Search details
1.
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clin Genet
; 2024 Feb 29.
Article
in English
| MEDLINE | ID: mdl-38424388
2.
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
J Med Genet
; 59(5): 505-510, 2022 05.
Article
in English
| MEDLINE | ID: mdl-33811134
3.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34748075
4.
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Am J Hum Genet
; 105(6): 1237-1253, 2019 12 05.
Article
in English
| MEDLINE | ID: mdl-31785787
5.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35499524
6.
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
Mov Disord
; 37(6): 1294-1298, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35384065
7.
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord
; 37(7): 1547-1554, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35722775
8.
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
Eur J Neurol
; 29(11): 3229-3242, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36200804
9.
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Epilepsy Behav
; 126: 108471, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34915430
10.
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Clin Genet
; 100(5): 628-633, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34415064
11.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33415748
12.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Article
in English
| MEDLINE | ID: mdl-33150406
13.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Hum Mutat
; 41(1): 69-80, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31513310
14.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat
; 41(4): 837-849, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31898846
15.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Hum Mutat
; 40(10): 1713-1730, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31050087
16.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Genet Med
; 21(3): 553-563, 2019 03.
Article
in English
| MEDLINE | ID: mdl-29997391
17.
Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Epilepsia
; 60(5): 845-856, 2019 05.
Article
in English
| MEDLINE | ID: mdl-31026061
18.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Hum Genet
; 137(9): 753-768, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-30167850
19.
Defining the phenotypic spectrum of SLC6A1 mutations.
Epilepsia
; 59(2): 389-402, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29315614
20.
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.
Brain
; 140(10): 2550-2556, 2017 Oct 01.
Article
in English
| MEDLINE | ID: mdl-28969374