المؤلفون: Fortunato, Fernanda, Tonelli, Laura, Farnè, Marianna, Selvatici, Rita, Ferlini, Alessandra

المصدر: Frontiers in Neurology ; volume 14 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2023.1288721
https://www.frontiersin.org/articles/10.3389/fneur.2023.1288721/full

المؤلفون: Ferlini, Alessandra, Gross, Edith Sky, Garnier, Nicolas, null, null, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela, Müllenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Lysogene, Marie Trad, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, van Olden, Rudolf Walther, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Stefanov, Georgi, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Hübner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farnè, Marianna, Fortunato, Fernanda

المساهمون: Ferlini, Alessandra, Gross, Edith Sky, Garnier, Nicola, Null, Null, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela, Müllenborn, Matthia, Man, Yuen-Sum, Goodman, Liz, Lysogene, Marie Trad, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, van Olden, Rudolf Walther, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Stefanov, Georgi, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Hübner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mat, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farnè, Marianna, Fortunato, Fernanda

مصطلحات موضوعية: Digital health, European Union, Genetic newborn screening, Next generation sequencing, Rare diseases

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37794437; info:eu-repo/semantics/altIdentifier/wos/WOS:001083910100001; volume:18; issue:1; numberofpages:4; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11365/1278558; https://pmc.ncbi.nlm.nih.gov/articles/PMC10548672/

الاتاحة: https://hdl.handle.net/11365/1278558
https://doi.org/10.1186/s13023-023-02916-x
https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02916-x
https://pmc.ncbi.nlm.nih.gov/articles/PMC10548672/

المؤلفون: Fortunato, Fernanda, Bianchi, Francesca, Ricci, Giulia, Torri, Francesca, Gualandi, Francesca, Neri, Marcella, Farnè, Marianna, Giannini, Fabio, Malandrini, Alessandro, Volpi, Nila, Lopergolo, Diego, Silani, Vincenzo, Ticozzi, Nicola, Verde, Federico, Pareyson, Davide, Fenu, Silvia, Bonanno, Silvia, Nigro, Vincenzo, Peduto, Cristina, D'Ambrosio, Paola, Zeuli, Roberta, Zanobio, Mariateresa, Picillo, Esther, Servidei, Serenella, Primiano, Guido, Sancricca, Cristina, Sciacco, Monica, Brusa, Roberta, Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pegoraro, Elena, Mongini, Tiziana, Solero, Luca, Gadaleta, Giulio, Brusa, Chiara, Minetti, Carlo, Bruno, Claudio, Panicucci, Chiara, Sansone, Valeria A, Lunetta, Christian, Zanolini, Alice, Toscano, Antonio, Pugliese, Alessia, Nicocia, Giulia, Bertini, Enrico, Catteruccia, Michela, Diodato, Daria, Atalaia, Antonio, Evangelista, Teresinha, Siciliano, Gabriele, Ferlini, Alessandra

المساهمون: Fortunato, Fernanda, Bianchi, Francesca, Ricci, Giulia, Torri, Francesca, Gualandi, Francesca, Neri, Marcella, Farnè, Marianna, Giannini, Fabio, Malandrini, Alessandro, Volpi, Nila, Lopergolo, Diego, Silani, Vincenzo, Ticozzi, Nicola, Verde, Federico, Pareyson, Davide, Fenu, Silvia, Bonanno, Silvia, Nigro, Vincenzo, Peduto, Cristina, D'Ambrosio, Paola, Zeuli, Roberta, Zanobio, Mariateresa, Picillo, Esther, Servidei, Serenella, Primiano, Guido, Sancricca, Cristina, Sciacco, Monica, Brusa, Roberta, Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pegoraro, Elena, Mongini, Tiziana, Solero, Luca, Gadaleta, Giulio, Brusa, Chiara, Minetti, Carlo, Bruno, Claudio, Panicucci, Chiara, Sansone, Valeria A, Lunetta, Christian, Zanolini, Alice, Toscano, Antonio, Pugliese, Alessia, Nicocia, Giulia, Bertini, Enrico, Catteruccia, Michela, Diodato, Daria, Atalaia, Antonio, Evangelista, Teresinha, Siciliano, Gabriele, Ferlini, Alessandra

