المؤلفون: Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro

المساهمون: Fusto, Aurora, Cassandrini, Denise, Fiorillo, Chiara, Codemo, Valentina, Astrea, Guja, D'Amico, Adele, Maggi, Lorenzo, Magri, Francesca, Pane, Marika, Tasca, Giorgio, Sabbatini, Daniele, Bello, Luca, Battini, Roberta, Bernasconi, Pia, Fattori, Fabiana, Bertini, Enrico Silvio, Comi, Giacomo, Messina, Sonia, Mongini, Tiziana, Moroni, Isabella, Panicucci, Chiara, Berardinelli, Angela, Donati, Alice, Nigro, Vincenzo, Pini, Antonella, Giannotta, Melania, Dosi, Claudia, Ricci, Enzo, Mercuri, Eugenio, Minervini, Giovanni, Tosatto, Silvio, Santorelli, Filippo, Bruno, Claudio, Pegoraro, Elena

مصطلحات موضوعية: Myopathy, Genotype–phenotype correlations, Neuromuscular disorder, Central core disease, Multi-minicore disease, Protein modelling, RYR1-related myopathies, Humans, Muscle, Skeletal, Mutation, Myopathies, Structural, Congenital, Myopathy, Central Core, Ryanodine Receptor Calcium Release Channel, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Congenital, Structural, Genotype–phenotype correlation, Skeletal, musculoskeletal system, Settore MED/26 - NEUROLOGIA, Muscle, Myopathies, Neurology (clinical), tissues, Central Core

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e6782e29ab73654330293e8cf827edeTest
http://hdl.handle.net/11567/1084822Test

المؤلفون: Sonia Messina, Claudio Bruno, E. Mazzone, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Gianluca Vita, Francesco Muntoni, Marika Pane, Tiziana Mongini, Giovanni Baranello, Erik H. Niks, Mary Chesshyre, Francesca Magri, Volker Straub, Enrico Bertini, Elena Pegoraro, Luca Bello, Alice Donati, Silvana De Lucia, Stefano C. Previtali, Valeria Ricotti, Adele D'Amico, Jean-Yves Hogrel, Nathalie Goemans, Roberta Battini, Giacomo P. Comi, Laurent Servais, Giorgia Coratti, Federica Ricci, Imelda J. M. de Groot, Luisa Politano, Angela Berardinelli

المصدر: PLoS ONE, 16(6). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)

مصطلحات موضوعية: Male, Heredity, Genetic Linkage, Epidemiology, Physiology, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, Severity of Illness Index, Muscular Dystrophies, Dystrophin, Exon, 0302 clinical medicine, Medical Conditions, Medicine and Health Sciences, 030212 general & internal medicine, Muscular Dystrophy, Longitudinal Studies, Child, Baseline values, Multidisciplinary, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Organic Compounds, Men, Exons, Multidisciplinary Sciences, Chemistry, Deletion Mutation, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Medicine, Science & Technology - Other Topics, Steroids, exon skipping, Research Article, medicine.medical_specialty, Science, Natural history of disease, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Genetics, Humans, Clinical Genetics, Science & Technology, business.industry, Biological Locomotion, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Human Genetics, medicine.disease, Duchenne, Human genetics, Exon skipping, Follow-Up Studies, Muscular Dystrophy, Duchenne, Mutation, Clinical trial, Natural History of Disease, Medical Risk Factors, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Electronic-eCollection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7208ef0a5c3984e1eb8d2853199ed7Test
http://hdl.handle.net/1887/3249481Test

المؤلفون: Giorgio Tasca, Laxmikanth Kollipara, Francesco Ricci, Adele D'Amico, Rita Barresi, Laura E. Swan, Isabelle Nelson, Anne Boland, Hanns Lochmüller, Annalaura Torella, Ronald D. Cohn, Fabiana Fattori, Dan Cox, Ingo Feldmann, Denisa Hathazi, Heinz Jungbluth, Rita Horvath, Jennifer Baumann, Marie-Line Jacquemont, Jean-François Deleuze, Gisèle Bonne, Robert-Yves Carlier, Emily O'Connor, René P. Zahedi, Andoni Urtizberea, Emily Robinson, Richard Charlton, Andreas Roos

