Detalhe da pesquisa
1.
Neuronal Cav3 channelopathies: recent progress and perspectives.
Pflugers Arch
; 472(7): 831-844, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32638069
2.
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
3.
Skeletal muscle sodium channelopathies.
Curr Opin Neurol
; 28(5): 508-14, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26285000
4.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Brain
; 137(Pt 9): 2429-43, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951643
5.
[Congenital myasthenic syndromes; French experience]. / Syndromes myasthéniques congénitaux - L'expérience française.
Bull Acad Natl Med
; 198(2): 257-70; discussion 270-1, 2014 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-26263703
6.
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Eur J Hum Genet
; 32(2): 224-231, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38097767
7.
Congenital myasthenic syndromes: an update.
Curr Opin Neurol
; 26(5): 561-8, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23995276
8.
A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.
Am J Pathol
; 180(5): 2040-55, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22449950
9.
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice.
Front Cell Neurosci
; 17: 1155929, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138765
10.
Effect of locomotor training on muscle performance in the context of nerve-muscle communication dysfunction.
Muscle Nerve
; 45(4): 567-77, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22431091
11.
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Front Pharmacol
; 12: 751095, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34671263
12.
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.
Hum Mol Genet
; 17(20): 3166-79, 2008 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18647752
13.
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
Neurology
; 94(13): e1378-e1385, 2020 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32123049
14.
Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.
J Cell Biol
; 161(3): 571-82, 2003 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-12743106
15.
The molecular bases of spinal muscular atrophy.
Curr Opin Genet Dev
; 12(3): 294-8, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12076672
16.
The multiple faces of the ATP1A3-related dystonic movement disorder.
Mov Disord
; 28(10): 1457-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23483595
17.
A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.
Sci Rep
; 8(1): 16681, 2018 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420713
18.
Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.
Sci Rep
; 8(1): 2041, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29391559
19.
Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.
J Neuromuscul Dis
; 4(4): 269-284, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29125502
20.
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
J Neurol
; 264(8): 1791-1803, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28712002