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1دورية أكاديمية
المؤلفون: Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
المصدر: Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
مصطلحات موضوعية: late-onset Pompe disease (LOPD), exonic variants, glycogen synthesis, glycogen catabolism, genotype–phenotype correlates, genetic modifiers, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Giulia Ricci, Fabiano Mele, Monica Govi, Lucia Ruggiero, Francesco Sera, Liliana Vercelli, Cinzia Bettio, Lucio Santoro, Tiziana Mongini, Luisa Villa, Maurizio Moggio, Massimiliano Filosto, Marina Scarlato, Stefano C. Previtali, Silvia Maria Tripodi, Elena Pegoraro, Roberta Telese, Antonio Di Muzio, Carmelo Rodolico, Elisabetta Bucci, Giovanni Antonini, Maria Grazia D’Angelo, Angela Berardinelli, Lorenzo Maggi, Rachele Piras, Maria Antonietta Maioli, Gabriele Siciliano, Giuliano Tomelleri, Corrado Angelini, Rossella Tupler
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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3دورية أكاديمية
المؤلفون: Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: myotonia, periodic paralysis, SNEL, channelopathies, voltage-gated sodium channel NaV1.4, SCN4A gene mutation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Olimpia Musumeci, Emanuele Barca, Costanza Lamperti, Serenella Servidei, Giacomo Pietro Comi, Maurizio Moggio, Tiziana Mongini, Gabriele Siciliano, Massimiliano Filosto, Elena Pegoraro, Guido Primiano, Dario Ronchi, Liliana Vercelli, Daniele Orsucci, Luca Bello, Massimo Zeviani, Michelangelo Mancuso, Antonio Toscano
المصدر: Frontiers in Neurology, Vol 10 (2019)
مصطلحات موضوعية: multiple symmetrical lipomatosis, MERRF, mitochondrial myopathy, madelung's disease, brown fat, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: 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
المصدر: Cells, Vol 9, Iss 6, p 1532 (2020)
مصطلحات موضوعية: cytokines, laminopathies, macrophages, muscle damage, skeletal muscle, Cytology, QH573-671
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Ana Nikolic, Takako I Jones, Monica Govi, Fabiano Mele, Louise Maranda, Francesco Sera, Giulia Ricci, Lucia Ruggiero, Liliana Vercelli, Simona Portaro, Luisa Villa, Chiara Fiorillo, Lorenzo Maggi, Lucio Santoro, Giovanni Antonini, Massimiliano Filosto, Maurizio Moggio, Corrado Angelini, Elena Pegoraro, Angela Berardinelli, Maria Antonetta Maioli, Grazia D’Angelo, Antonino Di Muzio, Gabriele Siciliano, Giuliano Tomelleri, Maurizio D’Esposito, Floriana Della Ragione, Arianna Brancaccio, Rachele Piras, Carmelo Rodolico, Tiziana Mongini, Frederique Magdinier, Valentina Salsi, Peter L. Jones, Rossella Tupler
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 7, p 2635 (2020)
مصطلحات موضوعية: FSHD, D4Z4 reduced allele, DNA methylation, genotype–phenotype correlation, molecular diagnosis, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Teresa Giugliano, Marco Savarese, Arcomaria Garofalo, Esther Picillo, Chiara Fiorillo, Adele D’Amico, Lorenzo Maggi, Lucia Ruggiero, Liliana Vercelli, Francesca Magri, Fabiana Fattori, Annalaura Torella, 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, Luisa Politano, Giulio Piluso, Vincenzo Nigro
المصدر: Genes, Vol 9, Iss 11, p 524 (2018)
مصطلحات موضوعية: copy number variants, skeletal muscle disorders, next-generation sequencing, variants of uncertain significance, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Tiziana Mongini, Federica Ricci, Chiara Brusa, Chiara Davico, Liliana Vercelli, Martina Vacchetti, Benedetto Vitiello
المصدر: Expert Review of Clinical Pharmacology. 12:757-770
مصطلحات موضوعية: Duchenne muscular dystrophy, Genetic enhancement, genetic therapies, Bioinformatics, 030226 pharmacology & pharmacy, 03 medical and health sciences, 0302 clinical medicine, Animals, Humans, Medicine, Pharmacology (medical), Neuromuscular diseases, Pompe disease, X-linked myotubular myopathy, gene therapy, molecular therapies, myotonic dystrophy type 1, spinal muscular atrophy, Molecular Targeted Therapy, General Pharmacology, Toxicology and Pharmaceutics, Child, Heterogeneous group, business.industry, Genetic Therapy, Neuromuscular Diseases, General Medicine, Spinal muscular atrophy, medicine.disease, Drug Design, 030220 oncology & carcinogenesis, business
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9
المؤلفون: W.W.M. Pim Pijnappel, Roberto Della Casa, Ans T. van der Ploeg, Lucio Santoro, Liliana Vercelli, Marcella Coletta, Olimpia Musumeci, Marianthi Karali, Andrea Dardis, Annamaria Carissimo, Nadia Minopoli, Edoardo Nusco, Francesca Gatto, Antonietta Tarallo, Tiziana Mongini, Sandro Banfi, Roberta Taurisano, Giancarlo Parenti, Lucia Ruggiero, Carla Damiano, Antonio Toscano, Simona Fecarotta, Emma Acampora, Bruno Bembi, Federica Deodato
المساهمون: Tarallo, Antonietta, Carissimo, Annamaria, Gatto, Francesca, Nusco, Edoardo, Toscano, Antonio, Musumeci, Olimpia, Coletta, Marcella, Karali, Marianthi, Acampora, Emma, Damiano, Carla, Minopoli, Nadia, Fecarotta, Simona, Della Casa, Roberto, Mongini, Tiziana, Vercelli, Liliana, Santoro, Lucio, Ruggiero, Lucia, Deodato, Federica, Taurisano, Roberta, Bembi, Bruno, Dardis, Andrea, Banfi, Sandro, Pijnappel, W W Pim, van der Ploeg, Ans T, Parenti, Giancarlo, Internal Medicine, Clinical Genetics, Pediatrics
