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Xaviere Lornage et al.
ACTA NEUROPATHOLOGICA (2019)
UniProt: the universal protein knowledgebase (vol 45, pg D158, 2017)
Alexandre Renaux
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Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases
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Monkol Lek et al.
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Anna Kostareva et al.
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Nidhi Sahni et al.
CELL (2015)
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Yichuan Liu et al.
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Hyun Seok Hwang et al.
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Matthew E. Ritchie et al.
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Alexandre J. S. Ribeiro et al.
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Anita C. H. Murphy et al.
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Amy Pointon et al.
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The non-muscle functions of actinins: an update
Kate S. Foley et al.
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Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death
Richard D. Bagnall et al.
BMC MEDICAL GENETICS (2014)
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Euripedes de Almeida Ribeiro et al.
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Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias A Massively Parallel Sequencing Study
Francesca Girolami et al.
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Recombinase-Mediated Reprogramming and Dystrophin Gene Addition in mdx Mouse Induced Pluripotent Stem Cells
Chunli Zhao et al.
PLOS ONE (2014)
scikit-image: image processing in Python
Stefan van der Walt et al.
PEERJ (2014)
Directed cardiomyocyte differentiation from human pluripotent stem cells by modulating Wnt/beta-catenin signaling under fully defined conditions
Xiaojun Lian et al.
NATURE PROTOCOLS (2013)
A Census of Human Soluble Protein Complexes
Pierre C. Havugimana et al.
CELL (2012)
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Jingchun Yang et al.
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Stefan van der Walt et al.
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Rahima Ziane et al.
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Rebekah S. Zimmerman et al.
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Gary L. Moulder et al.
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Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy A Genome-Wide Analysis
Christine Chiu et al.
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α-Actinin2 cytoskeletal protein is required for the functional membrane localization of a Ca2+-activated K+ channel (SK2 channel)
Ling Lu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
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B. Sjoeblom et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2008)
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
A Subramanian et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
The enhancement of nuclear receptor transcriptional activation by a mouse actin-binding protein, alpha actinin 2
SM Huang et al.
JOURNAL OF MOLECULAR ENDOCRINOLOGY (2004)
Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis
B Mohapatra et al.
MOLECULAR GENETICS AND METABOLISM (2003)
SAP97 increases Kv1.5 currents through an indirect N-terminal mechanism
J Eldstrom et al.
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Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly
P Salmikangas et al.
HUMAN MOLECULAR GENETICS (2003)
Gene expression in fibroblasts and fibrosis - Involvement in cardiac hypertrophy
I Manabe et al.
CIRCULATION RESEARCH (2002)
Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies
ML Bang et al.
JOURNAL OF CELL BIOLOGY (2001)
α-Actinin-2 couples to cardiac Kv1.5 channels, regulating current density and channel localization in HEK cells
ND Maruoka et al.
FEBS LETTERS (2000)