المؤلفون: Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I., Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A., Santorelli, F. M., Italian CMD Network, Berardinelli, A., Comi, G., Donati, M. A., Dotti, M., Grandis, M., Magri, F., Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Merlini, L., Moggio, M., Morandi, L. O., Musumeci, O., Pane, M., Pini, A., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Siciliano, G., Simonati, A., Tonin, P., Toscano, A.

المساهمون: Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fattori, Fabiana, Fiorillo, Chiara, Guerrini, Renzo, Maggi, Lorenzo, Mercuri, Eugenio, Morani, Federica, Mora, Marina, Moro, Francesca, Pezzini, Ilaria, Picillo, Esther, Pinelli, Michele, Politano, Luisa, Rubegni, Anna, Sanseverino, Walter, Savarese, Marco, Striano, Pasquale, Torella, Annalaura, Trevisan, Carlo Pietro, Trovato, Rosanna, Zaraieva, Irina, Muntoni, Francesco, Nigro, Vincenzo, D'Amico, Adele, Santorelli, Filippo M., Berardinelli, Angela, Comi, Giacomo, Donati, Maria Alice, Dotti, Maria Teresa, Grandis, Marina, Magri, Francesca, Maioli, Maria A, Malandrini, Alessandro, Mari, Francesco, Massa, Roberto, Merlini, Luciano, Moggio, Maurizio, Morandi, Lucia O, Musumeci, Olimpia, Pane, Marika, Pini, Antonella, Pegoraro, Elena, Pennisi, Elena M, Peverelli, Lorenzo, Ricci, Giulia, Rodolico, Carmelo, Ruggiero, Lucia, Sacchini, Michele, Santoro, Lucio, Siciliano, Gabriele, Simonati, Alessandro, Tonin, Paola, Toscano, Antonio, Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I., Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A., Santorelli, F. M., Berardinelli, A., Comi, G., Donati, M. A., Dotti, M. T., Grandis, M., Magri, F., Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Merlini, L., Moggio, M., Morandi, L. O., Musumeci, O., Pane, M., Pini, A., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, Lucio., Siciliano, G., Simonati, A., Tonin, P., Toscano, A., Department of Medical and Clinical Genetics, Medicum

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, Genotype-phenotype correlation, Dystriglycanopathies, lcsh:Medicine, GMPPB, Genotype-phenotype correlations, Dystroglycanopathie, Nucleotidyltransferase, Muscular Dystrophies, Limb-Girdle, 0302 clinical medicine, Missense mutation, Pharmacology (medical), Dystroglycan, Muscular dystrophy, Dystroglycans, Muscular Dystrophie, Genetics (clinical), Genetics, Arthrogryposis, education.field_of_study, 1184 Genetics, developmental biology, physiology, General Medicine, Middle Aged, Nucleotidyltransferases, Dystroglycanopathies, 3. Good health, Congenital muscular dystrophy, Female, Limb-girdle muscular dystrophy, medicine.symptom, Human, Adult, Population, Mutation, Missense, Genetic Association Studie, Biology, Settore MED/26, Aged, Cross-Sectional Studies, Genetic Association Studies, Humans, Muscular Dystrophies, Limb-Girdle, Mutation, Young Adult, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Congenital muscular dystrophy, Dystroglycanopathies, Genotype-phenotype correlations, GMPPB, Limb-girdle muscular dystrophy, Genetics (clinical), Pharmacology (medical), medicine, Congenital muscular dystrophy, Dystroglycanopathies, Genotype-phenotype correlations, GMPPB, Limb-girdle muscular dystrophy, Myopathy, education, SERVER, Cross-Sectional Studie, STABILITY, MUTATIONS, Genetic heterogeneity, Research, lcsh:R, medicine.disease, 030104 developmental biology, CONGENITAL MUSCULAR-DYSTROPHY, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, Missense, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c387aaa6386176223215e1a8301fe0
https://pubmed.ncbi.nlm.nih.gov/30257713

المؤلفون: Pennisi, E. M, Arca, M, Bertini, E, Bruno, C, Cassandrini, D, D'Amico, A, Garibaldi, M, Gragnani, F, Maggi, L, Massa, R, Missaglia, Sara, Morandi, L, Musumeci, O, Pegoraro, E, Rastelli, E, Santorelli, F. M, Tasca, E, Tavian, Daniela, Toscano, A, Angelini, C, Italian, NLSD Group

