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1.
ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.
Neuropediatrics
; 53(5): 361-365, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35863334
2.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33173220
3.
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
Mov Disord
; 36(8): 1959-1964, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33949708
4.
Reply to Letter: Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant.
Mov Disord
; 37(11): 2322, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36373940
5.
Neurodevelopmental Gene-Related Dystonia-Parkinsonism with Onset in Adults: A Case with NAA15 Variant.
Mov Disord
; 37(9): 1955-1957, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35730864
6.
Language impairment in Parkinson's disease: fMRI study of sentence reading comprehension.
Front Aging Neurosci
; 15: 1117473, 2023.
Article
in English
| MEDLINE | ID: mdl-36967818
7.
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.
Parkinsonism Relat Disord
; 102: 1-6, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35872528
8.
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
Parkinsonism Relat Disord
; 90: 73-78, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34399161
9.
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Parkinsonism Relat Disord
; 84: 129-134, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33611074
10.
Monogenic variants in dystonia: an exome-wide sequencing study.
Lancet Neurol
; 19(11): 908-918, 2020 11.
Article
in English
| MEDLINE | ID: mdl-33098801
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