NERI, Marcella
NERI, Marcella
Dipartimento di Scienze mediche
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene
file con accesso da definire2017 Fortunato, Fernanda; Neri, Marcella; Geroldi, Alessandro; Bellone, Emilia; De Grandis, Domenico; Ferlini, Alessandra; Gualandi, Francesca
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia
file con accesso da definire2006 LO GIUDICE, M; Neri, Marcella; Falco, M; Sturnio, M; Calzolari, E; DI BENEDETTO, D; Fichera, M.
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
2008 Bovolenta, Matteo; Neri, Marcella; Fini, Sergio; Fabris, Marina; Trabanelli, Cecilia; Venturoli, A; Martoni, Elena; Bassi, Elena; Spitali, Pietro; Brioschi, Simona; Falzarano, Maria Sofia; Rimessi, Paola; Ciccone, R; Ashton, E; Mccauley, J; Yau, S; Abbs, S; Muntoni, F; Merlini, Luciano; Gualandi, Francesca; Ferlini, Alessandra
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions
file con accesso da definire2017 Imbrici, Paola; Altamura, Concetta; Gualandi, Francesca; Mangiatordi, Giuseppe Felice; Neri, Marcella; De Maria, Giovanni; Ferlini, Alessandra; Padovani, Alessandro; D'Adamo, Maria Cristina; Nicolotti, Orazio; Pessia, Mauro; Conte, Diana; Filosto, Massimiliano; Desaphy, Jean-Francois
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation
file con accesso da definire2013 Neri, Marcella; Selvatici, Rita; Scotton, Chiara; Trabanelli, Cecilia; Armaroli, Annarita; De Grandis, D.; Levy, N.; Gualandi, Francesca; Ferlini, Alessandra
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients
2023 Colucci, Fabiana; Neri, Marcella; Fortunato, Fernanda; Ferlini, Alessandra; Carrozzo, Rosalba; Torraco, Alessandra; Lamantea, Eleonora; Legati, Andrea; Tecilla, Ginevra; Pugliatti, Maura; Sensi, Mariachiara
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains
2019 Di Rienzo, M.; Antonioli, MARCO LUIGI; Fusco, C.; Liu, Y.; Mari, M.; Orhon, I.; Refolo, G.; Germani, F.; Corazzari, Michela; Romagnoli, Alessandro; Ciccosanti, F.; Mandriani, B.; Pellico, M. T.; De La Torre, R.; Ding, H.; Dentice, M.; Neri, M.; Ferlini, A.; Reggiori, F.; Kulesz-Martin, M.; Piacentini, M.; Merla, G.; Fimia, G. M.
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?
2022 Colucci, Fabiana; Di Bella, Daniela; Pisciotta, Chiara; Sarto, Elisa; Gualandi, Francesca; Neri, Marcella; Ferlini, Alessandra; Contaldi, Elena; Pugliatti, Maura; Pareyson, Davide; Sensi, Mariachiara
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
2018 Brancati, F.; Camerota, L.; Colao, E.; Vega-Warner, V.; Zhao, X.; Zhang, R.; Bottillo, I.; Castori, M.; Caglioti, A.; Sangiuolo, F.; Novelli, G.; Perrotti, N.; Otto, E. A.; Taruscio, D.; Salvatore, M.; De Stefano, M. C.; Censi, F.; Floridia, G.; Brancati, F.; Daina, E.; Iatropoulos, P.; Ferlini, A.; Roccatello, D.; Neri, M.; Menegatti, E.; Bembi, B.
Biomarkers in rare neuromuscular diseases.
file con accesso da definire2014 Scotton, Chiara; Passarelli, Chiara; Neri, Marcella; Ferlini, Alessandra
Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation
file con accesso da definire2010 Vattemi, G.; Gualandi, Francesca; Oosterhof, A.; Marini, M.; Tonin, P.; Rimessi, Paola; Neri, Marcella; Guglielmi, V.; Russignan, A.; Poli, C.; van Kuppevelt, T. H.; Ferlini, Alessandra; Tomelleri, G.