المصدر: Genetics in medicine (2018): 1–10. doi:10.1038/s41436-018-0103-8
info:cnr-pdr/source/autori:Tarallo A.; Carissimo A.; Gatto F.; Nusco E.; Toscano A.; Musumeci O.; Coletta M.; Karali M.; Acampora E.; Damiano C.; Minopoli N.; Fecarotta S.; della Casa R.; Mongini T.; Vercelli L.; Santoro L.; Ruggiero L.; Deodato F.; Taurisano R.; Bembi B.; Dardis A.; Banfi S.; Pijnappel W.W.P.; van der Ploeg A.T.; Parenti G./titolo:microRNAs as biomarkers in Pompe disease/doi:10.1038%2Fs41436-018-0103-8/rivista:Genetics in medicine/anno:2018/pagina_da:1/pagina_a:10/intervallo_pagine:1–10/volume
Genetics in Medicine, 21(3), 591-600. Lippincott Williams & Wilkinsمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Knockout, Disease, Next-generation sequencing, miRNAs, Enzyme replacement therapy, microRNAs, miR-133a, Pompe disease, Animals, Biomarkers, Disease Models, Animal, Female, Glycogen Storage Disease Type II, Humans, Mice, Mice, Knockout, MicroRNAs, Middle Aged, 03 medical and health sciences, 0302 clinical medicine, microRNA, Glycogen storage disease type II, medicine, Genetics (clinical), business.industry, Animal, medicine.disease, Phenotype, Pathophysiology, Muscle atrophy, Circulating MicroRNA, 030104 developmental biology, Immunology, Disease Models, medicine.symptom, business, 030217 neurology & neurosurgery
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10
المؤلفون: Gabriele Siciliano, Sonia Messina, David Gómez-Andrés, A. Reghan Foley, Luisa Politano, Pascal Sabouraud, Hirofumi Komaki, Rachel Alvarez, Adele D'Amico, Sandra Donkervoort, Pomi Yun, Vincent Laugel, Gina Norato, Hui Xiong, Lorenzo Maggi, Edmar Zanoteli, Susana Quijano-Roy, Monique M. Ryan, Thomas Voit, Gisèle Bonne, Ulrike Schara, Claudia Castiglioni, Ricardo Erazo-Torricelli, Carsten G. Bönnemann, Karin Kleinsteuber, Rabah Ben Yaou, Chiara Marini-Bettolo, Emmanuelle Lagrue, M. Mayer, Tyler Mark Pierson, Anna Sarkozy, Isabelle Desguerre, Sandra Mercier, Ivana Dabaj, Andrés Nascimento, Marta Bertoli, Nicolas Deconinck, Francesco Muntoni, Liliana Vercelli, Eugenio Mercuri, Akihiko Ishiyama, Soledad Monges, Grace Yoon, Juliana Gurgel-Giannetti
المساهمون: Institut Català de la Salut, [Ben Yaou R] Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France. APHP-Sorbonne Université, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Service de Neuromyologie, Institute de Myologie, G.H. Pitié-Salpêtrière Paris F-75013, France. [Yun P, Norato G, Donkervoort S] Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. [Dabaj I] APHP-Université Paris-Saclay, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Pediatric Neurology and ICU Department, DMU Santé Enfant Adolescent (SEA), Raymond Poincaré University Hospital, Garches France. INSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France. [Xiong H] INSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France. [Gómez-Andrés D] Servei de Neurologia Pediàtrica (ERN-RND - EURO-NMD), Vall d'Hebron Hospital Universitari, Barcelona, Spain. Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
Brain communications, vol 3, iss 3مصطلحات موضوعية: muscular dystrophy, Pediatrics, medicine.medical_specialty, Amino Acids, Peptides, and Proteins::Proteins::Nuclear Proteins::Nuclear Matrix-Associated Proteins::Lamins::Lamin Type A [CHEMICALS AND DRUGS], enfermedades musculoesqueléticas::enfermedades musculares::trastornos musculares atróficos::distrofias musculares [ENFERMEDADES], Intellectual and Developmental Disabilities (IDD), early onset, Medizin, LMNA, Cardiovascular, aminoácidos, péptidos y proteínas::proteínas::proteínas nucleares::proteínas asociadas a la matriz nuclear::laminas::lamina de tipo A [COMPUESTOS QUÍMICOS Y DROGAS], 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Clinical Research, medicine, Genetics, Other subheadings::Other subheadings::/genetics [Other subheadings], Muscular dystrophy, 030304 developmental biology, Pediatric, Distròfia muscular - Fisiologia patològica, 0303 health sciences, Distròfia muscular - Aspectes genètics, business.industry, Otros calificadores::Otros calificadores::/genética [Otros calificadores], laminopathies, General Engineering, Musculoskeletal Diseases::Muscular Diseases::Muscular Disorders, Atrophic::Muscular Dystrophies [DISEASES], medicine.disease, Brain Disorders, Clinical trial, Natural history, Other subheadings::Other subheadings::/pathology [Other subheadings], Musculoskeletal, Cohort, striated muscle, Congenital muscular dystrophy, Age of onset, business, Otros calificadores::Otros calificadores::/patología [Otros calificadores], 030217 neurology & neurosurgery, Natural history study, 4.2 Evaluation of markers and technologies
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e9472afd51351be970c9b9d192e60a7
https://www.ncbi.nlm.nih.gov/pubmed/34240052
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