Congenital nystagmus in two infants born from mothers exposed to methadone during pregnancy

Por Tinelli, Francesca, Gamucci, Alessandra, Battini, Roberta, Cioni, Giovanni
Publicado em 2013

Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency

Por Battini, Roberta, Alessandrì, M. Grazia, Casalini, Claudia, Casarano, Manuela, Tosetti, Michela, Cioni, Giovanni
Publicado no Orphanet J Rare Dis (2017)

Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum

Por Alessandrì, Maria G., Casarano, Manuela, Pezzini, Ilaria, Doccini, Stefano, Nesti, Claudia, Cioni, Giovanni, Battini, Roberta
Publicado no JIMD Rep (2014)

MECP2 duplication phenotype in symptomatic females: report of three further cases

Por Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto
Publicado em 2014

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description

Por Battini, Roberta, Bertelloni, Silvano, Astrea, Guja, Casarano, Manuela, Travaglini, Lorena, Baroncelli, Giampiero, Pasquariello, Rosa, Bertini, Enrico, Cioni, Giovanni
Publicado no BMC Med Genet (2015)

Learning disabilities in neuromuscular disorders: a springboard for adult life

Por Astrea, Guja, Battini, Roberta, Lenzi, Sara, Frosini, Silvia, Bonetti, Silvia, Moretti, Elena, Perazza, Silvia, Santorelli, Filippo M., Pecini, Chiara
Publicado no Acta Myol (2016)

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

Por Chilosi Annamaria, Casarano Manuela, Comparini Alessandro, Battaglia Francesca, Mancardi Margherita, Schiaffino Cristina, Tosetti Michela, Leuzzi Vincenzo, Battini Roberta, Cioni Giovanni
Publicado em 2012-06-01

Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study

Por MAGLIANO, LORENZA, D'ANGELO, MARIA GRAZIA, VITA, GIUSEPPE, PANE, MARIKA, D'AMICO, ADELE, BALOTTIN, UMBERTO, ANGELINI, CORRADO, BATTINI, ROBERTA, POLITANO, LUISA
Publicado no Acta Myol (2014)

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

Por Chilosi, Annamaria, Casarano, Manuela, Comparini, Alessandro, Battaglia, Francesca Maria, Mancardi, Margherita Maria, Schiaffino, Cristina, Tosetti, Michela, Leuzzi, Vincenzo, Battini, Roberta, Cioni, Giovanni
Publicado em 2012

Novel dynein DYNC1H1 neck and motor domain mutations link distal SMA and abnormal cortical development

Por Fiorillo, Chiara, Moro, Francesca, Yi, Julie, Weil, Sarah, Brisca, Giacomo, Astrea, Guja, Severino, Mariasavina, Romano, Alessandro, Battini, Roberta, Rossi, Andrea, Minetti, Carlo, Bruno, Claudio, Santorelli, Filippo M., Vallee, Richard
Publicado em 2014

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

Por Santorelli, Filippo Maria, Garavaglia, Barbara, Cardona, Francesco, Nardocci, Nardo, Bernardina, Bernardo Dalla, Sartori, Stefano, Suppiej, Agnese, Bertini, Enrico, Claps, Dianela, Battini, Roberta, Biancheri, Roberta, Filocamo, Mirella, Pezzini, Francesco, Simonati, Alessandro
Publicado em 2013

RFT1 Deficiency in Three Novel CDG Patients

Por Vleugels, Wendy, Haeuptle, Micha A., Ng, Bobby G., Michalski, Jean-Claude, Battini, Roberta, Dionisi-Vici, Carlo, Ludman, Mark D., Jaeken, Jaak, Foulquier, Franc-ois, Freeze, Hudson H., Matthijs, Gert, Hennet, Thierry
Publicado em 2009

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Por Savarese, Marco, Musumeci, Olimpia, Giugliano, Teresa, Rubegni, Anna, Fiorillo, Chiara, Fattori, Fabiana, Torella, Annalaura, Battini, Roberta, Rodolico, Carmelo, Pugliese, Aniello, Piluso, Giulio, Maggi, Lorenzo, D'Amico, Adele, Bruno, Claudio, Bertini, Enrico, Santorelli, Filippo Maria, Mora, Marina, Toscano, Antonio, Minetti, Carlo, Nigro, Vincenzo
Publicado no Neuromuscul Disord (2016)

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy

Por Mercuri, Eugenio, Coratti, Giorgia, Messina, Sonia, Ricotti, Valeria, Baranello, Giovanni, D’Amico, Adele, Pera, Maria Carmela, Albamonte, Emilio, Sivo, Serena, Mazzone, Elena Stacy, Arnoldi, Maria Teresa, Fanelli, Lavinia, De Sanctis, Roberto, Romeo, Domenico M, Vita, Gian Luca, Battini, Roberta, Bertini, Enrico, Muntoni, Francesco, Pane, Marika
Publicado no PLoS One (2016)

