GUALANDI, Francesca
GUALANDI, Francesca
Dipartimento di Scienze mediche
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes
file con accesso da definire2014 M., Pane; Es, Mazzone; Mp, Sormani; S., Messina; Gl, Vita; L., Fanelli; A., Berardinelli; Y., Torrente; A., D'Amico; V., Lanzillotta; E., Viggiano; P., D'Ambrosio; F., Cavallaro; S., Frosini; L., Bello; S., Bonfiglio; R., Scalise; R., De Sanctis; E., Rolle; F., Bianco; M., Van der Haawue; F., Magri; C., Palermo; F., Rossi; Ma, Donati; C., Alfonsi; M., Sacchini; Mt, Arnoldi; G., Baranello; T., Mongini; A., Pini; R., Battini; E., Pegoraro; Sc, Previtali; S., Napolitano; C., Bruno; L., Politano; Gp, Comi; E., Bertini; L., Morandi; Gualandi, Francesca; Ferlini, Alessandra; N., Goemans; E., Mercuri
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics
file con accesso da definire2017 DEL FRANCO, Annamaria; Gualandi, Francesca; Malagu', Michele; Ferlini, Alessandra; Xiao, Dang; Ferrari, Roberto; Bertini, Matteo
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 comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
2015 Ankala, Arunkanth; da Silva, Cristina; Gualandi, Francesca; Ferlini, Alessandra; Bean, Lora J. H; Collins, Christin; Tanner, Alice K; Hegde, Madhuri R.
A Family with γ-Thalassemia and High Hb A2 Levels
file con accesso da definire2016 Parmeggiani, Giulia; Gualandi, Francesca; Selvatici, Rita; Rimessi, Paola; Bigoni, Stefania; Masieri, Marina Taddei; Dolcini, Bernadetta; Venturoli, Anna; Cappabianca, Maria P.; Ferlini, Alessandra; Ravani, Anna
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 identified in an Italian family affected by episodic ataxia type 1
file con accesso da definire2008 Imbrici, P; Gualandi, Francesca; D'Adamo, Mc; Masieri, Mt; Cudia, P; De Grandis, D; Mannucci, R; Nicoletti, I; Tucker, Sj; Ferlini, Alessandra; Pessia, M.
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 novel mutation of BEST1 gene in Best disease
2021 Campa, C.; Parmeggiani, F.; Spena, R.; Ognibene, D.; Passerini, I.; Gualandi, F.
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
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
2019 Bolduc, V.; Reghan Foley, A.; Solomon-Degefa, H.; Sarathy, A.; Donkervoort, S.; Hu, Y.; Chen, G. S.; Sizov, K.; Nalls, M.; Zhou, H.; Aguti, S.; Cummings, B. B.; Lek, M.; Tukiainen, T.; Marshall, J. L.; Regev, O.; Marek-Yagel, D.; Sarkozy, A.; Butterfield, R. J.; Jou, C.; Jimenez-Mallebrera, C.; Li, Y.; Gartioux, C.; Mamchaoui, K.; Allamand, V.; Gualandi, F.; Ferlini, A.; Hanssen, E.; Wilton, S. D.; Lamande, S. R.; Macarthur, D. G.; Wagener, R.; Muntoni, F.; Bonnemann, C. G.