مصطلحات موضوعية: CPMS, Digital health, ERN, Rare disease, Telemedicine

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37480080; info:eu-repo/semantics/altIdentifier/wos/WOS:001036943200011; volume:18; issue:1; firstpage:196; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11577/3493363; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85165384178

الاتاحة: https://hdl.handle.net/11577/3493363
https://doi.org/10.1186/s13023-023-02776-5

المؤلفون: Garnier, Nicolas, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela, Müllenborn, Matthias, Man, Yuen-Sum, Goodman, Liz, Trad, Marie, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, Walther van Olden, Rudolf, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Gross, Edith, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Hübner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mats, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farnè, Marianna, Fortunato, Fernanda, Ferlini, Alessandra

المساهمون: Garnier, Nicola, Berghout, Joanne, Zygmunt, Aldona, Singh, Deependra, Huang, Kui A., Kantz, Waltraud, Blankart, Carl Rudolf, Gillner, Sandra, Zhao, Jiawei, Roettger, Richard, Saier, Christina, Kirschner, Jan, Schenk, Joern, Atkins, Leon, Ryan, Nuala, Zarakowska, Kaja, Zschüntzsch, Jana, Zuccolo, Michela, Müllenborn, Matthia, Man, Yuen-Sum, Goodman, Liz, Trad, Marie, Chalandon, Anne Sophie, Sansen, Stefaan, Martinez-Fresno, Maria, Badger, Shirlene, Walther van Olden, Rudolf, Rothmann, Robert, Lehner, Patrick, Tschohl, Christof, Baillon, Ludovic, Gumus, Gulcin, Gross, Edith, Stefanov, Rumen, Iskrov, Georgi, Raycheva, Ralitsa, Kostadinov, Kostadin, Mitova, Elena, Einhorn, Moshe, Einhorn, Yaron, Schepers, Josef, Hübner, Miriam, Alves, Frauke, Iskandar, Rowan, Mayer, Rudolf, Renieri, Alessandra, Piperkova, Aneta, Gut, Ivo, Beltran, Sergi, Matthiesen, Mads Emil, Poetz, Marion, Hansson, Mat, Trollmann, Regina, Agolini, Emanuele, Ottombrino, Silvia, Novelli, Antonio, Bertini, Enrico, Selvatici, Rita, Farnè, Marianna, Fortunato, Fernanda, Ferlini, Alessandra

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37992053; info:eu-repo/semantics/altIdentifier/wos/WOS:001123197700050; volume:18; issue:11; firstpage:e0293503-1; lastpage:e0293503-14; numberofpages:14; journal:PLOS ONE; https://hdl.handle.net/11392/2543390; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85177818683; https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0293503

الاتاحة: https://hdl.handle.net/11392/2543390
https://doi.org/10.1371/journal.pone.0293503
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0293503

المؤلفون: Falzarano, Maria Sofia, Mietto, Martina, Fortunato, Fernanda, Farnè, Marianna, Martini, Fernanda, Ala, Pierpaolo, Selvatici, Rita, Muntoni, Francesco, Ferlini, Alessandra

المصدر: Scientific Reports , 13 , Article 15942. (2023)

مصطلحات موضوعية: Humans, RNA, Messenger, Dystrophin, Cytoplasm, Muscle, Skeletal, Biopsy, In Situ Hybridization

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10178292/1/s41598-023-43134-6.pdf; https://discovery.ucl.ac.uk/id/eprint/10178292/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10178292/1/s41598-023-43134-6.pdf
https://discovery.ucl.ac.uk/id/eprint/10178292/

المؤلفون: Farnè, Marianna, Balla, Cristina, Margutti, Alice, Selvatici, Rita, De Raffele, Martina, Di Domenico, Assunta, Imbrici, Paola, De Maria, Elia, Biffi, Mauro, Bertini, Matteo, Rapezzi, Claudio, Ferlini, Alessandra, Gualandi, Francesca

المساهمون: Farnè, Marianna, Balla, Cristina, Margutti, Alice, Selvatici, Rita, De Raffele, Martina, Di Domenico, Assunta, Imbrici, Paola, De Maria, Elia, Biffi, Mauro, Bertini, Matteo, Rapezzi, Claudio, Ferlini, Alessandra, Gualandi, Francesca

مصطلحات موضوعية: Brugada syndrome, overlapping phenotype, sarcomeric gene, MYBPC3, MYH7, hypertrophic cardiomyopathy

