
Brain Dev
; 42(9): 675-679, 2020 Oct.
Article
in English
| MEDLINE | ID: mdl-32622763
10.
Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia.
Pediatr Neurol
; 100: 60-66, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31272782
11.
Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.
Brain Dev
; 40(7): 566-569, 2018 Aug.
Article
in English
| MEDLINE | ID: mdl-29678278
12.
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.
Parkinsonism Relat Disord
; 52: 55-61, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29653907
13.
Parkinsonian Symptomatology May Correlate with CT Findings before and after Shunting in Idiopathic Normal Pressure Hydrocephalus.
Parkinsons Dis
; 20102010 Mar 10.
Article
in English
| MEDLINE | ID: mdl-20948890
Results
1 -
13
de 13
1
Next >
>>