المؤلفون: Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni, Giorgio Tasca, Mauro Monforte, Stefania Zampatti, Guido Primiano, Cristina Sancricca, Sara Bortolani, Eleonora Torchia, Beatrice Ravera, Francesca Torri, Giulio Gadaleta, Barbara Risi, Filomena Caria, Francesca Gerardi, Elena Carraro, Valeria Gioiosa, Matteo Garibaldi, Laura Tufano, Erica Frezza, Roberto Massa, Carlo Caltagirone, Elena Maria Pennisi, Antonio Petrucci, Marika Pane, Annalia Frongia, Francesca Gragnani, Marianna Scutifero, Paola Mandich, Marina Grandis, Maria Antonietta Maioli, Carlo Casali, Elisabetta Manfroi, Luisa Politano, Luigia Passamano, Roberta Petillo, Carmelo Rodolico, Alessia Pugliese, Stefano Carlo Previtali, Valeria Sansone, Liliana Vercelli, Tiziana Enrica Mongini, Giulia Ricci, Gabriele Siciliano, Massimiliano Filosto, Enzo Ricci, Raffaella Cascella, Emiliano Giardina, FSHD Italian Clinical Group

المصدر: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Neuromuscular diseases, FSHD, FSHD signature, FSHD diagnosis, Epigenetic biomarker, DNA methylation, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/0d15d9c849414d05b47cb23663857b6e

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

Relation: https://www.mdpi.com/1467-3045/45/4/186; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/1f77ff0f42694a7eb9d9729bb0e05731

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

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00646/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/1a3f02ad30c0483c9785aa5d4fd702c8

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

Relation: https://www.mdpi.com/2073-4409/9/6/1532; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/ae21da996c0c4d5f9ab438a12d84dbf7

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

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00160/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/7931073aca1246778e3661921e59ae34

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; Volume 21; Issue 7; Pages: 2635

مصطلحات موضوعية: FSHD, D4Z4 reduced allele, DNA methylation, genotype–phenotype correlation, molecular diagnosis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Neurobiology; https://dx.doi.org/10.3390/ijms21072635

الاتاحة: https://doi.org/10.3390/ijms21072635

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 Bleecker, Lorenzo Peverelli, Maurizio Moggio, Eugenio Mercuri, Antonio Toscano, Marina Mora, Lucio Santoro, Tiziana Mongini, Enrico Bertini, Claudio Bruno, Carlo Minetti, Giacomo Comi, Filippo Santorelli, Corrado Angelini, Luisa Politano, Giulio Piluso, Vincenzo Nigro

المصدر: Genes; Volume 9; Issue 11; Pages: 524

مصطلحات موضوعية: copy number variants, skeletal muscle disorders, next-generation sequencing, variants of uncertain significance

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes9110524

الاتاحة: https://doi.org/10.3390/genes9110524

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0146227c06416740e586df993a66d1
https://doi.org/10.1080/17512433.2019.1634543

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 3

مصطلحات 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

المؤلفون: Rabah, Ben Yaou, Pomi, Yun, Ivana, Dabaj, Gina, Norato, Sandra, Donkervoort, Hui, Xiong, Andrés, Nascimento, Lorenzo, Maggi, Anna, Sarkozy, Soledad, Monges, Marta, Bertoli, Hirofumi, Komaki, Michèle, Mayer, Eugenio, Mercuri, Edmar, Zanoteli, Claudia, Castiglioni, Chiara, Marini-Bettolo, Adele, D'Amico, Nicolas, Deconinck, Isabelle, Desguerre, Ricardo, Erazo-Torricelli, Juliana, Gurgel-Giannetti, Akihiko, Ishiyama, Karin S, Kleinsteuber, Emmanuelle, Lagrue, Vincent, Laugel, Sandra, Mercier, Sonia, Messina, Luisa, Politano, Monique M, Ryan, Pascal, Sabouraud, Ulrike, Schara, Gabriele, Siciliano, Liliana, Vercelli, Thomas, Voit, Grace, Yoon, Rachel, Alvarez, Francesco, Muntoni, Tyler M, Pierson, David, Gómez-Andrés, A, Reghan Foley, Susana, Quijano-Roy, Carsten G, Bönnemann, Gisèle, Bonne

المصدر: Brain Communications

مصطلحات موضوعية: muscular dystrophy, AcademicSubjects/SCI01870, laminopathies, striated muscle, early onset, LMNA, Original Article, AcademicSubjects/MED00310

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::72e871e4b9d150ef8d59b34bcdce8628
https://pubmed.ncbi.nlm.nih.gov/34240052

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 & Wilkins

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fcda52c7f58c88ad9e3a6b33934c2bd
https://doi.org/10.1038/s41436-018-0103-8

