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1Academic Journal
المؤلفون: Cinzia Bettio, Federico Banchelli, Valentina Salsi, Roberto Vicini, Oscar Crisafulli, Lucia Ruggiero, Giulia Ricci, Elisabetta Bucci, Corrado Angelini, Angela Berardinelli, Silvia Bonanno, Maria Grazia D’Angelo, Antonio Di Muzio, Massimiliano Filosto, Erica Frezza, Lorenzo Maggi, Tiziana Mongini, Elena Pegoraro, Carmelo Rodolico, Marina Scarlato, Gaetano Vattemi, Daniele Velardo, Giuliano Tomelleri, Roberto D’Amico, Giuseppe D’Antona, Rossella Tupler
المصدر: BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: FSHD, Neuromuscular diseases, Sport medicine, Physical activity, Rare disease, Health promotion, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2474
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2Academic Journal
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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3Academic Journal
المؤلفون: Alessandra Angelucci, Andrea Tettamanti, Elisabetta Sarasso, Massimo Filippi, Andrea Aliverti, Marina Scarlato
المصدر: PLoS ONE, Vol 17, Iss 8, p e0271889 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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4Academic Journal
المؤلفون: Serena Pagliarani, Sabrina Lucchiari, Marina Scarlato, Elisa Redaelli, Anna Modoni, Francesca Magri, Barbara Fossati, Stefano C. Previtali, Valeria A. Sansone, Marzia Lecchi, Mauro Lo Monaco, Giovanni Meola, Giacomo P. Comi
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: myotonia, sodium channel myotonia, founder effect, channelopathy, Nav 1.4, mexiletine, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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5Academic Journal
المؤلفون: Giulio Cossu, Stefano C Previtali, Sara Napolitano, Maria Pia Cicalese, Francesco Saverio Tedesco, Francesca Nicastro, Maddalena Noviello, Urmas Roostalu, Maria Grazia Natali Sora, Marina Scarlato, Maurizio De Pellegrin, Claudia Godi, Serena Giuliani, Francesca Ciotti, Rossana Tonlorenzi, Isabella Lorenzetti, Cristina Rivellini, Sara Benedetti, Roberto Gatti, Sarah Marktel, Benedetta Mazzi, Andrea Tettamanti, Martina Ragazzi, Maria Adele Imro, Giuseppina Marano, Alessandro Ambrosi, Rossana Fiori, Maria Pia Sormani, Chiara Bonini, Massimo Venturini, Letterio S Politi, Yvan Torrente, Fabio Ciceri
المصدر: EMBO Molecular Medicine, Vol 7, Iss 12, Pp 1513-1528 (2015)
مصطلحات موضوعية: cell therapy, Duchenne, dystrophin, mesoangioblast, MRI, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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6Academic Journal
المؤلفون: Giulio Cossu, Stefano C Previtali, Sara Napolitano, Maria Pia Cicalese, Francesco Saverio Tedesco, Francesca Nicastro, Maddalena Noviello, Urmas Roostalu, Maria Grazia Natali Sora, Marina Scarlato, Maurizio De Pellegrin, Claudia Godi, Serena Giuliani, Francesca Ciotti, Rossana Tonlorenzi, Isabella Lorenzetti, Cristina Rivellini, Sara Benedetti, Roberto Gatti, Sarah Marktel, Benedetta Mazzi, Andrea Tettamanti, Martina Ragazzi, Maria Adele Imro, Giuseppina Marano, Alessandro Ambrosi, Rossana Fiori, Maria Pia Sormani, Chiara Bonini, Massimo Venturini, Letterio S Politi, Yvan Torrente, Fabio Ciceri
المصدر: EMBO Molecular Medicine, Vol 8, Iss 12, Pp 1470-1471 (2016)
مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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7Academic Journal
المؤلفون: Cristina Rivellini, Giorgia Dina, Emanuela Porrello, Federica Cerri, Marina Scarlato, Teuta Domi, Daniela Ungaro, Ubaldo Del Carro, Alessandra Bolino, Angelo Quattrini, Giancarlo Comi, Stefano C Previtali
المصدر: PLoS ONE, Vol 7, Iss 2, p e32059 (2012)
وصف الملف: electronic resource
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8
المؤلفون: Alessandra Angelucci, Marco Damiani, Andrea Aliverti, Marina Scarlato
المصدر: Computer Methods and Programs in Biomedicine. 238:107621
مصطلحات موضوعية: Health Informatics, Software, Computer Science Applications
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9
المؤلفون: Raffaella Fazio, Paige Howard, Tiffany Grider, Michael E. Shy, Stefano C. Previtali, Marina Scarlato, Angelo Quattrini, Alexa Bacha, Shawna M. E. Feely
المصدر: Journal of the Peripheral Nervous System. 26:177-183
مصطلحات موضوعية: medicine.medical_specialty, Nonsense-mediated decay, medicine.disease_cause, Mice, 03 medical and health sciences, Myelin, 0302 clinical medicine, Sensory ataxia, Charcot-Marie-Tooth Disease, Mutant protein, Internal medicine, medicine, Animals, Humans, Myelin Sheath, Loss function, Mutation, business.industry, General Neuroscience, Myelin protein zero, Electrophysiological Phenomena, Endocrinology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Neurology (clinical), medicine.symptom, Haploinsufficiency, business, Myelin P0 Protein, 030217 neurology & neurosurgery
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10
المؤلفون: Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
المساهمون: Rossi, S, Rubegni, A, Riso, V, Barghigiani, M, Bassi, Mt, Battini, R, Bertini, E, Cereda, C, Cioffi, E, Criscuolo, C, Dal Fabbro, B, Dato, C, D'Angelo, Mg, Di Muzio, A, Diamanti, L, Dotti, Mt, Filla, A, Gioiosa, V, Liguori, R, Martinuzzi, A, Massa, R, Mignarri, A, Moroni, R, Musumeci, O, Nicita, F, Orologio, I, Orsi, L, Pegoraro, E, Petrucci, A, Plumari, M, Ricca, I, Rizzo, G, Romano, S, Rumore, R, Sampaolo, S, Scarlato, M, Seri, M, Stefan, C, Straccia, G, Tessa, A, Travaglini, L, Trovato, R, Ulgheri, L, Vazza, G, Orlacchio, A, Silvestri, G, Santorelli, Fm, Melone, Mab, Casali, C., Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C.
