Detalhe da pesquisa
1.
Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation.
Proc Natl Acad Sci U S A
; 116(42): 21228-21235, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570625
2.
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Hum Mutat
; 41(3): 619-631, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31765060
3.
ß2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure.
Brain
; 142(12): 3713-3727, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633155
4.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Brain
; 142(6): 1547-1560, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31081514
5.
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Am J Hum Genet
; 97(6): 878-85, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26626625
6.
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Int J Mol Sci
; 19(6)2018 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29874875
7.
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
J Neurol Neurosurg Psychiatry
; 87(8): 802-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27147698
8.
Muscle magnetic resonance imaging in congenital myasthenic syndromes.
Muscle Nerve
; 54(2): 211-9, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789134
9.
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Brain
; 138(Pt 9): 2493-504, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26133662
10.
Congenital myasthenic syndromes and the neuromuscular junction.
Curr Opin Neurol
; 27(5): 566-75, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25159927
11.
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Neuromuscul Disord
; 33(2): 161-168, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36634413
12.
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Neuromuscul Disord
; 31(1): 21-28, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33250374
13.
The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis.
Front Mol Neurosci
; 13: 610964, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33343299
14.
Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission.
Brain Commun
; 2(2): fcaa174, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33215087
15.
SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody.
Neurol Neuroimmunol Neuroinflamm
; 7(1)2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31831571
16.
260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands.
Neuromuscul Disord
; 33(9): 111-118, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36609117
17.
Myasthenic syndromes due to defects in COL13A1 and in the N-linked glycosylation pathway.
Ann N Y Acad Sci
; 1413(1): 163-169, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29363764
18.
Serological and experimental studies in different forms of myasthenia gravis.
Ann N Y Acad Sci
; 1413(1): 143-153, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29377162
19.
Long-term Thalamic Deep Brain Stimulation for Essential Tremor: Clinical Outcome and Stimulation Parameters.
Mov Disord Clin Pract
; 3(6): 567-572, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-30363558
20.
Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes.
Neurology
; 85(12): 1043-7, 2015 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26296515