关注
Elizabeth McNally
Elizabeth McNally
Center for Genetic Medicine, Northwestern University
在 northwestern.edu 的电子邮件经过验证
标题
引用次数
年份
'BETA'-sarcoglycan mutations in severe limb-girdle muscular dystrophy type 2e in brazil
CG Bonnemann, MR Passos-Bueno, EM Mcnally, M Vainzof, ES Moreira, ...
American Journal of Human Genetics 59 (4 suppl.), 1434, 1996
1996
'GAMA'-sarcoglycan mutations in lgmd 2c
EM Mcnally, CG Bonnemann, D Duggan, JRM Gorospe, ...
American Journal of Human Genetics 59 (4 suppl.), a271, 1996
1996
[31] Expression of myosin and actin in Escherichia coli
E McNally, R Sohn, S Frankel, L Leinwand
Methods in enzymology 196, 368-389, 1991
501991
1, 2 1 Department of Medicine
EM McNally
The University of Chicago, Chicago, Illinois 60637 (2), 0
29
2012 American Society for Clinical Investigation Presidential Address Advocacy: yes we can
EM McNally
The Journal of clinical investigation 122 (11), 4274-4279, 2012
32012
2022 Association of American Physicians Presidential Address Communicating as a physician-scientist
E McNally
The Journal of Clinical Investigation 132 (24), 2022
2022
2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders
WJ Groh, D Bhakta, GF Tomaselli, RG Aleong, RA Teixeira, A Amato, ...
Heart rhythm 19 (10), e61-e120, 2022
192022
204th ENMC international workshop on biomarkers in Duchenne muscular dystrophy 24–26 January 2014, Naarden, The Netherlands
A Ferlini, KM Flanigan, H Lochmuller, F Muntoni, P AC‘t Hoen, E McNally
Neuromuscular Disorders 25 (2), 184-198, 2015
292015
226th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20–22 January 2017, Heemskerk, The …
A Aartsma-Rus, A Ferlini, EM McNally, P Spitali, HL Sweeney, ...
Neuromuscular Disorders 28 (1), 77-86, 2018
172018
238th ENMC international workshop: updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November-2 December 2018
JP Bourke, M Guglieri, D Duboc, A Aartsma-Rus, A Bandali, N Bennett, ...
Neuromuscular Disorders 29 (8), 634-643, 2019
72019
24-week open label clinical trial to test safety and efficacy of oral weekly prednisone in adults with Becker (BMD) and Limb-Girdle Muscular Dystrophy (LGMD).(40)
AS Zelikovich, BC Joslin, EM McNally, S Ajroud-Driss
Neurology 96 (15 Supplement), 2021
2021
412a Monday, February 22, 2010
N Aggarwal, D Pravdic, EM Mcnally, ZJ Bosnjak, NQ Shi, JC Makielski
A conserved annexin A6–mediated membrane repair mechanism in muscle, heart, and nerve
AR Demonbreun, E Bogdanovic, LA Vaught, NL Reiser, KS Fallon, ...
JCI insight 7 (14), 2022
132022
A decade of optimizing drug development for rare neuromuscular disorders through TACT
KR Wagner, A De Luca, D Caizergues, J Dowling, N Goemans, ...
Nature Reviews Drug Discovery 19 (1), 1-2, 2020
72020
A dominant-negative mutation of delta-sarcoglycan causes cardiac disease by sequestering the sarcoglycan complex in the nucleus
A Heydemann, A Demonbreun, M Hadhazy, E McNally
CIRCULATION 110 (17), 289-289, 2004
2004
A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
AR Demonbreun, EJ Wyatt, KS Fallon, CC Oosterbaan, PG Page, ...
Disease Models & Mechanisms 13 (2), dmm040832, 2020
252020
A Genomic Link From Heart Failure to Atrial Fibrillation Risk: FOG2 Modulates a TBX5/GATA4-Dependent Atrial Gene Regulatory Network
MT Broman, RD Nadadur, C Perez-Cervantes, O Burnicka-Turek, ...
Circulation, 2024
2024
A KCNE1 missense variant (V47I) causing exercise-induced long QT syndrome (Romano Ward)
JJ Ryan, M Kalscheur, L Dellefave, E McNally, SL Archer
International Journal of Cardiology 156 (2), e33-e35, 2012
52012
A novel ferlin family member expressed in heart and skeletal muscle
DB Davis, AJ Delmonte, EM McNally
MOLECULAR BIOLOGY OF THE CELL 11, 108A-108A, 2000
2000
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex
H MacLeod, P Pytel, R Wollmann, E Chelmicka-Schorr, K Silver, ...
Neuromuscular Disorders 17 (4), 285-289, 2007
232007
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