Detalhe da pesquisa
1.
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Hum Mol Genet;
31(17): 2934-2950, 2022 08 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35405010
2.
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
Hum Mol Genet;
30(14): 1283-1292, 2021 06 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33864376
3.
Motor function and safety after allogeneic cord blood and cord tissue-derived mesenchymal stromal cells in cerebral palsy: An open-label, randomized trial.
Dev Med Child Neurol;
64(12): 1477-1486, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35811372
4.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet;
103(2): 245-260, 2018 08 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30057031
5.
Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature.
Am J Med Genet A;
185(1): 286-299, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33073471
6.
Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.
Epilepsy Behav;
116: 107732, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33493807
7.
Cognitive and motor function in adults with spina bifida myelomeningocele: a pilot study.
Childs Nerv Syst;
37(4): 1143-1150, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33185713
8.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet;
100(2): 343-351, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28132692
9.
Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II.
Am J Med Genet A;
182(7): 1832-1845, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32338447
10.
Social impairments in alternating hemiplegia of childhood.
Dev Med Child Neurol;
62(7): 820-826, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32031250
11.
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Hum Mutat;
40(8): 1115-1126, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31264822
12.
Cognitive, adaptive, and behavioral profiles and management of alternating hemiplegia of childhood.
Dev Med Child Neurol;
61(5): 547-554, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30362107
13.
Immunotherapy in selected patients with Down syndrome disintegrative disorder.
Dev Med Child Neurol;
61(7): 847-851, 2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30548468
14.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Genet Med;
20(4): 464-469, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28914269
15.
Motor function domains in alternating hemiplegia of childhood.
Dev Med Child Neurol;
59(8): 822-828, 2017 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28543714
16.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet;
103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30193138
17.
Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood.
Eur J Paediatr Neurol;
38: 47-52, 2022 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35390560
18.
A Systematic Review of Cognitive Function in Adults with Spina Bifida.
Dev Neurorehabil;
24(8): 569-582, 2021 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33872130
19.
Sibling umbilical cord blood infusion is safe in young children with cerebral palsy.
Stem Cells Transl Med;
10(9): 1258-1265, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34085782
20.
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.
Brain Commun;
3(3): fcab128, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34396101