Detalhe da pesquisa
1.
PIEZO2 in somatosensory neurons controls gastrointestinal transit.
Cell
; 186(16): 3386-3399.e15, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541196
2.
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
3.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Am J Hum Genet
; 110(6): 989-997, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37167966
4.
PIEZO2 in sensory neurons and urothelial cells coordinates urination.
Nature
; 588(7837): 290-295, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057202
5.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Genet Med
; 26(2): 101023, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37947183
6.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Genet Med
; 25(8): 100856, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092537
7.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
J Med Genet
; 59(11): 1069-1074, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393337
8.
A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment.
J Neurol Neurosurg Psychiatry
; 93(12): 1276-1288, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190933
9.
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.
Brain
; 144(10): 3239-3250, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114613
10.
Ethical challenges for a new generation of early-phase pediatric gene therapy trials.
Genet Med
; 23(11): 2057-2066, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234300
11.
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
Brain
; 141(3): 662-672, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29351582
12.
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Hum Mutat
; 36(12): 1159-63, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26310427
13.
Utility of neuromuscular ultrasound for electromyographic needle localization within diseased muscle.
Muscle Nerve
; 60(6): E38-E40, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31498902
14.
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.
HGG Adv
; 5(2): 100274, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38358893
15.
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
EBioMedicine
; 99: 104894, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38086156
16.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
17.
261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands.
Neuromuscul Disord
; 33(11): 884-896, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37919208
18.
PIEZO2 and perineal mechanosensation are essential for sexual function.
Science
; 381(6660): 906-910, 2023 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37616369
19.
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Lancet Neurol
; 22(12): 1125-1139, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977713
20.
PIEZO2-dependent rapid pain system in humans and mice.
bioRxiv
; 2023 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168273