Detalhe da pesquisa
1.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
2.
Risdiplam in Type 1 Spinal Muscular Atrophy.
N Engl J Med
; 384(10): 915-923, 2021 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33626251
3.
Invasive versus non-invasive paediatric home mechanical ventilation: review of the international evolution over the past 24 years.
Thorax
; 79(6): 581-588, 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38365452
4.
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Mov Disord
; 2024 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581205
5.
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Hum Genomics
; 17(1): 16, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36859317
6.
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.
Dev Med Child Neurol
; 65(1): 67-77, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35673937
7.
Resting-state functional brain connectivity is related to subsequent procedural learning skills in school-aged children.
Neuroimage
; 240: 118368, 2021 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34242786
8.
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Ann Neurol
; 87(2): 217-232, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794073
9.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain
; 143(9): 2696-2708, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875335
10.
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
Am J Med Genet A
; 182(11): 2685-2693, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808436
11.
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen.
Dev Med Child Neurol
; 62(3): 310-314, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799720
12.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
13.
Duplication 2p16 is associated with perisylvian polymicrogyria.
Am J Med Genet A
; 179(12): 2343-2356, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660690
14.
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
Am J Med Genet A
; 176(1): 201-208, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28960836
15.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain
; 140(5): 1316-1336, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379373
16.
Neuropsychological and neurophysiological benefits from white noise in children with and without ADHD.
Behav Brain Funct
; 12(1): 11, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26979812
17.
Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.
Dev Med Child Neurol
; 58(1): 77-84, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365034
18.
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
Genet Med
; 17(4): 291-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25122145
19.
Natural history of pulmonary function in collagen VI-related myopathies.
Brain
; 136(Pt 12): 3625-33, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24271325
20.
Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium.
Neuromuscul Disord
; 34: 61-67, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150893