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

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

مصطلحات موضوعية: D4Z4, DNA methylation, Epigenetic biomarker, FSHD, FSHD diagnosi, FSHD signature, Neuromuscular diseases

Relation: info:eu-repo/semantics/altIdentifier/pmid/39438900; info:eu-repo/semantics/altIdentifier/wos/WOS:001340331500001; volume:16; issue:1; journal:CLINICAL EPIGENETICS; https://hdl.handle.net/11573/1726740

الاتاحة: https://hdl.handle.net/11573/1726740
https://doi.org/10.1186/s13148-024-01747-2

المؤلفون: Dosi, Claudia, Rubegni, Anna, Baldacci, Jacopo, Galatolo, Daniele, Doccini, Stefano, Astrea, Guja, Berardinelli, Angela, Bruno, Claudio, Bruno, Giorgia, Comi, Giacomo Pietro, Donati, Maria Alice, Dotti, Maria Teresa, Filosto, Massimiliano, Fiorillo, Chiara, Giannini, Fabio, Gigli, Gian Luigi, Grandis, Marina, Lopergolo, Diego, Magri, Francesca, Maioli, Maria Antonietta, Malandrini, Alessandro, Massa, Roberto, Matà, Sabrina, Melani, Federico, Messina, Sonia, Mignarri, Andrea, Moggio, Maurizio, Pennisi, Elena Maria, Pegoraro, Elena, Ricci, Giulia, Sacchini, Michele, Schenone, Angelo, Sampaolo, Simone, Sciacco, Monica, Siciliano, Gabriele, Tasca, Giorgio, Tonin, Paola, Tupler, Rossella, Valente, Mariarosaria, Volpi, Nila, Cassandrini, Denise, Santorelli, Filippo Maria

المساهمون: Molecular, Cell and Cancer Biology

المصدر: Genes ; 14 ; 2 ; Switzerland

مصطلحات موضوعية: NGS, RYR1-related myopathies, genotype–phenotype correlation, unsupervised cluster analysis

Relation: Genes; https://doi.org/10.3390/genes14020298; Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies. Genes (Basel). 2023 Jan 23;14(2):298. doi:10.3390/genes14020298. PMID: 36833224; PMCID: PMC9956305.; http://hdl.handle.net/20.500.14038/53556

الاتاحة: https://doi.org/10.3390/genes14020298
https://hdl.handle.net/20.500.14038/53556

المؤلفون: Noguera, Nelida Inés, Tavian, Daniela, Angelini, Corrado, Cortese, Francesca, Filosto, Massimiliano, Garibaldi, Matteo, Missaglia, Sara, Smigliani, Ariela, Zaza, Alessandra, Pennisi, Elena Maria

المساهمون: Noguera, Nelida Iné, Tavian, Daniela, Angelini, Corrado, Cortese, Francesca, Filosto, Massimiliano, Garibaldi, Matteo, Missaglia, Sara, Smigliani, Ariela, Zaza, Alessandra, Pennisi, Elena Maria

مصطلحات موضوعية: ATGL, NLSD, anaplerosi, cultured fibroblast, glycolysi, lipid storage myopathy, mitochondrial respiration, neutral lipid storage disease type M, triheptanoin

Relation: info:eu-repo/semantics/altIdentifier/pmid/36979387; info:eu-repo/semantics/altIdentifier/wos/WOS:000954065100001; volume:13; issue:3; firstpage:1; lastpage:12; numberofpages:12; journal:BIOMOLECULES; https://hdl.handle.net/11573/1676720; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85151107552

الاتاحة: https://hdl.handle.net/11573/1676720
https://doi.org/10.3390/biom13030452

المؤلفون: Luigetti, Marco, Antonini, Giovanni, Di Paolantonio, Andrea, Gentile, Luca, Grandis, Marina, Leonardi, Luca, Lozza, Alessandro, Manganelli, Fiore, Mazzeo, Anna, Mussinelli, Roberta, My, Filomena, Obici, Laura, Maria Pennisi, Elena, Romozzi, Marina, Russo, Massimo, Sabatelli, Mario, Salvalaggio, Alessandro, Tagliapietra, Matteo, Tozza, Stefano

المصدر: European Journal of Neurology ; volume 29, issue 7, page 2148-2155 ; ISSN 1351-5101 1468-1331