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies
file con accesso da definire2014 B., Ayoglu; A., Chaouch; H., Lochmüller; L., Politano; E., Bertini; Spitali, Pietro; M., Hiller; E., Niks; Gualandi, Francesca; F., Pontén; K., Bushby; A., Aartsma Rus; E., Schwartz; Y., Le Priol; V., Straub; M., Uhlén; S., Cirak; F., 't Hoen PA5; Muntoni, ; Ferlini, Alessandra; Jm, Schwenk; P., Nilsson; C., Al Khalili Szigyarto
An interconnected data infrastructure to support large-scale rare disease research
file con accesso da definire2024 F Johansson, Lennart; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; de Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Yavari Dizjikan, Farid; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; van de Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; Joeri van der Velde, K; Veal, Colin; van der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Sergi; A Swertz, Morris; J Brookes, Anthony; consortium: Olaf Riess, Solve-RD; B Haack, Tobias; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; M Schulze-Hentrich, Julia; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Kellner, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; C 't Hoen, Peter A; M Vissers, Lisenka E L; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; M de Voer, Richarda; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; J Brookes, Anthony; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Yavari Dizjikan, Farid; Shorter, Thomas; Töpf, Ana; Straub, Volker; Marini Bettolo, Chiara; Diaz Manera, Jordi; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Glynne Gut, Ivo; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; 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; Pourová Kremliková, Radka; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; M Sisodiya, Sanjay; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Katharina Sommer, Anna; Peters, Sophia; Oliveira, Carla; Garcia-Pelaez, Jose; Barbosa-Matos, Rita; São José, Celina; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; A Swertz, Morris; Johansson, Lennart; K van der Velde, Joeri; van der Vries, Gerben; B Neerincx, Pieter; Ruvolo, David; M Abbott, Kristin; S Kerstjens Frederikse, Wilhemina; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; Posada De la Paz, Manuel; Bermejo Sánchez, Eva; López Martín, Estrella; Martínez Delgado, Beatriz; Javier Alonso García de la Rosa, F; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Clementina Radio, Francesca; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Judit Molnar, Maria; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Franco Jarava, Clara; Batlle Masó, Laura; Marcé-Grau, Anna; Colobran, Roger; Nascimento Osorio, Andrés; Natera de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; F Chinnery, Patrick; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Nazlı Başak, Ayşe; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; E Santen, Gijs W; K Bijlsma, Emilia; V Hoffer, Mariette J; L Ruivenkamp, Claudia A; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabell; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy
2010 Rimessi, Paola; Fabris, Marina; Bovolenta, Matteo; Bassi, Elena; Falzarano, Maria Sofia; Gualandi, Francesca; Rapezzi, C; Coccolo, F; Perrone, Daniela; Medici, Alessandro; Ferlini, Alessandra
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy
2012 Gualandi, Francesca; Manzati, Elisa; Sabatelli, Patrizia; Passarelli, Chiara; Bovolenta, Matteo; Pellegrini, Camilla; Perrone, Daniela; Squarzoni, S; Pegoraro, E; Bonaldo, P; Ferlini, Alessandra
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation
file con accesso da definire2012 Pane, M; Lombardo, Me; Alfieri, P; D'Amico, A; Bianco, F; Vasco, G; Piccini, G; Mallardi, M; Romeo, Dm; Ricotti, V; Ferlini, Alessandra; Gualandi, Francesca; Vicari, S; Bertini, E; Berardinelli, A; Mercuri, E.