مصطلحات موضوعية: Settore MED/26 - NEUROLOGIA, spastic paraplegia, HSP, SPAST, SPG4, spastic paraplegia, degeneration of the corticospinal tract, Hereditary spastic paraplegia, HSP, SPAST, inherited rare neurologic disorder, Neurology (clinical), SPG4, Spastic paraplegia type 4, Genetics (clinical)
وصف الملف: ELETTRONICO
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11
المؤلفون: Per Harald Jonson, Mridul Johari, Stefano C. Previtali, Peter Hackman, Maria Elena Onore, Mathias Gautel, Manu Jokela, Marina Scarlato, Bjarne Udd, Vincenzo Nigro, Simonetta Gerevini, Anna Vihola, Marco Savarese, Annalaura Torella, Sanna Huovinen
المساهمون: Medicum, Department of Medical and Clinical Genetics, Tampere University, Clinical Medicine, Department of Pathology, Department of Neurosciences and Rehabilitation, Savarese, Marco, Vihola, Anna, Jokela, Manu E, Huovinen, Sanna Pauliina, Gerevini, Simonetta, Torella, Annalaura, Johari, Mridul, Scarlato, Marina, Jonson, Per Harald, Onore, Maria Elena, Hackman, Peter, Gautel, Mathia, Nigro, Vincenzo, Previtali, Stefano Carlo, Udd, Bjarne
المصدر: Neurology: Genetics
article-version (Version of Record) 3
Neurology Geneticsمصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, Candidate gene, 3124 Neurology and psychiatry, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Myopathy, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Muscle biopsy, medicine.diagnostic_test, business.industry, 1184 Genetics, developmental biology, physiology, Facial weakness, 3. Good health, Facial muscles, medicine.anatomical_structure, Shoulder girdle, 3111 Biomedicine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: fulltext
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12
المؤلفون: Jonathan Baets, Annarita Miluzio, Fabiana Longo, Stefano Biffo, Marina Scarlato, Daniele De Ritis, Francesca Maltecca, Davide Fraticelli, Filippo M. Santorelli
مصطلحات موضوعية: Genetics, Mutation, Mutant, medicine, Missense mutation, Biology, Spastic ataxia, Age of onset, Compound heterozygosity, medicine.disease_cause, Gene, Phenotype
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13
المؤلفون: Carlo Casali, Lucia Ulgheri, Alessandro Filla, Maria Teresa Bassi, Antonio Di Muzio, Filippo M. Santorelli, Cristina Cereda, Olimpia Musumeci, Maria Teresa Dotti, Vittorio Riso, Ilaria Orologio, Antonio Orlacchio, Clemente Dato, Laura Orsi, Gabriella Silvestri, Cristina Stefan, Silvia Romano, Andrea Mignarri, Andrea Martinuzzi, Giovanni Rizzo, Chiara Criscuolo, Antonio Petrucci, Luca Diamanti, Francesco Nicita, Salvatore Rossi, Giovanni Vazza, Marco Seri, Mariarosa A. B. Melone, Rocco Liguori, Rossana Moroni, Giulia Straccia, Maria Grazia D'Angelo, Enrico Bertini, Massimo Plumari, Roberto Massa, Beatrice Dal Fabbro, Elena Pegoraro, Marina Scarlato
مصطلحات موضوعية: Gerontology, Neurology, Collaborative network, Neurology (clinical), Psychology, Large cohort
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14
المؤلفون: Giacomo, Sferruzza, Andrea, Del Bondio, Andrea, Citterio, Paolo, Vezzulli, Simone, Guerrieri, Marta, Radaelli, Filippo, Martinelli Boneschi, Massimo, Filippi, Francesca, Maltecca, Maria Teresa, Bassi, Marina, Scarlato
المصدر: Neurology: Genetics
article-version (Version of Record) 3مصطلحات موضوعية: Clinical/Scientific Notes
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15
المؤلفون: Giacomo Torini, Sara Benedetti, Stefano C. Previtali, Grazia D'Angelo, Daniela Di Bella, Lorenzo Maggi, Bruno Colombo, Daniele Velardo, Marina Mora, Marina Scarlato, Paolo Vezzulli, Cinzia Gellera, Alessandra Ruggieri
المصدر: Muscle & Nerve. 59:E33-E37