الاتاحة: http://dx.doi.org/10.1111/ene.15325
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.15325
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/ene.15325

المؤلفون: Santarelli, Marialaura, De Giglio, Laura, Altavista, Maria C, Chiò, Adriano, Pennisi, Elena M

المساهمون: Santarelli, Marialaura, De Giglio, Laura, Altavista, Maria C, Chiò, Adriano, Pennisi, Elena M

مصطلحات موضوعية: Amyotrophic lateral sclerosi, Bent spine, C9ORF72, Camptocormia, C9orf72 Protein, Human, Muscular Atrophy, Spinal, Prognosi, Spinal Curvature, Motor Neuron Disease

Relation: info:eu-repo/semantics/altIdentifier/pmid/32683569; info:eu-repo/semantics/altIdentifier/wos/WOS:000549805900001; volume:42; issue:1; firstpage:353; lastpage:355; numberofpages:3; journal:NEUROLOGICAL SCIENCES; http://hdl.handle.net/2318/1776200; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088099945

الاتاحة: http://hdl.handle.net/2318/1776200
https://doi.org/10.1007/s10072-020-04605-0

المؤلفون: Garibaldi, Matteo, Fattori, Fabiana, Pennisi, Elena Maria, Merlonghi, Gioia, Fionda, Laura, Vanoli, Fiammetta, Leonardi, Luca, Bucci, Elisabetta, Morino, Stefania, Micaloni, Andrea, Tartaglione, Tommaso, Uijterwijk, Bas, Zierikzee, Martijn, Ottenheijm, Coen, Bertini, Enrico Silvio, Stoppacciaro, Antonella, Raffa, Salvatore, Salvetti, Marco, Antonini, Giovanni

المصدر: Garibaldi , M , Fattori , F , Pennisi , E M , Merlonghi , G , Fionda , L , Vanoli , F , Leonardi , L , Bucci , E , Morino , S , Micaloni , A , Tartaglione , T , Uijterwijk , B , Zierikzee , M , Ottenheijm , C , Bertini , E S , Stoppacciaro , A , Raffa , S , Salvetti , M & Antonini , G 2021 , ' Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores ' , Neuromuscular Disorders , vol. 31 , ....

الاتاحة: https://research.vumc.nl/en/publications/a67da532-e48a-478b-a238-61750530f3a6
https://doi.org/10.1016/j.nmd.2020.11.012
http://www.scopus.com/inward/record.url?scp=85098620572&partnerID=8YFLogxK

المؤلفون: Garibaldi, Matteo, Nicoletti, Tommaso, Bucci, Elisabetta, Fionda, Laura, Leonardi, Luca, Morino, Stefania, Tufano, Laura, Alfieri, Girolamo, Lauletta, Antonio, Merlonghi, Gioia, Perna, Alessia, Rossi, Salvatore, Ricci, Enzo, Alonso-Pérez, Jorge, Tartaglione, Tommaso, Petrucci, Antonio, Pennisi, Elena Maria, Salvetti, Marco, Cutter, Gary, Diaz-Manera, Jordi, Silvestri, Gabriella, Antonini, Giovanni

مصطلحات موضوعية: Clinical trials, CTG, Muscle atrophy and inflammation, Muscle MRI, Myotonic dystrophy type 1

وصف الملف: application/pdf

Relation: European Journal of Neurology; Vol. 29 (december 2021), p. 843-854; https://ddd.uab.cat/record/282984; urn:10.1111/ene.15174; urn:oai:ddd.uab.cat:282984; urn:pmcid:PMC9299773; urn:pmc-uid:9299773; urn:pmid:34753219; urn:oai:pubmedcentral.nih.gov:9299773; urn:articleid:14681331v29p843

الاتاحة: https://ddd.uab.cat/record/282984

المؤلفون: Pennisi, Elena Maria, Garibaldi, Matteo, Antonini, Giovanni

المساهمون: Pennisi, Elena Maria, Garibaldi, Matteo, Antonini, Giovanni

مصطلحات موضوعية: fao defect, beta-oxidation defect, lipid metabolism disorder, lipid myopathie, lipid storage disease, metabolic myopathie, muscle lipidosis