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000702388000001; volume:11; issue:3; firstpage:139; lastpage:147; numberofpages:9; journal:CARDIOGENETICS; https://hdl.handle.net/11586/430751

الاتاحة: https://hdl.handle.net/11586/430751
https://doi.org/10.3390/cardiogenetics11030016

المؤلفون: Farnè, Marianna, Bernardini, Laura, Capalbo, Anna, Cavarretta, Giusy, Torres, Barbara, Sanchini, Mariabeatrice, Fini, Sergio, Ferlini, Alessandra, Bigoni, Stefania

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 2, page 692-707 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62536
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62536
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62536

المؤلفون: Fortunato, Fernanda, Farnè, Marianna, Ferlini, Alessandra

المصدر: Neuromuscular Disorders ; volume 31, issue 10, page 1013-1020 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2021.08.004
https://api.elsevier.com/content/article/PII:S0960896621006088?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896621006088?httpAccept=text/plain

المؤلفون: Trevisan, Filippo, Bertini, Matteo, Balla, Cristina, Pestelli, Gabriele, Luisi, Andrea, Smarrazzo, Vittorio, Farnè, Marianna, Ferlini, Alessandra, Gualandi, Francesca, Mele, Donato

المصدر: Journal of the American College of Cardiology ; volume 77, issue 22, page 2865-2867 ; ISSN 0735-1097

الاتاحة: http://dx.doi.org/10.1016/j.jacc.2021.03.334
https://api.elsevier.com/content/article/PII:S0735109721012328?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0735109721012328?httpAccept=text/plain

المؤلفون: Tonelli, Laura, Balla, Cristina, Farnè, Marianna, Margutti, Alice, Maniscalchi, Eugenia Tiziana, De Feo, Gaetano, Di Domenico, Assunta, De Raffele, Martina, Percesepe, Antonio, Uliana, Vera, Barili, Valeria, Serra, Walter, Sassone, Biagio, Virzì, Santo, De Maria, Elia, Parmeggiani, Giulia, Assenza, Gabriele Egidy, Biagini, Elena, Parisi, Vanda, Biffi, Mauro, Carinci, Valeria, Perugini, Enrica, Imbrici, Paola, Ferlini, Alessandra, Bertini, Matteo, Selvatici, Rita, Gualandi, Francesca

المساهمون: Tonelli, Laura, Balla, Cristina, Farnè, Marianna, Margutti, Alice, Maniscalchi, Eugenia Tiziana, De Feo, Gaetano, Di Domenico, Assunta, De Raffele, Martina, Percesepe, Antonio, Uliana, Vera, Barili, Valeria, Serra, Walter, Sassone, Biagio, Virzì, Santo, De Maria, Elia, Parmeggiani, Giulia, Assenza, Gabriele Egidy, Biagini, Elena, Parisi, Vanda, Biffi, Mauro, Carinci, Valeria, Perugini, Enrica, Imbrici, Paola, Ferlini, Alessandra, Bertini, Matteo, Selvatici, Rita, Gualandi, Francesca

مصطلحات موضوعية: Brugada syndrome, SCN5A mutation, Shanghai Score System

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/37942788; info:eu-repo/semantics/altIdentifier/wos/WOS:001102568100002; volume:24; issue:12; firstpage:864; lastpage:870; numberofpages:7; journal:JOURNAL OF CARDIOVASCULAR MEDICINE; https://hdl.handle.net/11392/2532195; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85176443436

الاتاحة: https://hdl.handle.net/11392/2532195
https://doi.org/10.2459/JCM.0000000000001560

المؤلفون: Farnè, Marianna, Fortunato, Fernanda, Neri, Marcella, Farne, Matteo, Balla, Cristina, Albamonte, Emilio, Barp, Andrea, Armaroli, Annarita, Perugini, Enrica, Carinci, Valeria, Facchini, Marco, Chiarini, Luca, Sansone, Valeria A, Straudi, Sofia, Tugnoli, Valeria, Sette, Elisabetta, Sensi, Mariachiara, Bertini, Matteo, Evangelista, Teresinha, Ferlini, Alessandra, Gualandi, Francesca

