Detalhe da pesquisa
1.
Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.
Hum Mol Genet
; 28(14): 2339-2351, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31220253
2.
The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.
Hum Mol Genet
; 27(9): 1556-1564, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29462491
3.
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Am J Med Genet A
; 182(10): 2272-2283, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776697
4.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet
; 99(3): 753-761, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569547
5.
Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment.
J Neurol
; 270(6): 3112-3119, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869887
6.
The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.
Neuropediatrics
; 48(4): 294-308, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28505670
7.
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.
J Neurol
; 267(12): 3643-3649, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32656641
8.
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.
Neuromuscul Disord
; 30(8): 661-668, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32684384
9.
Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome.
Front Mol Neurosci
; 13: 594220, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33390901
10.
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
Eur J Hum Genet
; 28(3): 373-377, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527857
11.
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
J Neurol
; 265(1): 194-203, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29189923
12.
A multi-source approach to determine SMA incidence and research ready population.
J Neurol
; 264(7): 1465-1473, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28634652
13.
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy.
J Neurol
; 264(6): 1271-1280, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550484
14.
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
J Neuromuscul Dis
; 4(4): 293-306, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29125504
15.
When ischaemia is not ischaemia.
Br J Hosp Med (Lond)
; 75(12): 714-5, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25488538