Detalhe da pesquisa
1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541188
2.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Hum Mol Genet
; 29(2): 320-334, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915823
3.
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Am J Hum Genet
; 103(1): 144-153, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961568
4.
Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling.
Neurobiol Dis
; 145: 105043, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32798727
5.
Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs.
Hum Mol Genet
; 27(23): 3999-4011, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30102380
6.
Adenosine A1 Receptor Suppresses Tonic GABAA Receptor Currents in Hippocampal Pyramidal Cells and in a Defined Subpopulation of Interneurons.
Cereb Cortex
; 26(3): 1081-95, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25452570
7.
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
Muscle Nerve
; 44(1): 102-8, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21674524
8.
Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission.
J Inherit Metab Dis
; 34(2): 523-8, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21229320
9.
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Mol Genet Genomic Med
; 8(7): e1106, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32347641
10.
Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells.
Biotechnol J
; 10(10): 1578-88, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123315
11.
Atypical phenotype in two patients with LAMA2 mutations.
Neuromuscul Disord
; 24(5): 419-24, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24534542
12.
AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria.
Neurol Genet
; 4(5): e273, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30283821
13.
Undetectable levels of CSF amyloid-ß peptide in a patient with 17ß-hydroxysteroid dehydrogenase deficiency.
J Alzheimers Dis
; 27(2): 253-7, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21841256