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Por Schessl, Joachim, Zou, Yaqun, McGrath, Meagan J., Cowling, Belinda S., Maiti, Baijayanta, Chin, Steven S., Sewry, Caroline, Battini, Roberta, Hu, Ying, Cottle, Denny L., Rosenblatt, Michael, Spruce, Lynn, Ganguly, Arupa, Kirschner, Janbernd, Judkins, Alexander R., Golden, Jeffrey A., Goebel, Hans-Hilmar, Muntoni, Francesco, Flanigan, Kevin M., Mitchell, Christina A., Bönnemann, Carsten G.
Publicado em 2008

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

Por Schessl, Joachim, Taratuto, Ana L., Sewry, Caroline, Battini, Roberta, Chin, Steven S., Maiti, Baijayanta, Dubrovsky, Alberto L., Erro, Marcela G., Espada, Graciela, Robertella, Monica, Saccoliti, Maria, Olmos, Patricia, Bridges, Leslie R., Standring, Peter, Hu, Ying, Zou, Yaqun, Swoboda, Kathryn J., Scavina, Mena, Goebel, Hans-Hilmar, Mitchell, Christina A., Flanigan, Kevin M., Muntoni, Francesco, Bönnemann, Carsten G.
Publicado em 2009

Burden, professional support, and social network in families of children and young adults with muscular dystrophies

Por Magliano, Lorenza, Patalano, Melania, Sagliocchi, Alessandra, Scutifero, Marianna, Zaccaro, Antonella, D'angelo, Maria Grazia, Civati, Federica, Brighina, Erika, Vita, Giuseppe, Vita, Gian Luca, Messina, Sonia, Sframeli, Maria, Pane, Marika, Lombardo, Maria Elena, Scalise, Roberta, D'amico, Adele, Colia, Giulia, Catteruccia, Michela, Balottin, Umberto, Berardinelli, Angela, Chiara Motta, Maria, Angelini, Corrado, Gaiani, Alessandra, Semplicini, Claudio, Bello, Luca, Battini, Roberta, Astrea, Guja, Politano, Luisa
Publicado no Muscle Nerve (2015)

“I have got something positive out of this situation”: psychological benefits of caregiving in relatives of young people with muscular dystrophy

Por Magliano, Lorenza, Patalano, Melania, Sagliocchi, Alessandra, Scutifero, Marianna, Zaccaro, Antonella, D’Angelo, Maria Grazia, Civati, Federica, Brighina, Erika, Vita, Giuseppe, Vita, Gian Luca, Messina, Sonia, Sframeli, Maria, Pane, Marika, Lombardo, Maria Elena, Scalise, Roberta, D’Amico, Adele, Colia, Giulia, Catteruccia, Michela, Balottin, Umberto, Berardinelli, Angela, Motta, Maria Chiara, Angelini, Corrado, Gaiani, Alessandra, Semplicini, Claudio, Bello, Luca, Battini, Roberta, Astrea, Guja, Ricci, Giulia, Politano, Luisa
Publicado em 2013

Prevalence of congenital muscular dystrophy in Italy: A population study

Por Graziano, Alessandra, Bianco, Flaviana, D'Amico, Adele, Moroni, Isabella, Messina, Sonia, Bruno, Claudio, Pegoraro, Elena, Mora, Marina, Astrea, Guja, Magri, Francesca, Comi, Giacomo P., Berardinelli, Angela, Moggio, Maurizio, Morandi, Lucia, Pini, Antonella, Petillo, Roberta, Tasca, Giorgio, Monforte, Mauro, Minetti, Carlo, Mongini, Tiziana, Ricci, Enzo, Gorni, Ksenija, Battini, Roberta, Villanova, Marcello, Politano, Luisa, Gualandi, Francesca, Ferlini, Alessandra, Muntoni, Francesco, Santorelli, Filippo Maria, Bertini, Enrico, Pane, Marika, Mercuri, Eugenio
Publicado no Neurology (2015)

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

Por Caciotti, Anna, Garman, Scott C, Rivera-Colón, Yadilette, Procopio, Elena, Catarzi, Serena, Ferri, Lorenzo, Guido, Carmen, Martelli, Paola, Parini, Rossella, Antuzzi, Daniela, Battini, Roberta, Sibilio, Michela, Simonati, Alessandro, Fontana, Elena, Salviati, Alessandro, Akinci, Gulcin, Cereda, Cristina, Dionisi-Vici, Carlo, Deodato, Francesca, d’Amico, Adele, d’Azzo, Alessandra, Bertini, Enrico, Filocamo, Mirella, Scarpa, Maurizio, di Rocco, Maja, Tifft, Cynthia J, Ciani, Federica, Gasperini, Serena, Pasquini, Elisabetta, Guerrini, Renzo, Donati, Maria Alice, Morrone, Amelia
Publicado em 2011