Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy

por Catapano, Francesco, Zaharieva, Irina, Scoto, Mariacristina, Marrosu, Elena, Morgan, Jennifer, Muntoni, Francesco, Zhou, Haiyan
Publicado 2016

Association study in the 5q31-32 linkage region for schizophrenia using pooled DNA genotyping

por Zaharieva, Irina, Georgieva, Lyudmila, Nikolov, Ivan, Kirov, George, Owen, Michael J, O'Donovan, Michael C, Toncheva, Draga
Publicado 2008

Response of plasma microRNAs to nusinersen treatment in patients with SMA

por Zaharieva, Irina T., Scoto, Mariacristina, Aragon‐Gawinska, Karolina, Ridout, Deborah, Doreste, Bruno, Servais, Laurent, Muntoni, Francesco, Zhou, Haiyan
Publicado 2022

The altered expression of neurofilament in mouse models and patients with spinal muscular atrophy

por Spicer, Charlotte, Lu, Ching‐Hua, Catapano, Francesco, Scoto, Mariacristina, Zaharieva, Irina, Malaspina, Andrea, Morgan, Jennifer E., Greensmith, Linda, Muntoni, Francesco, Zhou, Haiyan
Publicado 2021

Investigating the Contribution of Common Genetic Variants to the Risk and Pathogenesis of ADHD

por Stergiakouli, Evangelia, Hamshere, Marian, Holmans, Peter, Langley, Kate, Zaharieva, Irina, Hawi, Ziarah, Kent, Lindsey, Gill, Michael, Williams, Nigel, Owen, Michael J., O'Donovan, Michael, Thapar, Anita
Publicado 2012

Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy

por Zaharieva, Irina T., Calissano, Mattia, Scoto, Mariacristina, Preston, Mark, Cirak, Sebahattin, Feng, Lucy, Collins, James, Kole, Ryszard, Guglieri, Michela, Straub, Volker, Bushby, Kate, Ferlini, Alessandra, Morgan, Jennifer E., Muntoni, Francesco
Publicado 2013

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

por Williams, Nigel M, Zaharieva, Irina, Martin, Andrew, Langley, Kate, Mantripragada, Kiran, Fossdal, Ragnheidur, Stefansson, Hreinn, Stefansson, Kari, Magnusson, Pall, Gudmundsson, Olafur O, Gustafsson, Omar, Holmans, Peter, Owen, Michael J, O'Donovan, Michael, Thapar, Anita
Publicado 2010

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

por Nasca, Alessia, Scotton, Chiara, Zaharieva, Irina, Neri, Marcella, Selvatici, Rita, Magnusson, Olafur Thor, Gal, Aniko, Weaver, David, Rossi, Rachele, Armaroli, Annarita, Pane, Marika, Phadke, Rahul, Sarkozy, Anna, Muntoni, Francesco, Hughes, Imelda, Cecconi, Antonella, Hajnóczky, György, Donati, Alice, Mercuri, Eugenio, Zeviani, Massimo, Ferlini, Alessandra, Ghezzi, Daniele
Publicado 2017

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

por Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M., Hoffman, Eric P., Koeks, Zaida, Eka Suchiman, H., Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, ‘t Hoen, Peter A. C., Niks, Erik H., Tuffery-Giraud, Sylvie, Lochmüller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke
Publicado 2020

GGPS1 ‐associated muscular dystrophy with and without hearing loss

por Kaiyrzhanov, Rauan, Perry, Luke, Rocca, Clarissa, Zaki, Maha S., Hosny, Heba, Araujo Martins Moreno, Cristiane, Phadke, Rahul, Zaharieva, Irina, Camelo Gontijo, Clara, Beetz, Christian, Pini, Veronica, Movahedinia, Mojtaba, Zanoteli, Edmar, DiTroia, Stephanie, Vuillaumier‐Barrot, Sandrine, Isapof, Arnaud, Mehrjardi, Mohammad Yahya Vahidi, Ghasemi, Nasrin, Sarkozy, Anna, Muntoni, Francesco, Whalen, Sandra, