المؤلفون: Laura Pelosi, Maria Grazia Berardinelli, Loredana De Pasquale, Carmine Nicoletti, Adele D'Amico, Francesco Carvello, Gian Marco Moneta, Angela Catizone, Enrico Bertini, Fabrizio De Benedetti, Antonio MUSARO'

المساهمون: Pelosi, Laura, Grazia Berardinelli, Maria, De Pasquale, Loredana, Nicoletti, Carmine, D'Amico, Adele, Carvello, Francesco, Marco Moneta, Gian, Catizone, Angiolina, Bertini, Enrico, De Benedetti, Fabrizio, Musaro', Antonio

مصطلحات موضوعية: IL6, inflammation, muscular dystrophy, necrosi, therapy, animal, disease model, homeostasi, interleukin-6, male, mice, inbred C57BL, inbred mdx, muscle, duchenne, phenotype, receptor, biochemistry, genetics and molecular biology (all), medicine (all)

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26137572; info:eu-repo/semantics/altIdentifier/wos/WOS:000365952100008; volume:2; issue:4; firstpage:285; lastpage:293; numberofpages:9; journal:EBIOMEDICINE; http://hdl.handle.net/11573/783640Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84949195979; http://www.journals.elsevier.com/ebiomedicineTest/

الإتاحة: https://doi.org/10.1016/j.ebiom.2015.02.014Test
http://hdl.handle.net/11573/783640Test
http://www.journals.elsevier.com/ebiomedicineTest/

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: 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: Tiziana Mongini, Lorenzo Peverelli, Marina Mora, Esther Picillo, Adele D'Amico, Giulio Piluso, Lorenzo Maggi, Jan De Bleecker, Marco Savarese, Corrado Angelini, Luisa Politano, Filippo M. Santorelli, Annalaura Torella, Liliana Vercelli, Olimpia Musumeci, Carlo Minetti, Giacomo P. Comi, Eugenio Mercuri, Maurizio Moggio, Enrico Bertini, Francesca Magri, Lucia Ruggiero, Claudio Bruno, Fabiana Fattori, Manuela Ergoli, Chiara Fiorillo, Antonio Toscano, Vincenzo Nigro, Arcomaria Garofalo, Anna Rubegni, Lucio Santoro, Marina Fanin, Teresa Giugliano

المساهمون: Giugliano, Teresa, Savarese, Marco, Garofalo, Arcomaria, Picillo, Esther, Fiorillo, Chiara, D’Amico, Adele, Maggi, Lorenzo, Ruggiero, Lucia, Vercelli, Liliana, Magri, Francesca, Fattori, Fabiana, Torella, Annalaura, Ergoli, Manuela, Rubegni, Anna, Fanin, Marina, Musumeci, Olimpia, De Bleecker, Jan, Peverelli, Lorenzo, Moggio, Maurizio, Mercuri, Eugenio, Toscano, Antonio, Mora, Marina, Santoro, Lucio, Mongini, Tiziana, Bertini, Enrico, Bruno, Claudio, Minetti, Carlo, Comi, Giacomo Pietro, Santorelli, Filippo Maria, Angelini, Corrado, Politano, Luisa, Piluso, Giulio, Nigro, Vincenzo, Medicum, Teresa, Giugliano, Marco, Savarese, Arcomaria, Garofalo, Esther, Picillo, Chiara, Fiorillo, Adele, D’Amico, Lorenzo, Maggi, Lucia, Ruggiero, Liliana, Vercelli, Francesca, Magri, Fabiana, Fattori, Manuela, Ergoli, Anna, Rubegni, Marina, Fanin, Olimpia, Musumeci, Jan De Bleecker, Lorenzo, Peverelli, Maurizio, Moggio, Eugenio, Mercuri, Antonio, Toscano, Marina, Mora, Lucio, Santoro, Tiziana, Mongini, Enrico, Bertini, Claudio, Bruno, Carlo, Minetti, Giacomo Pietro Comi, Filippo Maria Santorelli, Corrado, Angelini