Relation: info:eu-repo/semantics/altIdentifier/pmid/30477112; info:eu-repo/semantics/altIdentifier/wos/WOS:000455409100009; volume:7; issue:12; firstpage:1; lastpage:24; numberofpages:24; journal:JOURNAL OF CLINICAL MEDICINE; http://hdl.handle.net/11573/1349393; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078815193

الاتاحة: http://hdl.handle.net/11573/1349393
https://doi.org/10.3390/jcm7120472

المؤلفون: 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

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

مصطلحات موضوعية: Congenital muscular dystrophy, Dystroglycanopathie, GMPPB, Genotype-phenotype correlation, Limb-girdle muscular dystrophy

Relation: info:eu-repo/semantics/altIdentifier/pmid/30257713; info:eu-repo/semantics/altIdentifier/wos/WOS:000445759500001; volume:13; issue:1; numberofpages:9; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11568/950094; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054082655; https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0863-x

الاتاحة: http://hdl.handle.net/11568/950094
https://doi.org/10.1186/s13023-018-0863-x
https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0863-x

المؤلفون: Garibaldi Matteo, Fattori Fabiana, Bortolotti Carlo Augusto, Brochier Guy, Labasse Clemence, Verardo Margherita, Servian-Morilla Emilia, Gibellini Lara, Pinti Marcello, Di Rocco Giulia, Raffa Salvatore, Pennisi Elena Maria, Bertini Enrico Silvio, Paradas Carmen, Romero Norma Beatriz, Antonini Giovanni.

المساهمون: Garibaldi, Matteo, Fattori, Fabiana, Bortolotti, Carlo Augusto, Brochier, Guy, Labasse, Clemence, Verardo, Margherita, Servian-Morilla, Emilia, Gibellini, Lara, Pinti, Marcello, Di Rocco, Giulia, Raffa, Salvatore, Pennisi Elena, Maria, Bertini Enrico, Silvio, Paradas, Carmen, Romero Norma, Beatriz, Antonini, Giovanni.

مصطلحات موضوعية: Central core myopathy, Congenital myopathie, Core-rod myopathy, KBTBD13, LGMD, Nemaline myopathy

Relation: info:eu-repo/semantics/altIdentifier/pmid/30208948; info:eu-repo/semantics/altIdentifier/wos/WOS:000444535100001; volume:6; issue:1; firstpage:94; lastpage:101; journal:ACTA NEUROPATHOLOGICA COMMUNICATIONS; http://hdl.handle.net/11380/1166857; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85058016451

الاتاحة: http://hdl.handle.net/11380/1166857
https://doi.org/10.1186/s40478-018-0595-0

المؤلفون: Inés Noguera, Nelida, Tavian, Daniela, Angelini, Corrado, Cortese, Francesca, Filosto, Massimiliano, Garibaldi, Matteo, Missaglia, Sara, Smigliani, Ariela, Zaza, Alessandra, Maria Pennisi, Elena, Daniela Tavian (ORCID:0000-0003-3333-0068), Sara Missaglia (ORCID:0000-0001-6551-6698)

مصطلحات الفهرس: triheptanoin, neutral lipid storage disease type M, NLSD, ATGL, lipid storage myopathy, mitochondrial respiration, glycolysis, anaplerosis, cultured fibroblast, Settore BIO/10 - BIOCHIMICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/232168
info:eu-repo/semantics/altIdentifier/pmid/36979387
issue:13
firstpage:1
lastpage:12
numberofpages:12
issueyear:2023
journal:BIOMOLECULES

المؤلفون: Previtali, Stefano C., Zhao, Edward, Lazarevic, Dejan, Pipitone, Giovanni Battista, Fabrizi, Gian Maria, Manganelli, Fiore, Mazzeo, Anna, Pareyson, Davide, Schenone, Angelo, Taroni, Franco, Vita, Giuseppe, Bellone, Emilia, Ferrarini, Moreno, Garibaldi, Matteo, Magri, Stefania, Padua, Luca, Pennisi, Elena, Pisciotta, Chiara, Riva, Nilo, Scaioli, Vidmer, Scarlato, Marina, Tozza, Stefano, Geroldi, Alessandro, Jordanova, Albena, Ferrari, Maurizio, Molineris, Ivan, Reilly, Mary M., Comi, Giancarlo, Carrera, Paola, Devoto, Marcella, Bolino, Alessandra