المساهمون: Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Pôle Femme-Mère-Enfant [CHU La Réunion, Saint-Pierre, La Réunion], Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Tasca, Giorgio [0000-0003-0849-9144], Kollipara, Laxmikanth [0000-0002-2673-0488], Zahedi, René P [0000-0002-4960-5460], Ricci, Francesco [0000-0002-7168-1099], Boland, Anne [0000-0001-8789-5676], Swan, Laura [0000-0002-6312-6263], Bonne, Gisèle [0000-0002-2516-3258], Apollo - University of Cambridge Repository, Hathazi, Denisa, Cox, Dan, D'Amico, Adele, Tasca, Giorgio, Charlton, Richard, Carlier, Robert-Yve, Baumann, Jennifer, Kollipara, Laxmikanth, Zahedi, René P, Feldmann, Ingo, Deleuze, Jean-Francoi, Torella, Annalaura, Cohn, Ronald, Robinson, Emily, Ricci, Francesco, Jungbluth, Heinz, Fattori, Fabiana, Boland, Anne, O'Connor, Emily, Horvath, Rita, Barresi, Rita, Lochmüller, Hann, Urtizberea, Andoni, Jacquemont, Marie-Line, Nelson, Isabelle, Swan, Laura, Bonne, Gisèle, Roos, Andreas

المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
Brain-A Journal of Neurology, 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
BRAIN
Brain

مصطلحات موضوعية: 0301 basic medicine, Male, Proteomics, Medizin, Disease, medicine.disease_cause, 0302 clinical medicine, Guanine Nucleotide Exchange Factors, Phosphoglycerate dehydrogenase, Child, Zebrafish, PHGDH, Spinocerebellar Degenerations, Genetics, Mutation, Inositol Polyphosphate 5-Phosphatases, Middle Aged, Phenotype, L-serine, 3. Good health, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, SIL1, Human, Adult, Ataxia, Adolescent, BiP, Spinocerebellar Degeneration, Biology, 03 medical and health sciences, Cataracts, medicine, Animals, Humans, Myopathy, Muscle, Skeletal, Phosphoglycerate Dehydrogenase, Animal, Proteomic, Original Articles, Guanine Nucleotide Exchange Factor, medicine.disease, biology.organism_classification, 030104 developmental biology, Neurology (clinical), INPP5K, Inositol Polyphosphate 5-Phosphatase, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce027d8d9bbbf23fbe33072ea746d16cTest
https://www.ncbi.nlm.nih.gov/pubmed/33792664Test

المؤلفون: Lorena Travaglini, Adele D'Amico, Gessica Vasco, Andrea Ciolfi, Sara Loddo, Marco Tartaglia, Ginevra Zanni, Simone Pizzi, Francesco Nicita, Sabina Barresi, Fabrizia Stregapede, Enrico Bertini, Chiara Aiello, Alessandro Bruselles, Viola Alesi, Michela Catteruccia

المصدر: neurogenetics. 19:111-121

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Single-nucleotide polymorphism, Biology, Gene mutation, Polymorphism, Single Nucleotide, Cohort Studies, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Molecular genetics, Genetics, medicine, Humans, Genetic Testing, Multiplex ligation-dependent probe amplification, Age of Onset, Child, Genetic Association Studies, Genetics (clinical), Genetic association, KIF1A, Massive parallel sequencing, Spastic Paraplegia, Hereditary, Infant, Newborn, Brain, High-Throughput Nucleotide Sequencing, Infant, 030104 developmental biology, Child, Preschool, Mutation, Female, 030217 neurology & neurosurgery, SNP array

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::192f12d93a2330338f5be5f4313bc9b6Test
https://doi.org/10.1007/s10048-018-0545-9Test

المؤلفون: Giacomo Brisca, John Vissing, Nicol C. Voermans, Nahla Alshaikh, Angela Berardinelli, Adele D'Amico, Jahannaz Dastgir, Angel Sanchez, Carsten G. Bönnemann, Elio Maccagnano, Jordi Díaz-Manera, Lorenzo Maggi, Robert Carlier, Enzo Ricci, Giorgio Tasca, Susana Quijano-Roy, Gianmichele Magnano, Volker Straub, Mauro Monforte, Bjarne Udd, Elena Pegoraro, Eugenio Mercuri, Jana Haberlová, Francesco Muntoni, Nicoline Løkken, Baziel G.M. van Engelen, Francina Munell, Claudio Semplicini, Anna Pichiecchio, Fabiana Fattori, Maggie C. Walter, Claudio Bruno, D. Vlodavets, Chiara Marini-Bettolo, Enrico Bertini

المصدر: Journal of Neurology, Neurosurgery, and Psychiatry, 89, 72-77
Journal of Neurology, Neurosurgery, and Psychiatry, 89, 1, pp. 72-77
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Thigh, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Sarcoglycans, medicine, Sarcoglycanopathies, Humans, Muscle, Skeletal, Child, Preschool, medicine.diagnostic_test, business.industry, Skeletal muscle, Magnetic resonance imaging, Skeletal, Posterior compartment of thigh, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Magnetic Resonance Imaging, United States, Europe, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Sarcoglycanopathy, medicine.anatomical_structure, Child, Preschool, Female, Mutation, Phenotype, Surgery, Neurology (clinical), Psychiatry and Mental Health, Muscle, business, 030217 neurology & neurosurgery, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd995631294b815f29e9fc91e9008e3aTest
https://doi.org/10.1136/jnnp-2017-316736Test

المؤلفون: Alessandra Gambineri, Nicola Carboni, Renato Mantegazza, Elena Biagini, Adele D'Amico, Elisa Schena, Luisa Politano, Maria Rosaria D'Apice, Lorenzo Maggi, Tiziana Mongini, Gabriele Siciliano, Giulia Ricci, Paola Cavalcante, Irene Tramacere, Pia Bernasconi, Liliana Vercelli, Cristina Cappelletti, Giuseppe Boriani, Giovanna Lattanzi, Matteo Ziacchi, Lucia Ruggiero

المساهمون: Cappelletti, C., Tramacere, I., Cavalcante, P., Schena, E., Politano, L., Carboni, N., Gambineri, A., D'Amico, A., Ruggiero, L., Ricci, G., Siciliano, G., Boriani, G., Mongini, T. E., Vercelli, L., Biagini, E., Ziacchi, M., D'Apice, M. R., Lattanzi, G., Mantegazza, R., Maggi, L., Bernasconi, P., Cristina Cappelletti , Irene Tramacere, Paola Cavalcante, Elisa Schena, Luisa Politano , Nicola Carboni, Alessandra Gambineri, Adele D’Amico, Lucia Ruggiero, Giulia Ricci, Gabriele Siciliano, Giuseppe Boriani, Tiziana Enrica Mongini, Liliana Vercelli, Elena Biagini, Matteo Ziacchi, Maria Rosaria D’Apice, Giovanna Lattanzi , Renato Mantegazza, Lorenzo Maggi, Pia Bernasconi, Cappelletti, Cristina, Tramacere, Irene, Cavalcante, Paola, Schena, Elisa, Politano, Luisa, Carboni, Nicola, Gambineri, Alessandra, D’Amico, Adele, Ruggiero, Lucia, Ricci, Giulia, Siciliano, Gabriele, Boriani, Giuseppe, Mongini, Tiziana Enrica, Vercelli, Liliana, Biagini, Elena, Ziacchi, Matteo, D’Apice, Maria Rosaria, Lattanzi, Giovanna, Mantegazza, Renato, Maggi, Lorenzo, Bernasconi, Pia

المصدر: Cells
Volume 9
Issue 6
Cells, Vol 9, Iss 1532, p 1532 (2020)

مصطلحات موضوعية: Adult, Male, Laminopathy, macrophage, Disease, medicine.disease_cause, Article, Striated, LMNA, muscle damage, Immune system, Muscular Diseases, cytokine, medicine, Humans, skeletal muscle, lcsh:QH301-705.5, laminopathie, Mutation, biology, business.industry, laminopathies, General Medicine, Transforming growth factor beta, medicine.disease, cytokines, macrophages, Biomarkers, Cytokines, Female, Laminopathies, Muscle, Striated, Phenotype, lcsh:Biology (General), Immunology, biology.protein, Muscle, business, Genetic screen

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79521cc115bef8027415bb1c15e77698Test
https://doi.org/10.3390/cells9061532Test

المؤلفون: Adele D’Amico, Fabiana Fattori, Chiara Fiorillo, Maria Giovanna Paglietti, Maria B. Chiarini Testa, Margherita Verardo, Michela Catteruccia, Claudio Bruno, Enrico Bertini

المساهمون: D’Amico, Adele, Fattori, Fabiana, Fiorillo, Chiara, Giovanna Paglietti, Maria, Chiarini Testa, Maria B., Verardo, Margherita, Catteruccia, Michela, Bruno, Claudio, Bertini, Enrico

مصطلحات موضوعية: Nemaline myopathy, Pectus carinatum, Rod bodie, TNNT1, Tropomyosin I, Female, Homozygote, Human, Infant, Muscle, Skeletal, Mutation, Myopathies, Nemaline, Pedigree, Phenotype, Sibling, Troponin I

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31604653; info:eu-repo/semantics/altIdentifier/wos/WOS:000496871200005; volume:29; firstpage:766; lastpage:770; numberofpages:5; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11567/1027235Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85073033619

الإتاحة: https://doi.org/10.1016/j.nmd.2019.09.005Test
http://hdl.handle.net/11567/1027235Test

المؤلفون: Margherita Verardo, Claudio Bruno, Chiara Fiorillo, Maria Beatrice Chiarini Testa, Fabiana Fattori, Michela Catteruccia, Adele D'Amico, Enrico Bertini, Maria Giovanna Paglietti

المصدر: Neuromuscular disorders : NMD. 29(10)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Nemaline myopathy, Pectus carinatum, Rod bodies, TNNT1, Tropomyosin I, Female, Homozygote, Humans, Infant, Muscle, Skeletal, Mutation, Myopathies, Nemaline, Pedigree, Phenotype, Siblings, Troponin I, Nemaline, Population, 03 medical and health sciences, 0302 clinical medicine, medicine, Missense mutation, education, Genetics (clinical), education.field_of_study, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscle weakness, Skeletal, medicine.disease, humanities, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Failure to thrive, Old Order Amish, Muscle, Myopathies, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06eea66729db32191f6ebf5b6fc74fe7Test
https://pubmed.ncbi.nlm.nih.gov/31604653Test

المؤلفون: Jean-François Desaphy, Sabrina Lucchiari, Adele D'Amico, Diana Conte Camerino, Anna Modoni, Paola Imbrici, Julien Roussel, Serena Pagliarani, Mauro Lo Monaco, Roberta Carbonara

المصدر: Neurology

مصطلحات موضوعية: Myotonia Congenita, Mutant, Mexiletine, Pharmacology, Article, Cell Line, Diagnosis, Differential, Translational Research, Biomedical, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Myotonia permanens, NAV1.4 Voltage-Gated Sodium Channel, Precision Medicine, Voltage-Gated Sodium Channel Blockers, Child, Flecainide, Myotonia congenita, business.industry, medicine.disease, Myotonia, Phenotype, Pharmacogenomic Testing, Mutation, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f21e25c6ef544e7eafc611688e253c65Test
https://doi.org/10.1212/wnl.0000000000002721Test

