Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38472514
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32543656
3.
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
4.
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
5.
Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs.
J Neurol Neurosurg Psychiatry
; 91(5): 526-532, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165373
6.
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
7.
Access to infertility care in a low-resource setting: bridging the gap through resident and fellow education in a New York City public hospital.
J Assist Reprod Genet
; 37(7): 1545-1552, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409983
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31158924
9.
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
10.
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
11.
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
12.
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
Hum Mol Genet
; 22(14): 2905-13, 2013 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23569079
13.
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Am J Hum Genet
; 91(1): 193-201, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22742743
14.
A comparison of pregnancy outcomes between day 3 and day 5/6 embryo transfers: does day of embryo transfer really make a difference?
J Assist Reprod Genet
; 32(2): 249-54, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25561156
15.
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Hum Mol Genet
; 21(17): 3765-75, 2012 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22661499
16.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Am J Hum Genet
; 88(2): 162-72, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310273
17.
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Brain
; 136(Pt 3): 944-56, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23404334
18.
A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
Brain
; 135(Pt 4): 1070-80, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22382357
19.
IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation.
Neurol Neuroimmunol Neuroinflamm
; 10(6)2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37582613
20.
Identification of "ever-cropped" land (1984-2010) using Landsat annual maximum NDVI image composites: Southwestern Kansas case study.
Remote Sens Environ
; 121: 186-195, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22423150