مصطلحات موضوعية: Adult, Male, Cerebellum, Pathology, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, Physiology, Filamins, Central nervous system disease, Cellular and Molecular Neuroscience, Atrophy, Physiology (medical), medicine, Humans, FLNC, Muscle, Skeletal, Cerebellar ataxia, business.industry, Siblings, Middle Aged, medicine.disease, Spinal cord, Magnetic Resonance Imaging, Pedigree, medicine.anatomical_structure, Spinal Cord, Mutation (genetic algorithm), Female, Neurology (clinical), medicine.symptom, business, Myopathies, Structural, Congenital
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16
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 Reportsمصطلحات 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
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المؤلفون: Massimo Filippi, Filippo Martinelli Boneschi, Giacomo Sferruzza, Marina Scarlato, Paolo Vezzulli, Marta Radaelli, Andrea Citterio, Andrea Del Bondio, Francesca Maltecca, Simone Guerrieri, Maria Teresa Bassi
المساهمون: Sferruzza, Giacomo, Del Bondio, Andrea, Citterio, Andrea, Vezzulli, Paolo, Guerrieri, Simone, Radaelli, Marta, Martinelli Boneschi, Filippo, Filippi, Massimo, Maltecca, Francesca, Bassi, Maria Teresa, Scarlato, Marina
المصدر: Neurology Genetics. 7:e573
مصطلحات موضوعية: 0301 basic medicine, Ataxia, biology, business.industry, Mitochondrial translation, Activator (genetics), Cytochrome c oxidase subunit I, medicine.disease, Molecular biology, Leukoencephalopathy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, biology.protein, Cytochrome c oxidase, Neurology (clinical), medicine.symptom, Myopathy, business, Gene, 030217 neurology & neurosurgery, Genetics (clinical)
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18
المؤلفون: Maria Grazia Natali Sora, Alessandro Ambrosi, Antonella Iadanza, Andrea Tettamanti, Fabio Ciceri, Massimo Venturini, Clementina Sitzia, Claudia Godi, Stefano C. Previtali, Giulio Cossu, Corrado Santarosa, Letterio S. Politi, Andrea Falini, Marina Scarlato, Sara Napolitano, Yvan Torrente, Simonetta Gerevini, Maria Pia Cicalese, Francesca Nicastro, Roberto Cazzolla Gatti
المساهمون: Godi, Claudia, Ambrosi, Alessandro, Nicastro, Francesca, Previtali, Stefano C, Santarosa, Corrado, Napolitano, Sara, Iadanza, Antonella, Scarlato, Marina, Natali Sora, Maria Grazia, Tettamanti, Andrea, Gerevini, Simonetta, Cicalese, Maria Pia, Sitzia, Clementina, Venturini, Massimo, Falini, Andrea, Gatti, Roberto, Ciceri, Fabio, Cossu, Giulio, Torrente, Yvan, Politi, Letterio S.
المصدر: Annals of Clinical and Translational Neurology
Godi, C, Ambrosi, A, Nicastro, F, Previtali, S C, Santarosa, C, Napolitano, S, Iadanza, A, Scarlato, M, Natali Sora, M G, Tettamanti, A, Gerevini, S, Cicalese, M P, Sitzia, C, Venturini, M, Falini, A, Gatti, R, Ciceri, F, Cossu, G, Torrente, Y & Politi, L S 2016, ' Longitudinal MRI quantification of muscle degeneration in Duchenne muscular dystrophy ', Annals of clinical and translational neurology, vol. 3, no. 8, pp. 607-22 . https://doi.org/10.1002/acn3.319مصطلحات موضوعية: Pathology, medicine.medical_specialty, Percentile, medicine.diagnostic_test, business.industry, General Neuroscience, Duchenne muscular dystrophy, Disease progression, Fat infiltration, Magnetic resonance imaging, Muscle degeneration, Muscle volume, medicine.disease, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Ambulatory, medicine, Journal Article, Neurology (clinical), Nuclear medicine, business, 030217 neurology & neurosurgery, Research Articles, Research Article
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المؤلفون: Andrea Citterio, Alessandra Barbieri, Elena Panzeri, Claudia Godi, Marina Scarlato, Maria Teresa Bassi
المصدر: Journal of Neurology. 264:2021-2023
مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Mutation (genetic algorithm), Neurology (clinical), Biology, Gene, Exome, 030217 neurology & neurosurgery, Exome sequencing
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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