Detalhe da pesquisa
1.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
2.
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.
Prenat Diagn
; 44(1): 35-48, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165124
3.
Health care management adequacy among French persons with severe profound intellectual and multiple disabilities: a longitudinal study.
BMC Health Serv Res
; 24(1): 99, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238747
4.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553196
5.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
6.
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS Genet
; 14(5): e1007386, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29768408
7.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat
; 41(4): 837-849, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898846
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513310
9.
Effects of sphingolipids overload on red blood cell properties in Gaucher disease.
J Cell Mol Med
; 24(17): 9726-9736, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32767726
10.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Epilepsia
; 61(11): 2461-2473, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954514
11.
Semaphorin 7A: A novel marker of disease activity in Gaucher disease.
Am J Hematol
; 95(5): 483-491, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31990411
12.
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.
Brain
; 142(10): 2996-3008, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31532509
13.
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
Int J Mol Sci
; 21(4)2020 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32069933
14.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997391
15.
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Hum Mutat
; 39(1): 23-39, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29068161
16.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Hum Genet
; 136(4): 463-479, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283832
17.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 104(3): 562, 2019 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30849329
18.
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
J Pediatr
; 185: 160-166.e1, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28284480
19.
Impact of caring for patients with severe and complex disabilities on health care workers' quality of life: determinants and specificities.
Dev Med Child Neurol
; 59(7): 732-737, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28432687
20.
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.
Int J Mol Sci
; 18(2)2017 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28218669