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Male, 0301 basic medicine, Cross-sectional study, Myopathy, lcsh:Medicine, Disease, Pharmacology, Gene mutation, 0302 clinical medicine, CGI58, Lipid metabolism, Natural history, NLSD, PNPLA2, Medicine (all), Genetics (clinical), Pharmacology (medical), Genotype, Aged, 80 and over, education.field_of_study, Ichthyosis, General Medicine, Middle Aged, Phenotype, CGI58, myopathy, lipid metabolism, natural history, Italy, Female, Adult, medicine.medical_specialty, Adolescent, Population, Settore MED/26, Lipid Metabolism, Inborn Errors, Young Adult, 03 medical and health sciences, Muscular Diseases, Internal medicine, medicine, Humans, Muscle, Skeletal, education, Settore BIO/10 - BIOCHIMICA, Genetic Association Studies, Aged, Retrospective Studies, business.industry, Research, lcsh:R, Retrospective cohort study, Lipase, Ichthyosiform Erythroderma, Congenital, medicine.disease, Respiration, Artificial, Cross-Sectional Studies, 030104 developmental biology, Mutation, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47fe60c8bf07e5feeffb125fd60f9a9a
https://doi.org/10.1186/s13023-017-0646-9

المؤلفون: Polselli, G. M., Pennisi, E. M., Figà Talamanca, L., Roberti, R., Fiume Garelli, F., Bandinelli, P. L.

المصدر: The Italian Journal of Neurological Sciences. April 1998 19(2):124-125

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المؤلفون: Caronti, B., Calandriello, L, Francia, A., Scorretti, L., Manfredi, M., Sansolini, T., Pennisi, E. M., Calderaro, C., Palladini, G.

المصدر: Acta Neurologica Scandinavica; Oct1998, Vol. 98 Issue 4, p259-267, 9p

المؤلفون: Curini, R., Antonelli, M. L., Pennisi, E. M., Calandriello, L., D'Ascenzo, G., Curtis, S. D. Angelis, Palladini, G.

المصدر: Thermochimica Acta; 1996, Vol. 285 Issue: 1 p127-140, 14p

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المؤلفون: Mauri, E, Abati, E, Musumeci, O, Rodolico, C, D'Angelo, Mg, Mirabella, M, Lucchini, M, Bello, L, Pegoraro, E, Maggi, L, Manneschi, L, Gemelli, C, Grandis, M, Zuppa, A, Massucco, S, Benedetti, L, Caponnetto, C, Schenone, A, Prelle, A, Previtali, Sc, Scarlato, M, D'Amico, A, Bertini, E, Pennisi, Em, De Giglio, L, Pane, M, Mercuri, E, Mongini, T, Ricci, F, Berardinelli, A, Astrea, G, Lenzi, S, Battini, R, Ricci, G, Torri, F, Siciliano, G, Santorelli, Fm, Ariatti, A, Filosto, M, Passamano, L, Politano, L, Scutifero, M, Tonin, P, Fossati, B, Panicucci, C, Bruno, C, Ravaglia, S, Monforte, M, Tasca, G, Ricci, E, Petrucci, A, Santoro, L, Ruggiero, L, Barp, A, Albamonte, E, Sansone, V, Gagliardi, D, Costamagna, G, Govoni, A, Magri, F, Brusa, R, Velardo, D, Meneri, M, Sciacco, M, Corti, S, Bresolin, N, Moroni, I, Messina, S, Di Muzio, A, Nigro, V, Liguori, R, Antonini, G, Toscano, A, Minetti, C, Comi, Gp, Italian Association of, Myology.

