megan puckelwartz
megan puckelwartz
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Genetic mutations and mechanisms in dilated cardiomyopathy
EM McNally, JR Golbus, MJ Puckelwartz
The Journal of clinical investigation 123 (1), 19-26, 2013
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
Population-based variation in cardiomyopathy genes
JR Golbus, MJ Puckelwartz, JP Fahrenbach, LM Dellefave-Castillo, ...
Circulation: Cardiovascular Genetics 5 (4), 391-399, 2012
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
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
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
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
The genetic landscape of cardiomyopathy and its role in heart failure
EM McNally, DY Barefield, MJ Puckelwartz
Cell metabolism 21 (2), 174-182, 2015
Emery–Dreifuss muscular dystrophy
M Puckelwartz
Handbook of clinical neurology 101, 155-166, 2011
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
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
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
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
Gene expression, chromosome position and lamin A/C mutations
MJ Puckelwartz, FFS Depreux, EM McNally
Nucleus 2 (3), 14342-29, 2011
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
Genetic variation in cardiomyopathy and cardiovascular disorders
EM McNally, MJ Puckelwartz
Circulation Journal 79 (7), 1409-1415, 2015
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
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
Genetic profiling for risk reduction in human cardiovascular disease
MJ Puckelwartz, EM McNally
Genes 5 (1), 214-234, 2014
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
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