مصطلحات موضوعية: Neuromuscular

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/90/10/1171; http://dx.doi.org/10.1136/jnnp-2019-320717

الاتاحة: http://jnnp.bmj.com/cgi/content/short/90/10/1171
https://doi.org/10.1136/jnnp-2019-320717

المؤلفون: Angelini, Corrado, Pennisi, Elena, Missaglia, Sara, Tavian, Daniela

المساهمون: Fondazione Telethon, EuroBiobank, Biobank BBMRNR

المصدر: Therapeutic Advances in Neurological Disorders ; volume 12, page 175628641984335 ; ISSN 1756-2864 1756-2864

الاتاحة: http://dx.doi.org/10.1177/1756286419843359
http://journals.sagepub.com/doi/pdf/10.1177/1756286419843359
http://journals.sagepub.com/doi/full-xml/10.1177/1756286419843359

المؤلفون: Cassandrini, Denise, Trovato, Rosanna, Rubegni, Anna, Lenzi, Sara, Fiorillo, Chiara, Baldacci, Jacopo, Minetti, Carlo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo M., Berardinelli, Angela, Bertini, Enrico S., Comi, Giacomo, D'Amico, Adele, Donati, Maria Alice, Dotti, Maria Teresa, Fattori, Fabiana, Grandis, Marina, Maggi, Lorenzo, Magri, Francesca, Maioli, Maria A., Malandrini, Alessandro, Mari, Francesco, Massa, Roberto, Mercuri, Eugenio, Merlini, Luciano, Moggio, Maurizio, Mora, Marina, Morandi, Lucia O., Musumeci, Olimpia, Nigro, Vincenzo, Pane, Marika, Pegoraro, Elena, Pennisi, Elena M., Peverelli, Lorenzo, Ricci, Giulia, Rodolico, Carmelo, Ruggiero, Lucia, SACCHINI, MICHELE, Santoro, Lucio, Savarese, Marco, Siciliano, Gabriele, Simonati, Alessandro, Tonin, Paola, Toscano, Antonio

المساهمون: Cassandrini, Denise, Trovato, Rosanna, Rubegni, Anna, Lenzi, Sara, Fiorillo, Chiara, Baldacci, Jacopo, Minetti, Carlo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo M., Berardinelli, Angela, Bertini, Enrico S., Comi, Giacomo, D'Amico, Adele, Donati, Maria Alice, Dotti, Maria Teresa, Fattori, Fabiana, Grandis, Marina, Maggi, Lorenzo, Magri, Francesca, Maioli, Maria A., Malandrini, Alessandro, Mari, Francesco, Massa, Roberto, Mercuri, Eugenio, Merlini, Luciano, Moggio, Maurizio, Mora, Marina, Morandi, Lucia O., Musumeci, Olimpia, Nigro, Vincenzo, Pane, Marika, Pegoraro, Elena, Pennisi, Elena M., Peverelli, Lorenzo, Ricci, Giulia, Rodolico, Carmelo, Ruggiero, Lucia, Sacchini, Michele, Santoro, Lucio, Savarese, Marco, Siciliano, Gabriele, Simonati, Alessandro, Tonin, Paola, Toscano, Antonio

مصطلحات موضوعية: Congenital myopathy, Muscle biopsy, Muscle MRI, Next generation sequencing, Pediatrics, Perinatology and Child Health

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/29141652; info:eu-repo/semantics/altIdentifier/wos/WOS:000415326000001; volume:43; issue:1; firstpage:1; lastpage:16; numberofpages:16; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11365/1028653; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85034437279; http://www.ijponline.net/

الاتاحة: http://hdl.handle.net/11365/1028653
https://doi.org/10.1186/s13052-017-0419-z
http://www.ijponline.net/

المؤلفون: Pennisi, Elena Maria, Arca, Marcello, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, D'Amico, Adele, Garibaldi, Matteo, Gragnani, Francesca, Maggi, Lorenzo, Massa, Roberto, Missaglia, Sara, Morandi, Lucia, Musumeci, Olimpia, Rastelli, Emanuele, Santorelli, Filippo Maria, Tasca, Elisabetta, Tavian, Daniela, Toscano, Antonio, Angelini, Corrado, PEGORARO, ELENA

