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by Nicolas, Aude and Kenna, Kevin P and Kenna, Aoife and Kenna, Kevin and Kenna, Brendan J and Renton, Alan E and Ticozzi, Nicola and Faghri, Faraz and Chia, Ruth and Dominov, Janice A and Nalls, Mike A and Keagle, Pamela and Rivera, Alberto M and van Rheenen, Wouter and Murphy, Natalie A and van Vugt, Joke and van Vugt, Joke J.F.A and Geiger, Joshua T and Van der Spek, Rick A and Pliner, Hannah A and Shankaracharya and Smith, Bradley N and Marangi, Giuseppe and Topp, Simon D and Abramzon, Yevgeniya and Gkazi, Athina Soragia and Eicher, John D and Logullo, Francesco O and Simone, Isabella and Simone, Isabella L and Logroscino, Giancarlo and Salvi, Fabrizio and Bartolomei, Ilaria and Borghero, Giuseppe and Murru, Maria Rita and Costantino, Emanuela and Pani, Carla and Puddu, Roberta and Caredda, Carla and Piras, Valeria and Tranquilli, Stefania and Cuccu, Stefania and Corongiu, Daniela and Melis, Maurizio and Milia, Antonio and Marrosu, Francesco and Marrosu, Maria Giovanna and Floris, Gianluca and Cannas, Antonino and Capasso, Margherita and Caponnetto, Claudia and Mancardi, Gianluigi and Origone, Paola and Mandich, Paola and Conforti, Francesca L and Cavallaro, Sebastiano and Mora, Gabriele and Mora, Jesús S and Marinou, Kalliopi and Sideri, Riccardo and Penco, Silvana and Mosca, Lorena and Lunetta, Christian and Pinter, Giuseppe Lauria and Corbo, Massimo and Riva, Nilo and Carrera, Paola and Volanti, Paolo and Mandrioli, Jessica and Fini, Nicola and Fasano, Antonio and Tremolizzo, Lucio and Arosio, Alessandro and Ferrarese, Carlo and Trojsi, Francesca and Tedeschi, Gioacchino and Monsurrò, Maria Rosaria and Piccirillo, Giovanni and Femiano, Cinzia and Ticca, Anna and Ortu, Enzo and La Bella, Vincenzo and Spataro, Rossella and Colletti, Tiziana and Sabatelli, Mario and Zollino, Marcella and Conte, Amelia and Luigetti, Marco and Lattante, Serena and Santarelli, Marialuisa and Petrucci, Antonio and Pugliatti, Maura and Pirisi, Angelo and Parish, Leslie D and Occhineri, Patrizia and Giannini, Fabio and Battistini, Stefania and Ricci, Claudia and Benigni, Michele and Cau, Tea B and ... and Genomic Translation ALS Care GTAC and ALS Sequencing Consortium and Clinical Res ALS Related Disorders and NYGC ALS Consortium and ITALSGEN Consortium and SLAGEN Consortium and French ALS Consortium and Project MinE ALS Sequencing Consor and Answer ALS Fdn and Project MinE ALS Sequencing Consortium and Genomic Translation for ALS Care (GTAC) Consortium and Answer ALS Foundation and Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium and Medicinska fakulteten and Institutionen för farmakologi och klinisk neurovetenskap and Umeå universitet
Neuron, ISSN 0896-6273, 03/2018, Volume 97, Issue 6, pp. 1268 - 1283.e6
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 12/2004, Volume 114, Issue 11, pp. 1635 - 1639
  The most common form of human congenital muscular dystrophy (CMD) is caused by mutations in the laminin-alpha2 gene. Loss of laminin-alpha2 function in this... 
Index Medicus | Abridged Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 8, pp. e22369 - e22369
Laminin alpha 2 (LAMA2)-deficient congenital muscular dystrophy is a severe, early-onset disease caused by abnormal levels of laminin 211 in the basal lamina... 
