Detalhe da pesquisa
1.
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
N Engl J Med
; 385(5): 427-435, 2021 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320287
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.
Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.
Am J Med Genet A
; 179(1): 85-93, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569586
4.
A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier.
Br J Clin Pharmacol
; 85(1): 181-193, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30302786
5.
Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome.
Proc Natl Acad Sci U S A
; 111(12): 4596-601, 2014 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24623853
6.
Haematological effects of oral administration of bitopertin, a glycine transport inhibitor, in patients with non-transfusion-dependent ß-thalassaemia.
Br J Haematol
; 194(2): 474-477, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33931857
7.
Morbidity and medication in a large population of individuals with Down syndrome compared to the general population.
Dev Med Child Neurol
; 58(3): 246-54, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26282180
8.
Copy number variation plays an important role in clinical epilepsy.
Ann Neurol
; 75(6): 943-58, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24811917
9.
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Am J Med Genet A
; 167A(9): 2017-25, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25914188
10.
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
Epilepsia
; 54(5): e81-5, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23550958
11.
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Epilepsia
; 53(8): e146-50, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22690784
12.
A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome.
J Neurodev Disord
; 14(1): 10, 2022 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35123401
13.
Safety of AADC Gene Therapy for Moderately Advanced Parkinson Disease: Three-Year Outcomes From the PD-1101 Trial.
Neurology
; 98(1): e40-e50, 2022 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34649873
14.
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome.
iScience
; 25(9): 104966, 2022 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36060065
15.
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Lancet Neurol
; 21(1): 42-52, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34942136
16.
Rett syndrome diagnostic criteria: lessons from the Natural History Study.
Ann Neurol
; 68(6): 951-5, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21104896
17.
Translational research: Rett syndrome and tuberous sclerosis complex.
Curr Opin Pediatr
; 23(6): 633-9, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21970827
18.
Spectrum of neurodevelopmental disabilities in children with cerebellar malformations.
Dev Med Child Neurol
; 53(5): 409-16, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21418200
19.
Correction to: Exploring Social Biomarkers in HighFunctioning Adults with Autism and Asperger's Versus Healthy Controls: A CrossSectional Analysis.
J Autism Dev Disord
; 50(12): 4431-4432, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367352
20.
Exploring Social Biomarkers in High-Functioning Adults with Autism and Asperger's Versus Healthy Controls: A Cross-Sectional Analysis.
J Autism Dev Disord
; 50(12): 4412-4430, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279223