Detalhe da pesquisa
1.
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Hum Mol Genet
; 31(6): 929-941, 2022 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622282
2.
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
Cell Tissue Res
; 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38502237
3.
Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation.
Neurobiol Dis
; 180: 106093, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36948260
4.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
5.
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review.
Mol Genet Metab
; 139(2): 107588, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149991
6.
Metabolic control and clinical outcome in adolescents with phenylketonuria.
Mol Genet Metab
; 140(3): 107684, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37672857
7.
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria.
Mol Genet Metab
; 140(3): 107666, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549444
8.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
J Inherit Metab Dis
; 2023 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402126
9.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452721
10.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
11.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34675124
12.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085948
13.
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Hum Mutat
; 43(1): 67-73, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747546
14.
Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications.
Mol Genet Metab
; 135(1): 3-14, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34996714
15.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054588
16.
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
Cerebellum
; 21(6): 1144-1150, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34846692
17.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Am J Med Genet A
; 188(2): 522-533, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713950
18.
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders.
J Neural Transm (Vienna)
; 129(8): 1011-1021, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35829818
19.
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Brain
; 144(10): 3020-3035, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33964137
20.
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Brain
; 144(5): 1435-1450, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33880529