المساهمون: Mauri, Eleonora, Abati, Elena, Musumeci, Olimpia, Rodolico, Carmelo, D'Angelo, Maria Grazia, Mirabella, Massimiliano, Lucchini, Matteo, Bello, Luca, Pegoraro, Elena, Maggi, Lorenzo, Manneschi, Letizia, Gemelli, Chiara, Grandis, Marina, Zuppa, Angela, Massucco, Sara, Benedetti, Luana, Caponnetto, Claudia, Schenone, Angelo, Prelle, Alessandro, Previtali, Stefano C, Scarlato, Marina, D'Amico, Adele, Bertini, Enrico, Pennisi, Elena M, De Giglio, Laura, Pane, Marika, Mercuri, Eugenio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Astrea, Guja, Lenzi, Sara, Battini, Roberta, Ricci, Giulia, Torri, Francesca, Siciliano, Gabriele, Santorelli, Filippo M, Ariatti, Alessandra, Filosto, Massimiliano, Passamano, Luigia, Politano, Luisa, Scutifero, Marianna, Tonin, Paola, Fossati, Barbara, Panicucci, Chiara, Bruno, Claudio, Ravaglia, Sabrina, Monforte, Mauro, Tasca, Giorgio, Ricci, Enzo, Petrucci, Antonio, Santoro, Lucio, Ruggiero, Lucia, Barp, Andrea, Albamonte, Emilio, Sansone, Valeria, Gagliardi, Delia, Costamagna, Gianluca, Govoni, Alessandra, Magri, Francesca, Brusa, Roberta, Velardo, Daniele, Meneri, Megi, Sciacco, Monica, Corti, Stefania, Bresolin, Nereo, Moroni, Isabella, Messina, Sonia, Di Muzio, Antonio, Nigro, Vincenzo, Liguori, Rocco, Antonini, Giovanni, Toscano, Antonio, Minetti, Carlo, Comi, Giacomo Pietro, Mauri E., Abati E., Musumeci O., Rodolico C., D'Angelo M.G., Mirabella M., Lucchini M., Bello L., Pegoraro E., Maggi L., Manneschi L., Gemelli C., Grandis M., Zuppa A., Massucco S., Benedetti L., Caponnetto C., Schenone A., Prelle A., Previtali S.C., Scarlato M., D'Amico A., Bertini E., Pennisi E.M., de Giglio L., Pane M., Mercuri E., Mongini T., Ricci F., Berardinelli A., Astrea G., Lenzi S., Battini R., Ricci G., Torri F., Siciliano G., Santorelli F.M., Ariatti A., Filosto M., Passamano L., Politano L., Scutifero M., Tonin P., Fossati B., Panicucci C., Bruno C., Ravaglia S., Monforte M., Tasca G., Ricci E., Petrucci A., Santoro L., Ruggiero L., Barp A., Albamonte E., Sansone V., Gagliardi D., Costamagna G., Govoni A., Magri F., Brusa R., Velardo D., Meneri M., Sciacco M., Corti S., Bresolin N., Moroni I., Messina S., Muzio A.D., Nigro V., Liguori R., Antonini G., Toscano A., Minetti C., Comi G.P., Mauri, E., Abati, E., Musumeci, O., Rodolico, C., D'Angelo, M. G., Mirabella, M., Lucchini, M., Bello, L., Pegoraro, E., Maggi, L., Manneschi, L., Gemelli, C., Grandis, M., Zuppa, A., Massucco, S., Benedetti, L., Caponnetto, C., Schenone, A., Prelle, A., Previtali, S. C., Scarlato, M., D'Amico, A., Bertini, E., Pennisi, E. M., de Giglio, L., Pane, M., Mercuri, E., Mongini, T., Ricci, F., Berardinelli, A., Astrea, G., Lenzi, S., Battini, R., Ricci, G., Torri, F., Siciliano, G., Santorelli, F. M., Ariatti, A., Filosto, M., Passamano, L., Politano, L., Scutifero, M., Tonin, P., Fossati, B., Panicucci, C., Bruno, C., Ravaglia, S., Monforte, M., Tasca, G., Ricci, E., Petrucci, A., Santoro, L., Ruggiero, L., Barp, A., Albamonte, E., Sansone, V., Gagliardi, D., Costamagna, G., Govoni, A., Magri, F., Brusa, R., Velardo, D., Meneri, M., Sciacco, M., Corti, S., Bresolin, N., Moroni, I., Messina, S., Muzio, A. D., Nigro, V., Liguori, R., Antonini, G., Toscano, A., Minetti, C., Comi, G. P.

المصدر: Acta Myologica

مصطلحات موضوعية: COVID-19, Myastenia gravis, Myopathies, Neuromuscular diseases, Neuromuscular services, Neuropathies, SARS-CoV-2, neuropathies, Ambulatory Care, Coronavirus Infections, Cross-Sectional Studies, Health Services Accessibility, Hospitalization, Humans, Italy, Neuromuscular Diseases, Pandemics, Pneumonia, Viral, Referral and Consultation, Surveys and Questionnaires, Telemedicine, Betacoronavirus, neuromuscular diseases, myastenia gravis, neuromuscular services, neuromuscular service, Surveys and Questionnaire, Viral, myopathie, Cross-Sectional Studie, Pandemic, Coronavirus Infection, Pneumonia, neuromuscular disease, myastenia gravi, Settore MED/26 - NEUROLOGIA, neuropathie, myopathies, Original Article, Human

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3e93c196887c46b4509bfc054f8059d7
http://hdl.handle.net/11562/1024694

المؤلفون: Antonini G; Department of Neurological Sciences, University 'La Sapienza,' Viale Università 30, 00185 Rome, Italy., Gragnani F, Romaniello A, Pennisi EM, Morino S, Ceschin V, Santoro L, Cruccu G

المصدر: Muscle & nerve [Muscle Nerve] 2000 Feb; Vol. 23 (2), pp. 252-8.

نوع المنشور: Clinical Trial; Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print Cited Medium: Print ISSN: 0148-639X (Print) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

مواضيع طبية MeSH: Hereditary Sensory and Motor Neuropathy/*physiopathology , Muscular Atrophy, Spinal/*physiopathology , Nerve Fibers, Myelinated/*physiology, Aged ; Electrodiagnosis ; Electromyography ; Evoked Potentials/physiology ; Hereditary Sensory and Motor Neuropathy/genetics ; Hereditary Sensory and Motor Neuropathy/pathology ; Humans ; Male ; Middle Aged ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/pathology ; Neural Conduction/physiology ; Reflex/physiology ; Sural Nerve/pathology ; Trigeminal Ganglion/physiopathology