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence
file con accesso da definire2009 Vattemi, G; Tonin, P; Neri, Marcella; Marini, M; Gualandi, Francesca; Guglielmi, V; Ferlini, Alessandra; Tomelleri, G.
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse
2009 Rimessi, Paola; Sabatelli, Patrizia; Fabris, Marina; Braghetta, P; Bassi, Elena; Spitali, Pietro; Vattemi, G; Tomelleri, G; Mari, L; Perrone, Daniela; Medici, Alessandro; Neri, Marcella; Bovolenta, Matteo; Martoni, Elena; Maraldi, N; Gualandi, Francesca; Merlini, Luciano; Balestri, M; Tondelli, L; Sparnacci, K; Bonaldo, P; Caputo, Antonella; Laus, M; Ferlini, Alessandra
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
2023 Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A.; Chandler, Kate E.; Orr, David; Moss, Celia; Haider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D.; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; Varshney, Gaurav K.; Banka, Siddharth; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Caulfield, M. J.; Chan, G. C.; Giess, A.; Griffin, J. N.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O‘donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; ’t Hoen, Peter A. C.; Vissers, Lisenka E. L. M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; Natera de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Rodriguez Cruz, Pedro M.; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
file con accesso da definire2011 Vattemi, G; Neri, Marcella; Piffer, S; Vicart, P; Gualandi, Francesca; Marini, M; Guglielmi, V; Filosto, M; Tonin, P; Ferlini, Alessandra; Tomelleri, G.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
file con accesso da definire2017 Harris, Elizabeth; Burki, Umar; Marini-Bettolo, Chiara; Neri, Marcella; Scotton, Chiara; Hudson, Judith; Bertoli, Marta; Evangelista, Teresinha; Vroling, Bas; Polvikoski, Tuomo; Roberts, Mark; Töpf, Ana; Bushby, Kate; Mcarthur, Daniel; Lochmüller, Hanns; Ferlini, Alessandra; Straub, Volker; Barresi, Rita
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
file con accesso da definire2010 Ferlini, Alessandra; Bovolenta, Matteo; Neri, M.; Gualandi, Francesca; Balboni, A.; Yuryev, A.; Salvi, F.; Gemmati, Donato; Liboni, Alberto; Zamboni, Paolo
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy
2016 Scotton, Chiara; Bovolenta, Matteo; Schwartz, Elena; Falzarano, Maria Sofia; Martoni, Elena; Passarelli, Chiara; Armaroli, Annarita; AHMED MOHAMMED OSMAN, Hana; Rodolico, Carmelo; Messina, Sonia; Pegoraro, Elena; D'Amico, Adele; Bertini, Enrico; Gualandi, Francesca; Neri, Marcella; Selvatici, Rita; Boffi, Patrizia; Maioli, Maria Antonietta; Lochmüller, Hanns; Straub, Volker; Bushby, Katherine; Castrignanò, Tiziana; Pesole, Graziano; Sabatelli, Patrizia; Merlini, Luciano; Braghetta, Paola; Bonaldo, Paolo; Bernardi, Paolo; Foley, Reghan; Cirak, Sebahattin; Zaharieva, Irina; Muntoni, Francesco; Capitanio, Daniele; Gelfi, Cecilia; Kotelnikova, Ekaterina; Yuryev, Anton; Lebowitz, Michael; Zhang, Xiping; Hodge, Brian A.; Esser, Karyn A.; Ferlini, Alessandra
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
file con accesso da definire2023 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
DMD gene molecular genetic characterization in Eastern Europe and non European countries
2019 Selvatici, R; Trabanelli, C; Buldrini, B; Fini, S; Gualandi, F; Rimessi, P ); Neri, M; Fortunato, F; Potulska, A; Emandi, A; Lehman, I; Herczegfalvi, A; Guergueltcheva, V; Kyriakides, T; Sifi, Y; Molnar, M; Burnyte, B; Shatillo, A; Vlodavets, D; Ferlini, A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene | 2017 | Fortunato, Fernanda; Neri, Marcella; Geroldi, Alessandro; Bellone, Emilia; De Grandis, Domenico; ...Ferlini, Alessandra; Gualandi, Francesca | file con accesso da definire |