المؤلفون: Maria Teresa Dotti, Roberta Petillo, Maria Rosaria Carratù, Paola Imbrici, Diana Conte, Liliana Vercelli, Jean-François Desaphy, Paola D'Ambrosio, Sabrina Lucchiari, Gianna Ulzi, Giacomo P. Comi, Tiziana Mongini, Emma Matthews, Michael G. Hanna, Mauro Lo Monaco, Dalila Sahbani, Giovanni Meola, Rosanna Cardani, Luisa Politano, Concetta Altamura

المساهمون: Altamura, Concetta, Lucchiari, Sabrina, Sahbani, Dalila, Ulzi, Gianna, Comi, Giacomo P., D'Ambrosio, Paola, Petillo, Roberta, Politano, Luisa, Vercelli, Liliana, Mongini, Tiziana, Dotti, Maria Teresa, Cardani, Rosanna, Meola, Giovanni, Lo Monaco, Mauro, Matthews, Emma, Hanna, Michael G., Carratù, Maria Rosaria, Conte, Diana, Imbrici, Paola, Desaphy, Jean-François

المصدر: Human Mutation. 39:1273-1283

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Patch-Clamp Techniques, Adolescent, ClC-1, DNA Mutational Analysis, Protein domain, Mutant, Peptide, Biology, medicine.disease_cause, patch clamp, 03 medical and health sciences, 0302 clinical medicine, Genetic, Protein Domains, Chloride Channels, C-terminal, myotonia congenita, Genetics, Genetics (clinical), medicine, Humans, Amino Acids, Female, Ion Channel Gating, Middle Aged, Mutation, Myotonia Congenita, Peptides, chemistry.chemical_classification, Myotonia congenita, medicine.disease, Molecular biology, Phenotype, Amino acid, 030104 developmental biology, chemistry, Chloride channel, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bde7db436ddd2d35917408d63ccc88e8
https://doi.org/10.1002/humu.23581

المؤلفون: Nicola Carboni, Chiara Lanzuolo, Elisa Schena, Lucio Santoro, Tiziana Mongini, Elena Biagini, Lucia Morandi, Gisèle Bonne, Giovanna Lattanzi, Lorenzo Maggi, Patrizia Sabatelli, Giulia Ricci, Lucia Ruggiero, Cristina Cappelletti, Marta Columbaro, Luisa Politano, Antoine Muchir, Giuseppe Boriani, Camilla Evangelisti, Sabino Prencipe, Gabriele Siciliano, Elena Pegoraro, Pia Bernasconi, Paola Cavalcante, Liliana Vercelli, Carmelo Rodolico

المساهمون: Fondazione IRCCS Istituto Neurologico 'Carlo Besta', University of Pisa - Università di Pisa, Second University of Naples-Caserta, University of Naples Federico II, University of Turin, Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), Università degli Studi di Modena e Reggio Emilia, Universita degli Studi di Padova, Istituto Nazionale Genetica Molecolare [Milano] (INGM), Fondazione Santa Lucia [IRCCS], Clinical and Behavioral Neurology [IRCCS Santa Lucia], 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), Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Bernasconi, Pia, Carboni, Nicola, Ricci, Giulia, Siciliano, Gabriele, Politano, Luisa, Maggi, Lorenzo, Mongini, Tiziana, Vercelli, Liliana, Rodolico, Carmelo, Biagini, Elena, Boriani, Giuseppe, Ruggiero, Lucia, Santoro, Lucio, Schena, Elisa, Prencipe, Sabino, Evangelisti, Camilla, Pegoraro, Elena, Morandi, Lucia, Columbaro, Marta, Lanzuolo, Chiara, Sabatelli, Patrizia, Cavalcante, Paola, Cappelletti, Cristina, Bonne, Gisèle, Muchir, Antoine, Lattanzi, Giovanna, Bernasconi P., Carboni N., Ricci G., Siciliano G., Politano L., Maggi L., Mongini T., Vercelli L., Rodolico C., Biagini E., Boriani G., Ruggiero L., Santoro L., Schena E., Prencipe S., Evangelisti C., Pegoraro E., Morandi L., Columbaro M., Lanzuolo C., Sabatelli P., Cavalcante P., Cappelletti C., Bonne G., Muchir A., Lattanzi G.