المساهمون: Pennisi, Elena Maria, Arca, Marcello, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, D'Amico, Adele, Garibaldi, Matteo, Gragnani, Francesca, Maggi, Lorenzo, Massa, Roberto, Missaglia, Sara, Morandi, Lucia, Musumeci, Olimpia, Pegoraro, Elena, Rastelli, Emanuele, Santorelli, Filippo Maria, Tasca, Elisabetta, Tavian, Daniela, Toscano, Antonio, Angelini, Corrado

مصطلحات موضوعية: CGI58, Lipid metabolism, Myopathy, Natural history, NLSD, PNPLA2, Medicine (all), Genetics (clinical), Pharmacology (medical)

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/28499397; info:eu-repo/semantics/altIdentifier/wos/WOS:000401180700003; volume:12; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11577/3232627; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018879138; http://www.ojrd.com/

الاتاحة: http://hdl.handle.net/11577/3232627
https://doi.org/10.1186/s13023-017-0646-9
http://www.ojrd.com/

المؤلفون: Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, Pennisi, Elena Maria

المساهمون: Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, Pennisi, Elena Maria

مصطلحات موضوعية: ABHD5, Lipid storage disease, Muscle MRI, NLSD, PNPLA2, Neurology, Neurology (clinical)

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/28503705; info:eu-repo/semantics/altIdentifier/wos/WOS:000405291600003; volume:264; issue:7; firstpage:1334; lastpage:1342; numberofpages:9; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11570/3121163; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85019208784

الاتاحة: http://hdl.handle.net/11570/3121163
https://doi.org/10.1007/s00415-017-8498-8

المؤلفون: De Giglio, Laura, Sadun, Federico, Roberti, Cinzia, Polidori, Luigi, Gilardi, Marta, Altavista, Maria Concetta, Pennisi, Elena Maria

المصدر: European Journal of Ophthalmology ; volume 33, issue 3, page NP49-NP51 ; ISSN 1120-6721 1724-6016

الاتاحة: http://dx.doi.org/10.1177/11206721221077800
http://journals.sagepub.com/doi/pdf/10.1177/11206721221077800
http://journals.sagepub.com/doi/full-xml/10.1177/11206721221077800

المؤلفون: 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

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

مصطلحات موضوعية: COVID-19, SARS-CoV-2, myastenia gravis, myopathies, neuromuscular diseases, neuromuscular services, neuropathies

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32904925; volume:39; issue:2; firstpage:57; lastpage:66; numberofpages:10; journal:ACTA MYOLOGICA; http://hdl.handle.net/11562/1024694; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089310759; https://doi.org/10.36185/2532-1900-008; http://www.ncbi.nlm.nih.gov/pmc/articles/pmc7460733/

الاتاحة: http://hdl.handle.net/11562/1024694
https://doi.org/10.36185/2532-1900-008
http://www.ncbi.nlm.nih.gov/pmc/articles/pmc7460733/

المؤلفون: Cruccu, Giorgio, Pennisi, Elena M., Antonini, Giovanni, Biasiotta, Antonella, Di Stefano, Giulia, La Cesa, Silvia, Leone, Caterina, Raffa, Salvatore, Sommer, Claudia, Truini, Andrea

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

Relation: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/11424; urn:nbn:de:bvb:20-opus-114249; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-114249; https://doi.org/10.1186/s12883-014-0248-2; https://opus.bibliothek.uni-wuerzburg.de/files/11424/003_Gruccu_BMC_Neurology.pdf

الاتاحة: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/11424
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-114249
https://doi.org/10.1186/s12883-014-0248-2
https://opus.bibliothek.uni-wuerzburg.de/files/11424/003_Gruccu_BMC_Neurology.pdf

المؤلفون: Tavian, Daniela, Missaglia, Sara, Redaelli, Chiara, Pennisi, Elena M., Invernici, Gloria, Wessalowski, Ruediger, Maiwald, Robert, Arca, Marcello, Coleman, Rosalind A.

مصطلحات موضوعية: Article

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/dds388v1; http://dx.doi.org/10.1093/hmg/dds388

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/dds388v1
https://doi.org/10.1093/hmg/dds388