| A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia | 2006 | LO GIUDICE, M; Neri, Marcella; Falco, M; Sturnio, M; Calzolari, E; DI BENEDETTO, D; Fichera, M. | file con accesso da definire |
| A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies | 2008 | Bovolenta, Matteo; Neri, Marcella; Fini, Sergio; Fabris, Marina; Trabanelli, Cecilia; Venturoli, ...A; Martoni, Elena; Bassi, Elena; Spitali, Pietro; Brioschi, Simona; Falzarano, Maria Sofia; Rimessi, Paola; Ciccone, R; Ashton, E; Mccauley, J; Yau, S; Abbs, S; Muntoni, F; Merlini, Luciano; Gualandi, Francesca; Ferlini, Alessandra | |
| A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions | 2017 | Imbrici, Paola; Altamura, Concetta; Gualandi, Francesca; Mangiatordi, Giuseppe Felice; Neri, Marc...ella; De Maria, Giovanni; Ferlini, Alessandra; Padovani, Alessandro; D'Adamo, Maria Cristina; Nicolotti, Orazio; Pessia, Mauro; Conte, Diana; Filosto, Massimiliano; Desaphy, Jean-Francois | file con accesso da definire |
| A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation | 2013 | Neri, Marcella; Selvatici, Rita; Scotton, Chiara; Trabanelli, Cecilia; Armaroli, Annarita; De Gra...ndis, D.; Levy, N.; Gualandi, Francesca; Ferlini, Alessandra | file con accesso da definire |
| AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients | 2023 | Colucci, Fabiana; Neri, Marcella; Fortunato, Fernanda; Ferlini, Alessandra; Carrozzo, Rosalba; To...rraco, Alessandra; Lamantea, Eleonora; Legati, Andrea; Tecilla, Ginevra; Pugliatti, Maura; Sensi, Mariachiara | |
| Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains | 2019 | Di Rienzo, M.; Antonioli, MARCO LUIGI; Fusco, C.; Liu, Y.; Mari, M.; Orhon, I.; Refolo, G.; Germa...ni, F.; Corazzari, Michela; Romagnoli, Alessandro; Ciccosanti, F.; Mandriani, B.; Pellico, M. T.; De La Torre, R.; Ding, H.; Dentice, M.; Neri, M.; Ferlini, A.; Reggiori, F.; Kulesz-Martin, M.; Piacentini, M.; Merla, G.; Fimia, G. M. | |
| Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual? | 2022 | Colucci, Fabiana; Di Bella, Daniela; Pisciotta, Chiara; Sarto, Elisa; Gualandi, Francesca; Neri, ...Marcella; Ferlini, Alessandra; Contaldi, Elena; Pugliatti, Maura; Pareyson, Davide; Sensi, Mariachiara | |
| Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome | 2018 | Brancati, F.; Camerota, L.; Colao, E.; Vega-Warner, V.; Zhao, X.; Zhang, R.; Bottillo, I.; Castor...i, M.; Caglioti, A.; Sangiuolo, F.; Novelli, G.; Perrotti, N.; Otto, E. A.; Taruscio, D.; Salvatore, M.; De Stefano, M. C.; Censi, F.; Floridia, G.; Brancati, F.; Daina, E.; Iatropoulos, P.; Ferlini, A.; Roccatello, D.; Neri, M.; Menegatti, E.; Bembi, B. | |
| Biomarkers in rare neuromuscular diseases. | 2014 | Scotton, Chiara; Passarelli, Chiara; Neri, Marcella; Ferlini, Alessandra | file con accesso da definire |
| Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation | 2010 | Vattemi, G.; Gualandi, Francesca; Oosterhof, A.; Marini, M.; Tonin, P.; Rimessi, Paola; Neri, Mar...cella; Guglielmi, V.; Russignan, A.; Poli, C.; van Kuppevelt, T. H.; Ferlini, Alessandra; Tomelleri, G. | file con accesso da definire |
| Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence | 2009 | Vattemi, G; Tonin, P; Neri, Marcella; Marini, M; Gualandi, Francesca; Guglielmi, V; Ferlini, Ales...sandra; Tomelleri, G. | file con accesso da definire |
| Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse | 2009 | Rimessi, Paola; Sabatelli, Patrizia; Fabris, Marina; Braghetta, P; Bassi, Elena; Spitali, Pietro;... Vattemi, G; Tomelleri, G; Mari, L; Perrone, Daniela; Medici, Alessandro; Neri, Marcella; Bovolenta, Matteo; Martoni, Elena; Maraldi, N; Gualandi, Francesca; Merlini, Luciano; Balestri, M; Tondelli, L; Sparnacci, K; Bonaldo, P; Caputo, Antonella; Laus, M; Ferlini, Alessandra | |
| Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 | 2023 | Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A.; Chandler, Kate E.; Orr, David; Moss, Celia; H...aider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D.; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; Varshney, Gaurav K.; Banka, Siddharth; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Caulfield, M. J.; Chan, G. C.; Giess, A.; Griffin, J. N.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O‘donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; ’t Hoen, Peter A. C.; Vissers, Lisenka E. L. M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; Natera de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Rodriguez Cruz, Pedro M.; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas | |
| Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. | 2011 | Vattemi, G; Neri, Marcella; Piffer, S; Vicart, P; Gualandi, Francesca; Marini, M; Guglielmi, V; F...ilosto, M; Tonin, P; Ferlini, Alessandra; Tomelleri, G. | file con accesso da definire |
| Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains | 2017 | Harris, Elizabeth; Burki, Umar; Marini-Bettolo, Chiara; Neri, Marcella; Scotton, Chiara; Hudson, ...Judith; Bertoli, Marta; Evangelista, Teresinha; Vroling, Bas; Polvikoski, Tuomo; Roberts, Mark; Töpf, Ana; Bushby, Kate; Mcarthur, Daniel; Lochmüller, Hanns; Ferlini, Alessandra; Straub, Volker; Barresi, Rita | file con accesso da definire |
| Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis | 2010 | Ferlini, Alessandra; Bovolenta, Matteo; Neri, M.; Gualandi, Francesca; Balboni, A.; Yuryev, A.; S...alvi, F.; Gemmati, Donato; Liboni, Alberto; Zamboni, Paolo | file con accesso da definire |
| Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy | 2016 | Scotton, Chiara; Bovolenta, Matteo; Schwartz, Elena; Falzarano, Maria Sofia; Martoni, Elena; Pass...arelli, Chiara; Armaroli, Annarita; AHMED MOHAMMED OSMAN, Hana; Rodolico, Carmelo; Messina, Sonia; Pegoraro, Elena; D'Amico, Adele; Bertini, Enrico; Gualandi, Francesca; Neri, Marcella; Selvatici, Rita; Boffi, Patrizia; Maioli, Maria Antonietta; Lochmüller, Hanns; Straub, Volker; Bushby, Katherine; Castrignanò, Tiziana; Pesole, Graziano; Sabatelli, Patrizia; Merlini, Luciano; Braghetta, Paola; Bonaldo, Paolo; Bernardi, Paolo; Foley, Reghan; Cirak, Sebahattin; Zaharieva, Irina; Muntoni, Francesco; Capitanio, Daniele; Gelfi, Cecilia; Kotelnikova, Ekaterina; Yuryev, Anton; Lebowitz, Michael; Zhang, Xiping; Hodge, Brian A.; Esser, Karyn A.; Ferlini, Alessandra | |
| Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience | 2023 | Fortunato, Fernanda; Bianchi, Francesca; Ricci, Giulia; Torri, Francesca; Gualandi, Francesca; Ne...ri, 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 | file con accesso da definire |
| DMD gene molecular genetic characterization in Eastern Europe and non European countries | 2019 | Selvatici, R; Trabanelli, C; Buldrini, B; Fini, S; Gualandi, F; Rimessi, P ); Neri, M; Fortunato,... F; Potulska, A; Emandi, A; Lehman, I; Herczegfalvi, A; Guergueltcheva, V; Kyriakides, T; Sifi, Y; Molnar, M; Burnyte, B; Shatillo, A; Vlodavets, D; Ferlini, A |