المصدر: Nucleus
Nucleus, Taylors and Francis, 2018, 9 (1), pp.337-349. ⟨10.1080/19491034.2018.1467722⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Basic fibroblast growth factor, LMNA, chemistry.chemical_compound, Mice, Transforming growth factor beta 2 (TGF b2), Medicine, Muscular Dystrophy, Muscular dystrophy, Emery–Dreifuss muscular dystrophy, LMNA gene, Cells, Cultured, lamin A/C, muscle fibrosis, Mice, Knockout, Cultured, tendon fibrosis, biology, Myogenesis, Emery-Dreifuss, Cell Differentiation, Middle Aged, Muscular Dystrophy, Emery-Dreifuss, 3. Good health, Laminopathie, Transforming growth factor beta 2 (TGF β2), Fibroblast, Female, Interleukin 17, Human, musculoskeletal diseases, Adult, Cells, Knockout, Muscle Cell, Dilated Cardiomyopathy (CMD1A), Emery-Dreifuss Muscular Dystrophy type 2 (EDMD2), Laminopathies, Limb-Girdle muscular Dystrophy 1B (LGMD1B), muscular differentiation, 03 medical and health sciences, Transforming Growth Factor beta2, Young Adult, Lamin A/C, Muscle fibrosis, Muscular differentiation, Tendon fibrosis, Animals, Fibroblasts, Humans, Muscle Cells, Tenocytes, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Interleukin 6, Animal, Muscular Dystrophy, Emery-Dreifu, business.industry, muscle fibrosi, Cell Biology, Transforming growth factor beta, Tenocyte, medicine.disease, 030104 developmental biology, chemistry, biology.protein, Cancer research, business, Tendon fibrosi, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34680d56058eacc019f8c7663f233282
http://europepmc.org/articles/PMC5973167

المؤلفون: Gabriele Siciliano, Giovanni Antonini, Stefano C. Previtali, Silvia Tripodi, Francesco Sera, Maria Antonietta Maioli, Marina Scarlato, Giuliano Tomelleri, Fabiano Mele, Angela Berardinelli, Tiziana Mongini, Corrado Angelini, Liliana Vercelli, Luisa Villa, Elisabetta Bucci, Maria Grazia D'Angelo, Lucio Santoro, Lorenzo Maggi, Rachele Piras, Giulia Ricci, Maurizio Moggio, Roberta Telese, Antonio Di Muzio, Elena Pegoraro, Massimiliano Filosto, Monica Govi, Lucia Ruggiero, Carmelo Rodolico, Cinzia Bettio, Rossella Tupler

المساهمون: Ricci, G., Mele, F., Govi, M., Ruggiero, L., Sera, F., Vercelli, L., Bettio, C., Santoro, L., Mongini, T., Villa, L., Moggio, M., Filosto, M., Scarlato, M., Previtali, S. C., Tripodi, S. M., Pegoraro, E., Telese, R., Di Muzio, A., Rodolico, C., Bucci, E., Antonini, G., D'Angelo, M. G., Berardinelli, A., Maggi, L., Piras, R., Maioli, M. A., Siciliano, G., Tomelleri, G., Angelini, C., Tupler, R.

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Weakness, Genotype, Facioscapulohumeral, Science, Genetic counseling, 030105 genetics & heredity, Article, 03 medical and health sciences, Medical research, 0302 clinical medicine, medicine, Facioscapulohumeral muscular dystrophy, Humans, Muscular Dystrophy, Allele, Myopathy, Alleles, Genetics, FSHD, Multidisciplinary, Molecular medicine, business.industry, Facial weakness, Female, Muscular Dystrophy, Facioscapulohumeral, Phenotype, medicine.disease, Penetrance, D4Z4 borderline alleles, Genotype-Phenotype, Neurology, Risk factors, Medicine, medicine.symptom, business, 030217 neurology & neurosurgery, facioscapulohumeral muscular dystrophy D4Z$ fragment borderline, Human

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ccf4bfb92dfb033cc222e478de4938
http://hdl.handle.net/2318/1785955

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d3efb8e2b04ac6ed67da616e31cfcf9
http://hdl.handle.net/11588/752331

المؤلفون: Liliana Vercelli, Ekaterina Rogaeva, Tiziana Mongini, Alessandro Vacca, Mark Grinberg, Annalisa Gai, Silvia Boschi, Ming Zhang, Innocenzo Rainero, Flora Govone, Maria Teresa Giordana, Elisa Rubino

المصدر: Neurobiology of aging. 78

مصطلحات موضوعية: Humans, Mitochondrial Proteins, Mutation, Transcription Factors, Mitochondrial Myopathies, Aging, Letter to the editor, Information retrieval, Computer science, General Neuroscience, DNA-Binding Proteins, Neurology (clinical), Geriatrics and Gerontology, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5cbb30040dab701d82b6e938b4b8f0
https://pubmed.ncbi.nlm.nih.gov/30933818

المؤلفون: Corrado Angelini, Giuliano Tomelleri, Fabiano Mele, Stefano C. Previtali, Giovanni Antonini, Angela Berardinelli, Francesco Sera, Liliana Vercelli, Lorenzo Maggi, Massimiliano Filosto, Monica Govi, Antonio Di Muzio, Gabriele Siciliano, Elisabetta Bucci, Rossella Tupler, Louise Maranda, Lucia Ruggiero, Tiziana Mongini, Luisa Villa, Marina Scarlato, Elena Pegoraro, Carmelo Rodolico, Lucio Santoro, Maurizio Moggio, Silvia Tripodi, Giulia Ricci

المصدر: SSRN Electronic Journal.