Attualità e nuove prospettive in tema di cardiogenetica
file con accesso da definire2018 Malagù, Michele; Zaraket, Fatima; Gualandi, Francesca; Ferlini, Alessandra; Brieda, Alessandro; Vitali, Francesco; Del Franco, Annamaria; Balla, Cristina; Fucili, Alessandro; Ferrari, Roberto; Bertini, Matteo
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008
file con accesso da definire2009 Berto, Anna; Pellati, Daniela; Castiglione, Alessandro; Busi, Micol; Trevisi, Patrizia; Gualandi, Francesca; Ferlini, Alessandra; Martini, Alessandro
Autosomal recessive Bethlem myopathy
file con accesso da definire2009 Gualandi, Francesca; Urciuolo, A; Martoni, Elena; Sabatelli, Patrizia; Squarzoni, S; Bovolenta, Matteo; Messina, S; Mercuri, E; Franchella, Andrea; Ferlini, Alessandra; Bonaldo, P; Merlini, Luciano
Autosomal recessive myosclerosis myopathy is a collagen VI disorder
file con accesso da definire2008 Merlini, Luciano; Martoni, Elena; Grumati, P; Sabatelli, Patrizia; Squarzoni, S; Urciuolo, A; Ferlini, Alessandra; Gualandi, Francesca; Bonaldo, P.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 6 minute walk test in Duchenne MD patients with different mutations: 12 month changes | 2014 | M., Pane; Es, Mazzone; Mp, Sormani; S., Messina; Gl, Vita; L., Fanelli; A., Berardinelli; Y., Tor... espandi | file con accesso da definire |
| A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics | 2017 | DEL FRANCO, Annamaria; Gualandi, Francesca; Malagu', Michele; Ferlini, Alessandra; Xiao, Dang; Fe... espandi | file con accesso da definire |
| 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; ... espandi | file con accesso da definire |
| A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield | 2015 | Ankala, Arunkanth; da Silva, Cristina; Gualandi, Francesca; Ferlini, Alessandra; Bean, Lora J. H;... espandi | |
| A Family with γ-Thalassemia and High Hb A2 Levels | 2016 | Parmeggiani, Giulia; Gualandi, Francesca; Selvatici, Rita; Rimessi, Paola; Bigoni, Stefania; Masi... espandi | 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, ... espandi | |
| A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 | 2008 | Imbrici, P; Gualandi, Francesca; D'Adamo, Mc; Masieri, Mt; Cudia, P; De Grandis, D; Mannucci, R; ... espandi | file con accesso da definire |
| 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... espandi | file con accesso da definire |
| A novel mutation of BEST1 gene in Best disease | 2021 | Campa, C.; Parmeggiani, F.; Spena, R.; Ognibene, D.; Passerini, I.; Gualandi, F. | |
| 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... espandi | file con accesso da definire |
| A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies | 2019 | Bolduc, V.; Reghan Foley, A.; Solomon-Degefa, H.; Sarathy, A.; Donkervoort, S.; Hu, Y.; Chen, G. ... espandi | |
| Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies | 2014 | B., Ayoglu; A., Chaouch; H., Lochmüller; L., Politano; E., Bertini; Spitali, Pietro; M., Hiller; ... espandi | file con accesso da definire |
| An interconnected data infrastructure to support large-scale rare disease research | 2024 | F Johansson, Lennart; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Col... espandi | file con accesso da definire |
| Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy | 2010 | Rimessi, Paola; Fabris, Marina; Bovolenta, Matteo; Bassi, Elena; Falzarano, Maria Sofia; Gualandi... espandi | |
| Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy | 2012 | Gualandi, Francesca; Manzati, Elisa; Sabatelli, Patrizia; Passarelli, Chiara; Bovolenta, Matteo; ... espandi | |
| Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation | 2012 | Pane, M; Lombardo, Me; Alfieri, P; D'Amico, A; Bianco, F; Vasco, G; Piccini, G; Mallardi, M; Rome... espandi | file con accesso da definire |
| Attualità e nuove prospettive in tema di cardiogenetica | 2018 | Malagù, Michele; Zaraket, Fatima; Gualandi, Francesca; Ferlini, Alessandra; Brieda, Alessandro; V... espandi | file con accesso da definire |
| Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 | 2009 | Berto, Anna; Pellati, Daniela; Castiglione, Alessandro; Busi, Micol; Trevisi, Patrizia; Gualandi,... espandi | file con accesso da definire |
| Autosomal recessive Bethlem myopathy | 2009 | Gualandi, Francesca; Urciuolo, A; Martoni, Elena; Sabatelli, Patrizia; Squarzoni, S; Bovolenta, M... espandi | file con accesso da definire |
| Autosomal recessive myosclerosis myopathy is a collagen VI disorder | 2008 | Merlini, Luciano; Martoni, Elena; Grumati, P; Sabatelli, Patrizia; Squarzoni, S; Urciuolo, A; Fer... espandi | file con accesso da definire |