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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2014, Volume 111, Issue 11, pp. 4197 - 4202
Signaling through the store-operated Ca2+ release-activated Ca2+ (CRAC) channel regulates critical cellular functions, including gene expression, cell growth... 
Muscular diseases | HEK293 cells | Calcium | Lymphocytes | Alleles | Miosis | Platelets | Genetic mutation | Embryos | Bleeding | Calcium signaling | Human genetics | human genetics | ZEBRAFISH | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | calcium signaling | MAST-CELLS | CRAC CHANNELS | CA2+ STORE DEPLETION | STROMAL INTERACTION MOLECULE-1 | CALCIUM | ENDOPLASMIC-RETICULUM | PROTEINS | PLASMA MEMBRANE JUNCTIONS | Humans | Molecular Sequence Data | Myopathies, Structural, Congenital - genetics | DNA Primers - genetics | Erythrocytes, Abnormal | Miosis - genetics | Base Sequence | Ichthyosis - genetics | Female | Neoplasm Proteins - genetics | Calcium Channels - genetics | Child | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Mutagenesis, Site-Directed | Membrane Proteins - genetics | Zebrafish | Spleen - abnormalities | Mutation - genetics | Dyslexia - genetics | ORAI1 Protein | Sequence Analysis, DNA | Patch-Clamp Techniques | Animals | Migraine Disorders - genetics | Pedigree | Muscle Fatigue - genetics | Calcium Signaling - genetics | Calcium channels | Genetic disorders | Gene mutations | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Cytoplasm | Proteins | Signal transduction | Cell growth | Homeostasis | Mutation | Gene expression | Index Medicus | Biological Sciences
Journal Article
Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 1, pp. 28 - 35
Journal Article
Brain, ISSN 0006-8950, 2016, Volume 139, Issue 3, pp. 674 - 691
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 365 - 371
Journal Article
Science Translational Medicine, ISSN 1946-6234, 01/2014, Volume 6, Issue 220, pp. 220ra10 - 220ra10
Journal Article
Journal Article
by Brownstein, Catherine A and Beggs, Alan H and Homer, Nils and Merriman, Barry and Yu, Timothy W and Flannery, Katherine C and DeChene, Elizabeth T and Towne, Meghan C and Savage, Sarah K and Price, Emily N and Holm, Ingrid A and Luquette, Lovelace J and Lyon, Elaine and Majzoub, Joseph and Neupert, Peter and McCallie, David and Szolovits, Peter and Willard, Huntington F and Mendelsohn, Nancy J and Temme, Renee and Finkel, Richard S and Yum, Sabrina W and Medne, Livija and Sunyaev, Shamil R and Adzhubey, Ivan and Cassa, Christopher A and De Bakker, Paul I.W and Duzkale, Hatice and Dworzyński, Piotr and Fairbrother, William and Francioli, Laurent and Funke, Birgit H and Giovanni, Monica A and Handsaker, Robert E and Lage, Kasper and Lebo, Matthew S and Lek, Monkol and Leshchiner, Ignaty and MacArthur, Daniel G and McLaughlin, Heather M and Murray, Michael F and Pers, Tune H and Polak, Paz P and Raychaudhuri, Soumya and Rehm, Heidi L and Soemedi, Rachel and Stitziel, Nathan O and Vestecka, Sara and Supper, Jochen and Gugenmus, Claudia and Klocke, Bernward and Hahn, Alexander and Schubach, Max and Menzel, Mortiz and Biskup, Saskia and Freisinger, Peter and Deng, Mario and Braun, Martin and Perner, Sven and Smith, Richard J.H and Andorf, Janeen L and Huang, Jian and Ryckman, Kelli and Sheffield, Val C and Stone, Edwin M and Bair, Thomas and Ann Black-Ziegelbein, E and Braun, Terry A and Darbro, Benjamin and DeLuca, Adam P and Kolbe, Diana L and Scheetz, Todd E and Shearer, Aiden E and Sompallae, Rama and Wang, Kai and Bassuk, Alexander G and Edens, Erik and Mathews, Katherine and Moore, Steven A and Shchelochkov, Oleg A and Trapane, Pamela and Bossler, Aaron and Campbell, Colleen A and Heusel, Jonathan W and Kwitek, Anne and Maga, Tara and Panzer, Karin and Wassink, Thomas and Van Daele, Douglas and Azaiez, Hela and Booth, Kevin and Meyer, Nic and Segal, Michael M and Williams, Marc S and Tromp, Gerard and White, Peter and Corsmeier, Donald and Fitzgerald-Butt, Sara and Herman, Gail and Lamb-Thrush, Devon and ... and Science for Life Laboratory, SciLifeLab and Centra and Skolan för bioteknologi (BIO) and KTH and Genteknologi
Genome Biology, ISSN 1474-7596, 2014, Volume 15, Issue 3, pp. R53 - R53
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 04/2017, Volume 25, Issue 4, pp. 839 - 854
X-linked myotubular myopathy (XLMTM) results from gene mutations and myotubularin deficiency. Most XLMTM patients develop severe muscle weakness leading to... 