مصطلحات موضوعية: Proband, medicine.medical_specialty, Longitudinal study, business.industry, Disease, medicine.disease, Asymptomatic, Clinical trial, Internal medicine, medicine, Facioscapulohumeral muscular dystrophy, medicine.symptom, business, Asymptomatic carrier, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c6466f3dc4f880e1884fe21ecfc15fd1
https://doi.org/10.2139/ssrn.3463310

المؤلفون: Anna Galvagni, G. Marrosu, Silvia Bonanno, Cristina Sancricca, Sabrina Ravaglia, Rachele Piras, Giulia Ricci, Tiziana Mongini, Gabriele Siciliano, Virginia Bozzoni, Serenella Servidei, Alberto Lerario, Roberta Telese, Massimiliano Filosto, Lorenzo Maggi, Elena Pegoraro, Maria Antonietta Maioli, Liliana Vercelli, Serena Gallo Cassarino, Alessandro Padovani, Antonio Di Muzio, Paola Tonin, Stefano Cotti Piccinelli, Maurizio Moggio, Michele Sacchini, Antonio Toscano, Maria Alice Donati, Claudio Semplicini, Olimpia Musumeci, Filomena Caria

مصطلحات موضوعية: Male, 030213 general clinical medicine, Vital Capacity, Anti rh-GAA antibodies, Glycogen storage diseases II, GSD II, LOPD, Pompe disease, Gastroenterology, Severity of Illness Index, Cohort Studies, 0302 clinical medicine, Glycogen storage disease type II, Pharmacology (medical), biology, Glycogen Storage Disease Type II, Antibody titer, General Medicine, Enzyme replacement therapy, Middle Aged, Antibodies, Anti-Idiotypic, Titer, Settore MED/26 - NEUROLOGIA, Anti-Idiotypic, Italy, 030220 oncology & carcinogenesis, Cohort, Female, Antibody, Cohort study, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Antibodies, 03 medical and health sciences, FEV1/FVC ratio, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, alpha-Glucosidases, business.industry, nutritional and metabolic diseases, medicine.disease, biology.protein, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad49df6544ba55eab5887ce93abfa516
http://hdl.handle.net/11577/3395066

المؤلفون: Tiziana Mongini, Costanza Lamperti, Massimiliano Filosto, Filippo M. Santorelli, Anna Rubegni, Costanza Simoncini, Alessandro Padovani, Paola Tonin, Valerio Carelli, Stefano Cotti Piccinelli, Giacomo P. Comi, Guido Primiano, Maurizio Moggio, Michelangelo Mancuso, Gabriele Siciliano, Antonio Toscano, Serenella Servidei, Olimpia Musumeci, Anna Galvagni, Liliana Vercelli

المساهمون: Filosto M., Cotti Piccinelli S., Lamperti C., Mongini T., Servidei S., Musumeci O., Tonin P., Santorelli F.M., Simoncini C., Primiano G., Vercelli L., Rubegni A., Galvagni A., Moggio M., Comi G.P., Carelli V., Toscano A., Padovani A., Siciliano G., Mancuso M.

مصطلحات موضوعية: myalgia, cPEO, Male, Mitochondrial diseases, Mitochondrial myopathy, Muscle pain, Myalgia, Mitochondrial Diseases, MELAS syndrome, Kearns–Sayre syndrome, 0302 clinical medicine, Retrospective Studie, 80 and over, Prevalence, 030212 general & internal medicine, Child, Aged, 80 and over, MERRF syndrome, Middle Aged, Adolescent, Adult, Aged, Child, Preschool, Female, Humans, Italy, Phenotype, Retrospective Studies, Young Adult, medicine.anatomical_structure, Neurology, medicine.symptom, Human, medicine.medical_specialty, Lower motor neuron, 03 medical and health sciences, Internal medicine, medicine, Myopathy, Preschool, Neurology (clinical), business.industry, medicine.disease, Mitochondrial disease, Chronic progressive external ophthalmoplegia, business, 030217 neurology & neurosurgery

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53cf05375f567126f1b1627dc8bf97ba
http://hdl.handle.net/11570/3134824