SKELETAL-MUSCLE | INFLAMMATORY MYOPATHY | ACTIVATION | MULTIDISCIPLINARY SCIENCES | DISEASE | TOLL-LIKE RECEPTORS | GENE-EXPRESSION | LIMB-GIRDLE | NF-KAPPA-B | MEROSIN DEFICIENCY | ONSET | Muscular Dystrophy, Animal - genetics | Leukemic Infiltration - genetics | Membrane Glycoproteins - metabolism | Immunity, Innate - genetics | Toll-Like Receptor 9 - genetics | Proto-Oncogene Proteins c-bcl-2 - metabolism | Mice, Mutant Strains | Toll-Like Receptor 6 - genetics | Muscular Dystrophy, Animal - metabolism | In Situ Nick-End Labeling | Leukemic Infiltration - metabolism | Toll-Like Receptor 6 - metabolism | Toll-Like Receptor 7 - genetics | Muscular Dystrophy, Animal - immunology | Toll-Like Receptor 7 - metabolism | Mice, Inbred C57BL | Toll-Like Receptor 4 - genetics | Reverse Transcriptase Polymerase Chain Reaction | Toll-Like Receptor 4 - metabolism | Blotting, Western | Membrane Glycoproteins - genetics | Immunity, Innate - immunology | Animals | Leukemic Infiltration - immunology | Toll-Like Receptor 8 - genetics | Mice | Toll-Like Receptor 9 - metabolism | Proto-Oncogene Proteins c-bcl-2 - genetics | Toll-Like Receptor 8 - metabolism | Genetic engineering | Inflammation | Laminin | RNA | Muscular dystrophy | Apoptosis | Regulators | Biomedical research | Disease | Bcl-2 protein | Pathogenesis | Transgenic | Effector cells | Animal diseases | mRNA | Autophagy | Proteins | Receptors | Toll-like receptors | Basal lamina | Degeneration | Stress response | Immune system | Heparan sulfate | Neuromuscular diseases | Immune response | MyoD protein | TLR7 protein | Congenital diseases | Cell survival | Cytokines | Leukocytes (eosinophilic) | Muscles | TLR4 protein | Gene expression | Survival | TLR9 protein | Immune systems | Pathology | Cell death | Ligands | Muscle function | Infiltration | Dystrophy | Endoplasmic reticulum | Eosinophils | Index Medicus
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2005, Volume 14, Issue 8, pp. 1029 - 1040
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 04/2019, Volume 6, Issue 4, pp. 642 - 654
Objective Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to... 
ASSAY | GENE | VARIANTS | T-TUBULE | MODEL | IDENTIFICATION | NEUROSCIENCES | CLINICAL NEUROLOGY | Kinases | Patients | Blood | Cell adhesion & migration | Proteins | Musculoskeletal system | Inventors | Biopsy | Fibroblasts | Protein expression | Muscle function | Mutation | Deoxyribonucleic acid--DNA
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 04/2005, Volume 14, Issue 8, pp. 1029 - 1040
To examine the role of apoptosis in neuromuscular disease progression, we have determined whether pathogenesis in dystrophin-deficient (mdx) and laminin alpha... 
CELLS PROMOTE | SKELETAL-MUSCLE | CONGENITAL MUSCULAR-DYSTROPHY | DNA-FRAGMENTATION | ALPHA-7-BETA-1 INTEGRIN | APOPTOSIS REPRESSOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | GLYCOPROTEIN COMPLEX | GENETICS & HEREDITY | GENE-EXPRESSION | MEROSIN DEFICIENCY | MOUSE MODELS
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 09/2014, Volume 1, Issue 9, pp. 703 - 720
Objective: Mutations in dysferlin (DYSF), a Ca2+-sensitive ferlin family protein important for membrane repair, vesicle trafficking, and T-tubule function,... 
NEUROSCIENCES | CLINICAL NEUROLOGY | Proteins | Muscular dystrophy | Mutation
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 07/2015, Volume 2, Issue 7, pp. 785 - 785
Journal Article
Current topics in developmental biology, ISSN 0070-2153, 01/1998, Volume 43, Issue C, pp. 191 - 219
This chapter discusses the experiments that have shaped ones ideas of cellular and molecular mechanisms in myogenesis. It discusses the experiments regarding... 
Journal Article
Journal Article