myotubularin | centronuclear | neuromuscular | myotubular | myopathy | muscle | gene therapy | adeno-associated virus | canine | pediatric | NONHUMAN-PRIMATES | EFFICIENT TRANSDUCTION | MUSCLE PATHOLOGY | MEDICINE, RESEARCH & EXPERIMENTAL | CANINE MODEL | ADENOASSOCIATED VIRUS | MUSCULAR-DYSTROPHY | SKELETAL-MUSCLE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | HEMOPHILIA-B | AAV | GENETICS & HEREDITY | RECEPTOR FOOTPRINT | Dependovirus - genetics | Gait | Genetic Vectors - administration & dosage | Genetic Vectors - adverse effects | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Recovery of Function | Tissue Distribution | Immunity, Humoral | Myopathies, Structural, Congenital - therapy | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Muscle Strength | Disease Models, Animal | Reflex | Gene Expression | Transgenes - genetics | Kaplan-Meier Estimate | Muscle, Skeletal - ultrastructure | Treatment Outcome | Dependovirus - classification | Disease Progression | Genetic Vectors - genetics | Animals | Biopsy | Muscle, Skeletal - physiopathology | Dogs | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - mortality | Muscle, Skeletal - pathology | Respiratory Function Tests | Genetic Vectors - pharmacokinetics | Transgenes - immunology | Immunity, Cellular | Genetic Therapy - adverse effects | Genetic Therapy - methods | Animal models | Respiratory function | MTM1 gene | Animal euthanasia | Immune response | Disease | Clinical trials | Grants | Males | Desmin | Muscular dystrophy | Pathology | Genotype & phenotype | Musculoskeletal system | Walking | Ostomy | Life span | Trends | Mutation | Gene therapy | Age | Myopathy | Index Medicus | Life Sciences | Original
Journal Article
Muscle & Nerve, ISSN 0148-639X, 08/2018, Volume 58, Issue 2, pp. 235 - 244
Introduction : Congenital myopathies are muscle diseases characterized by specific histopathologic features, generalized hypotonia from birth, and perinatal... 
molecular genetics | core | fiber type disproportion | nemaline rods | central nuclei | congenital myopathy | NEMALINE MYOPATHY | NEBULIN GENE | CLINICAL-FEATURES | NEUROSCIENCES | ROD MYOPATHY | CLINICAL NEUROLOGY | FIBER-TYPE DISPROPORTION | RYR1 MUTATIONS | ALPHA-ACTIN GENE | DNM2-RELATED CENTRONUCLEAR MYOPATHY | PATHOLOGICAL FEATURES | CENTRAL CORE DISEASE | Myopathies, Nemaline - genetics | Humans | Myopathies, Structural, Congenital - congenital | Child, Preschool | Infant | Male | Myopathies, Structural, Congenital - genetics | Myopathies, Nemaline - pathology | Young Adult | Adult | Female | Retrospective Studies | Myotonia Congenita - genetics | Child | Myopathy, Central Core - genetics | Republic of Korea | Myopathy, Central Core - congenital | Dynamins - genetics | Treatment Outcome | Myotonia Congenita - pathology | Muscle Proteins - genetics | Myopathy, Central Core - pathology | Ryanodine Receptor Calcium Release Channel - genetics | Adolescent | Age of Onset | Muscle Fibers, Skeletal - pathology | Myopathies, Structural, Congenital - pathology | Mutation | Medicine, Experimental | Medical research | Development and progression | Genetic disorders | Health aspects | Hypotonia | Congenital diseases | Complications | Nemaline myopathy | Ryanodine receptors | Muscles | Children | Central core disease | Patients | Myopathy | Index Medicus
Journal Article