المصدر: Genes
Genes, Vol 9, Iss 11, p 524 (2018)
Volume 9
Issue 11

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, MYOPATHIC PATIENTS, Copy number variants, Next-generation sequencing, Skeletal muscle disorders, Variants of uncertain significance, Genetics, Genetics (clinical), Disease, skeletal muscle disorders, Biology, Copy number variant, Article, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Genetic, Gene duplication, medicine, Copy-number variation, Multiplex ligation-dependent probe amplification, Myopathy, Gene, Skeletal muscle disorder, 1184 Genetics, developmental biology, physiology, Phenotype, 3. Good health, lcsh:Genetics, 030104 developmental biology, medicine.symptom, 030217 neurology & neurosurgery, copy number variants, Comparative genomic hybridization

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d3efb8e2b04ac6ed67da616e31cfcf9Test
http://hdl.handle.net/11588/752331Test

المؤلفون: Marta Nardella, Adele D'Amico, Matteo Di Capua, Marina Trivisano, Nicola Specchio, Roberto Frusciante, Ginevra Zanni, José M. Fernández-Fernández, Lorena Travaglini, Emanuele Bellacchio, Raffaella Cusmai, Federico Vigevano, Massimiliano Valeriani, Enrico Bertini, Sabina Barresi, Alessandro Capuano, Silvia Morlino

المصدر: European Journal of Paediatric Neurology. 21:450-456

مصطلحات موضوعية: Male, 0301 basic medicine, Cerebellum, Pathology, medicine.medical_specialty, Ataxia, Migraine Disorders, Mutation, Missense, Neuroimaging, Biology, 03 medical and health sciences, Calcium Channels, N-Type, 0302 clinical medicine, Atrophy, medicine, Humans, Missense mutation, Child, Gene, Genetics, General Medicine, medicine.disease, Magnetic Resonance Imaging, Phenotype, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Migraine, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Cerebellar atrophy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d2ce5dc85c9e85cfbeb20c9c25be982Test
https://doi.org/10.1016/j.ejpn.2016.11.005Test

المؤلفون: A. Hernandez, Andrea Gangfuß, V. Chê, Adele D'Amico, Rémi Bellance, Laurent Servais, Capucine de Lattre, Basil T. Darras, E. Gargaun, James J. Dowling, Teresa Gidaro, C. Lilien, Ulrike Schara, A. Daron, Ana Buj-Bello, H. Landy, Jean-Marie Cuisset, Carole Vuillerot, Jean-Yves Hogrel, S. Fontaine, Jean-Michel Arnal, Valérie Biancalana, Michèle Mayer, M. Annoussamy

المساهمون: Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Advanced BC.org, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon, Neuromuscular Physiology and Evaluation Laboratory, Service of Clinical Trials and Databases, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), École Pratique des Hautes Études (EPHE), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Neurology
Neurology, American Academy of Neurology, 2019, 92 (16), pp.e1852-e1867. ⟨10.1212/WNL.0000000000007319⟩
Neurology, 2019, 92 (16), pp.e1852-e1867. ⟨10.1212/WNL.0000000000007319⟩

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Vital capacity, medicine.medical_specialty, Neuromuscular disease, Adolescent, [SDV]Life Sciences [q-bio], Population, Medizin, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, Humans, Longitudinal Studies, Prospective Studies, education, Prospective cohort study, Child, education.field_of_study, business.industry, Exhalation, Infant, Middle Aged, medicine.disease, X-linked myotubular myopathy, 3. Good health, 030104 developmental biology, Phenotype, Child, Preschool, Breathing, Disease Progression, Neurology (clinical), business, 030217 neurology & neurosurgery, Natural history study, Follow-Up Studies, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b38c1995ded35a436868282a9704c7Test
https://hal.archives-ouvertes.fr/hal-02880782Test

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