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eBook
Journal Article
Journal Article
1985, 2nd ed., Major problems in neurology, ISBN 9780702010897, Volume 2, xiv, 720
Book
Brain, ISSN 0006-8950, 10/2007, Volume 130, Issue 10, pp. 2725 - 2735
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2013, Volume 93, Issue 6, pp. 1108 - 1117
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2014, Volume 46, Issue 2, pp. 188 - 193
Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling regulates aerobic metabolism, whereas pathological Ca2+ overload... 
UNIPORTER | DISEASE | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | CA2+ UPTAKE | CELL-SURVIVAL | PROTEINS | MCU | Immunohistochemistry | Calcium Channels - metabolism | Calcium Signaling - physiology | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Mitochondrial Membrane Transport Proteins - genetics | Histological Techniques | Cation Transport Proteins - metabolism | Base Sequence | Membrane Potential, Mitochondrial - genetics | Cation Transport Proteins - genetics | Quadriceps Muscle - pathology | Real-Time Polymerase Chain Reaction | Calcium-Binding Proteins - metabolism | Mitochondrial Membrane Transport Proteins - metabolism | Mitochondria - metabolism | Sequence Analysis, DNA | Exome - genetics | Phenotype | Analysis of Variance | Pedigree | Extrapyramidal Tracts - pathology | Fluorescent Antibody Technique | Polymorphism, Single Nucleotide - genetics | Learning Disorders - genetics | Movement Disorders - genetics | Muscular Diseases - genetics | Calcium Signaling - genetics | Calcium-Binding Proteins - genetics | Gene mutations | Cellular signal transduction | Muscle diseases | Genetic aspects | Research | Health aspects | Risk factors | Proteins | Medical research | Cell culture | Mitochondria | Genealogy | Biomedical research | Nuclear magnetic resonance--NMR | Mutation | Kinases | Muscular dystrophy
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 1 - 12
Nesprins, nuclear envelope spectrin-repeat proteins encoded by the SYNE1 and SYNE2 genes, are involved in localization of nuclei. The short isoform,... 
Spectrin | Myotubes | Light chains | Centromeres | Proteomics | Nuclear membranes | Neuromuscular junctions | Localization | Myogenesis | Kinesin | Skeletal muscle
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, p. e94380
Nesprin-1-giant and nesprin-2-giant regulate nuclear positioning by the interaction of their C-terminal KASH domains with nuclear membrane SUN proteins and... 
REAL-TIME PCR | SKELETAL-MUSCLE | CELLS | ROLES | SUN PROTEINS | MULTIDISCIPLINARY SCIENCES | ENVELOPE | DREIFUSS MUSCULAR-DYSTROPHY | LAMIN A/C | ACTIN CYTOSKELETON | NUCLEAR-MEMBRANE PROTEIN | Embryonic Stem Cells - metabolism | Conserved Sequence - genetics | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Muscle, Skeletal - metabolism | Gene Expression Profiling | RNA, Messenger - metabolism | Organ Specificity - genetics | Nerve Tissue Proteins - chemistry | Protein Isoforms - metabolism | Proteolysis | Myocardium - metabolism | Microfilament Proteins - metabolism | Nuclear Proteins - genetics | Microfilament Proteins - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Cell Line | Microfilament Proteins - chemistry | Muscular Dystrophy, Emery-Dreifuss - genetics | Alternative Splicing - genetics | RNA, Messenger - genetics | Exons - genetics | Nuclear Proteins - metabolism | Nuclear Proteins - chemistry | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Spleen - metabolism | Protein Isoforms - genetics | Analysis | Monoclonal antibodies | Muscles | Physiological aspects | Smooth muscle | Muscle proteins | Health aspects | Heart | Alternative splicing | Cardiomyopathy | Genes | Emery-Dreifuss muscular dystrophy | Homology | Kinases | Tissues | Muscular dystrophy | Western blotting | Proteins | Calponin | Cell growth | Actin | Bioinformatics | Heart diseases | Neuromuscular diseases | Immunoglobulins | Degradation products | Splicing | Cardiac muscle | Gene expression | Skeletal muscle | Polymerase chain reaction | Dilated cardiomyopathy | Cell lines | Isoforms | Stem cells | Cytoskeleton | Mutation | Dystrophy
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 354 - 365
Journal Article
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 1, pp. 83 - 87
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3, p. e0150818
Journal Article