megan puckelwartz
megan puckelwartz
Zweryfikowany adres z northwestern.edu
Tytuł
Cytowane przez
Cytowane przez
Rok
Genetic mutations and mechanisms in dilated cardiomyopathy
EM McNally, JR Golbus, MJ Puckelwartz
The Journal of clinical investigation 123 (1), 19-26, 2013
3752013
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice
MJ Puckelwartz, E Kessler, Y Zhang, D Hodzic, KN Randles, G Morris, ...
Human molecular genetics 18 (4), 607-620, 2009
1842009
Population-based variation in cardiomyopathy genes
JR Golbus, MJ Puckelwartz, JP Fahrenbach, LM Dellefave-Castillo, ...
Circulation: Cardiovascular Genetics 5 (4), 391-399, 2012
1442012
Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis
R Attali, N Warwar, A Israel, I Gurt, E McNally, M Puckelwartz, B Glick, ...
Human molecular genetics 18 (18), 3462-3469, 2009
1432009
Nesprin-1 mutations in human and murine cardiomyopathy
MJ Puckelwartz, EJ Kessler, G Kim, MM DeWitt, Y Zhang, JU Earley, ...
Journal of molecular and cellular cardiology 48 (4), 600-608, 2010
1332010
Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation
SK Mewborn, MJ Puckelwartz, F Abuisneineh, JP Fahrenbach, Y Zhang, ...
PloS one 5 (12), e14342, 2010
1112010
Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development
KN Randles, LT Lam, CA Sewry, M Puckelwartz, D Furling, M Wehnert, ...
Developmental dynamics: an official publication of the American Association …, 2010
862010
The genetic landscape of cardiomyopathy and its role in heart failure
EM McNally, DY Barefield, MJ Puckelwartz
Cell metabolism 21 (2), 174-182, 2015
852015
Emery–Dreifuss muscular dystrophy
M Puckelwartz
Handbook of clinical neurology 101, 155-166, 2011
692011
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis
C Zhou, C Li, B Zhou, H Sun, V Koullourou, I Holt, MJ Puckelwartz, ...
Human molecular genetics 26 (12), 2258-2276, 2017
622017
Supercomputing for the parallelization of whole genome analysis
MJ Puckelwartz, LL Pesce, V Nelakuditi, L Dellefave-Castillo, JR Golbus, ...
Bioinformatics 30 (11), 1508-1513, 2014
622014
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy
JR Golbus, MJ Puckelwartz, L Dellefave-Castillo, JP Fahrenbach, ...
Circulation: Cardiovascular Genetics 7 (6), 751-759, 2014
522014
Harmonizing clinical sequencing and interpretation for the eMERGE III network
H Zouk, E Venner, NJ Lennon, DM Muzny, D Abrams, S Adunyah, ...
The American Journal of Human Genetics 105 (3), 588-605, 2019
482019
Gene expression, chromosome position and lamin A/C mutations
MJ Puckelwartz, FFS Depreux, EM McNally
Nucleus 2 (3), 14342-29, 2011
462011
Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations
FF Depreux, MJ Puckelwartz, A Augustynowicz, D Wolfgeher, CM Labno, ...
Human molecular genetics 24 (15), 4284-4295, 2015
262015
Genetic variation in cardiomyopathy and cardiovascular disorders
EM McNally, MJ Puckelwartz
Circulation Journal 79 (7), 1409-1415, 2015
252015
Experimental modeling supports a role for MyBP-HL as a novel myofilament component in arrhythmia and dilated cardiomyopathy
DY Barefield, MJ Puckelwartz, EY Kim, LD Wilsbacher, AH Vo, EA Waters, ...
Circulation 136 (16), 1477-1491, 2017
202017
Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants
SK Viswanathan, MJ Puckelwartz, A Mehta, CJA Ramachandra, ...
JAMA cardiology 3 (6), 481-488, 2018
182018
Genetic profiling for risk reduction in human cardiovascular disease
MJ Puckelwartz, EM McNally
Genes 5 (1), 214-234, 2014
182014
Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness
Y Levy, JA Ross, M Niglas, VA Snetkov, S Lynham, CY Liao, ...
JCI insight 3 (19), 2018
112018
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