المؤلفون: Giovanni, Peretto, Chiara, Di Resta, Jacopo, Perversi, Cinzia, Forleo, Lorenzo, Maggi, Luisa, Politano, Andrea, Barison, Stefano C, Previtali, Nicola, Carboni, Francesca, Brun, Elena, Pegoraro, Adele, D'Amico, Carmelo, Rodolico, Francesca, Magri, Rosa C, Manzi, Alberto, Palladino, Franco, Isola, Lorenzo, Gigli, Tiziana E, Mongini, Claudio, Semplicini, Chiara, Calore, Giulia, Ricci, Giacomo P, Comi, Lucia, Ruggiero, Enrico, Bertini, Paolo, Bonomo, Gerardo, Nigro, Nicoletta, Resta, Michele, Emdin, Stefano, Favale, Gabriele, Siciliano, Lucio, Santoro, Gianfranco, Sinagra, Giuseppe, Limongelli, Alessandro, Ambrosi, Maurizio, Ferrari, Pier G, Golzio, Paolo Della, Bella, Sara, Benedetti, Simone, Sala

المساهمون: Peretto, G., Di Resta, C., Perversi, J., Forleo, C., Maggi, L., Politano, L., Barison, A., Previtali, S. C., Carboni, N., Brun, F., Pegoraro, E., D'Amico, A., Rodolico, C., Magri, F., Manzi, R. C., Palladino, A., Isola, F., Gigli, L., Mongini, T. E., Semplicini, C., Calore, C., Ricci, G., Comi, G. P., Ruggiero, L., Bertini, E., Bonomo, P., Nigro, G., Resta, N., Emdin, M., Favale, S., Siciliano, G., Santoro, Lucio., Sinagra, G., Limongelli, G., Ambrosi, A., Ferrari, M., Golzio, P. G., Bella, P. D., Benedetti, S., Sala, S., Santoro, L., Peretto, Giovanni, Di Resta, Chiara, Perversi, Jacopo, Forleo, Cinzia, Maggi, Lorenzo, Politano, Luisa, Barison, Andrea, Previtali, Stefano C, Carboni, Nicola, Brun, Francesca, Pegoraro, Elena, D'Amico, Adele, Rodolico, Carmelo, Magri, Francesca, Manzi, Rosa C, Palladino, Alberto, Isola, Franco, Gigli, Lorenzo, Mongini, Tiziana E, Semplicini, Claudio, Calore, Chiara, Ricci, Giulia, Comi, Giacomo P, Ruggiero, Lucia, Bertini, Enrico, Bonomo, Paolo, Nigro, Gerardo, Resta, Nicoletta, Emdin, Michele, Favale, Stefano, Siciliano, Gabriele, Santoro, Lucio, Sinagra, Gianfranco, Limongelli, Giuseppe, Ambrosi, Alessandro, Ferrari, Maurizio, Golzio, Pier G, Bella, Paolo Della, Benedetti, Sara, Sala, Simone

المصدر: Annals of Internal Medicine. 171:458

مصطلحات موضوعية: Male, Heart disease, Cardiomyopathy, Cardiomiopatia, laminopatie, mutazioni, malattie neuromuscolari, Arrhythmias, 01 natural sciences, Muscular Dystrophies, Sudden cardiac death, LMNA, Adult, Arrhythmias, Cardiac, Atrial Fibrillation, Atrioventricular Block, Cardiomyopathies, Disease Progression, Female, Follow-Up Studies, Gait Disorders, Neurologic, Heart Failure, Heart Transplantation, Humans, Italy, Lamin Type A, Middle Aged, Prospective Studies, Respiratory Insufficiency, Mutation, 0302 clinical medicine, 030212 general & internal medicine, Muscular Dystrophie, Ejection fraction, LMNA (lamin A/C), Atrial fibrillation, General Medicine, Cardiology, Cardiac, Human, medicine.medical_specialty, Follow-Up Studie, 03 medical and health sciences, Internal medicine, Neurologic, Internal Medicine, medicine, Gait Disorders, 0101 mathematics, Neuromuscular Manifestations, Cardiomyopathie, business.industry, 010102 general mathematics, medicine.disease, Prospective Studie, Heart failure, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ddec1390d34838763b34d4b69e3c289Test
https://doi.org/10.7326/m18-2768Test