Detalhe da pesquisa
1.
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
N Engl J Med
; 390(12): 1092-1104, 2024 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38507752
2.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Muscle Nerve
; 68(2): 157-170, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409780
3.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Brain
; 145(2): 596-606, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515763
4.
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Hum Mutat
; 43(4): 511-528, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165973
5.
Hip Pain in Patients With Spinal Muscular Atrophy: Prevalence, Intensity, Interference, and Factors Associated With Moderate to Severe Pain.
J Pediatr Orthop
; 42(5): 273-279, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35153285
6.
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.
Neurogenetics
; 22(1): 53-64, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415588
7.
The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases.
Mol Syst Biol
; 16(12): e9701, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33438800
8.
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
J Neurol Neurosurg Psychiatry
; 92(11): 1186-1196, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34103343
9.
Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study.
Muscle Nerve
; 63(5): 668-677, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33501671
10.
Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.
J Pediatr Hematol Oncol
; 43(1): e138-e140, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31743320
11.
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
Muscle Nerve
; 57(5): 749-755, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28981955
12.
Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.
Muscle Nerve
; 57(2): 193-199, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28833236
13.
Astrocytes influence the severity of spinal muscular atrophy.
Hum Mol Genet
; 24(14): 4094-102, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25911676
14.
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.
Ann Neurol
; 80(4): 633-7, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27463701
15.
Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy.
J Neurosci
; 35(15): 6038-50, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25878277
16.
Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia.
Dev Med Child Neurol
; 58(10): 1069-75, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27214374
17.
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Hum Mutat
; 36(1): 48-56, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25204870
18.
Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives.
Brain
; 137(Pt 6): 1753-61, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24747834
19.
Motor and cognitive delay in Duchenne muscular dystrophy: implication for early diagnosis.
J Pediatr
; 165(5): 1008-10, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25149498
20.
SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.
Muscle Nerve
; 49(2): 187-92, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23681940