Search details
1.
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.
Cell
; 175(4): 1045-1058.e16, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30388443
2.
Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech.
Cell Mol Life Sci
; 81(1): 129, 2024 Mar 12.
Article
in English
| MEDLINE | ID: mdl-38472514
3.
Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.
Hum Mol Genet
; 29(14): 2325-2336, 2020 08 11.
Article
in English
| MEDLINE | ID: mdl-32543656
4.
Pregnancy outcomes in patients with congenital myasthenic syndromes.
Muscle Nerve
; 66(3): 345-348, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35661384
5.
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.
Article
in English
| MEDLINE | ID: mdl-31570625
6.
Antagonistic postsynaptic and presynaptic actions of cyclohexanol on neuromuscular synaptic transmission and function.
J Physiol
; 599(24): 5417-5449, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34748643
7.
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.
Article
in English
| MEDLINE | ID: mdl-31765060
8.
Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs.
J Neurol Neurosurg Psychiatry
; 91(5): 526-532, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32165373
9.
ß2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure.
Brain
; 142(12): 3713-3727, 2019 12 01.
Article
in English
| MEDLINE | ID: mdl-31633155
10.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Brain
; 142(6): 1547-1560, 2019 06 01.
Article
in English
| MEDLINE | ID: mdl-31081514
11.
Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell line.
J Physiol
; 597(14): 3713-3725, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31158924
12.
The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.
Curr Opin Neurol
; 32(5): 696-703, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31361628
13.
Multiple roles of integrin-α3 at the neuromuscular junction.
J Cell Sci
; 130(10): 1772-1784, 2017 05 15.
Article
in English
| MEDLINE | ID: mdl-28386022
14.
Congenital myasthenic syndromes.
Pract Neurol
; 24(3): 185-187, 2024 May 29.
Article
in English
| MEDLINE | ID: mdl-38631903
15.
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.
Article
in English
| MEDLINE | ID: mdl-26626625
16.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 89(7): 762-768, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29437916
17.
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Int J Mol Sci
; 19(6)2018 Jun 05.
Article
in English
| MEDLINE | ID: mdl-29874875
18.
Silencing of Dok-7 in Adult Rat Muscle Increases Susceptibility to Passive Transfer Myasthenia Gravis.
Am J Pathol
; 186(10): 2559-68, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27658713
19.
Congenital myasthenic syndromes: recent advances.
Curr Opin Neurol
; 29(5): 565-71, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27472506
20.
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
J Neurol Neurosurg Psychiatry
; 87(8): 802-9, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27147698