المساهمون: Farnè, Marianna, Fortunato, Fernanda, Neri, Marcella, Farne, Matteo, Balla, Cristina, Albamonte, Emilio, Barp, Andrea, Armaroli, Annarita, Perugini, Enrica, Carinci, Valeria, Facchini, Marco, Chiarini, Luca, Sansone, Valeria A, Straudi, Sofia, Tugnoli, Valeria, Sette, Elisabetta, Sensi, Mariachiara, Bertini, Matteo, Evangelista, Teresinha, Ferlini, Alessandra, Gualandi, Francesca

مصطلحات موضوعية: Genetic counselling, Hereditary cardiac disease, Hereditary neuromuscular disorder, Telegenetic, Telemedicine

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36948289; info:eu-repo/semantics/altIdentifier/wos/WOS:000973164100001; volume:66; issue:6 (June); firstpage:1; lastpage:7; numberofpages:7; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11585/921093; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85151455443

الاتاحة: https://hdl.handle.net/11585/921093
https://doi.org/10.1016/j.ejmg.2023.104749

المؤلفون: Farnè, Marianna, Tedesco, Giovanna M, Bedetti, Chiara, Mencarelli, Amedea, Rogaia, Daniela, Colavito, Davide, Di Cara, Giuseppe, Stangoni, Gabriela, Troiani, Stefania, Ferlini, Alessandra, Prontera, Paolo

المساهمون: Farnè, Marianna, Tedesco, Giovanna M, Bedetti, Chiara, Mencarelli, Amedea, Rogaia, Daniela, Colavito, Davide, Di Cara, Giuseppe, Stangoni, Gabriela, Troiani, Stefania, Ferlini, Alessandra, Prontera, Paolo

مصطلحات موضوعية: MBOAT7, cerebellar atrophy, consanguinity, hydrogen-magnetic resonance spectroscopy, intellectual disability, review

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32744787; info:eu-repo/semantics/altIdentifier/wos/WOS:000554673500001; volume:182; issue:10; firstpage:2377; lastpage:2383; numberofpages:7; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11392/2532190; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088836873

الاتاحة: https://hdl.handle.net/11392/2532190
https://doi.org/10.1002/ajmg.a.61773

المؤلفون: Farnè, Marianna, Bernardini, Laura, Capalbo, Anna, Cavarretta, Giusy, Torres, Barbara, Sanchini, Mariabeatrice, Fini, Sergio, Ferlini, Alessandra, Bigoni, Stefania

المصدر: American Journal of Medical Genetics. Part A; Feb2022, Vol. 188 Issue 2, p692-707, 16p

المؤلفون: Balla, Cristina, Conte, Elena, Selvatici, Rita, Marsano, Renè Massimiliano, Gerbino, Andrea, Farnè, Marianna, Blunck, Rikard, Vitali, Francesco, Armaroli, Annarita, Brieda, Alessandro, Liantonio, Antonella, De Luca, Annamaria, Ferlini, Alessandra, Rapezzi, Claudio, Bertini, Matteo, Gualandi, Francesca, Imbrici, Paola

المصدر: International Journal of Molecular Sciences; Jun2021, Vol. 22 Issue 12, p6513, 1p

مصطلحات موضوعية: BRUGADA syndrome, SODIUM channels, VENTRICULAR arrhythmia, CARDIAC arrest, PHENOTYPES, PATIENT-family relations

المؤلفون: Colucci, Fabiana^1,2 (AUTHOR) fabiana.colucci@unife.it, Dardis, Andrea³ (AUTHOR), Pavan, Eleonora³ (AUTHOR), Scarpa, Maurizio³ (AUTHOR), Gozzi, Andrea^1,4 (AUTHOR), Antenucci, Pietro^1,4 (AUTHOR), Farnè, Marianna⁵ (AUTHOR), Neri, Marcella⁵ (AUTHOR), Ferlini, Alessandra⁵ (AUTHOR), Tugnoli, Valeria⁴ (AUTHOR), Sechi, Annalisa³ (AUTHOR), Sensi, Mariachiara⁴ (AUTHOR)

المصدر: Movement Disorders Clinical Practice. Nov2024, p1. 5p. 7 Illustrations.

مصطلحات موضوعية: *GAUCHER'S disease, *NUCLEOTIDE sequencing, *MOVEMENT disorders, *SOMATOSENSORY evoked potentials, *MEDICAL sciences, *MYOCLONUS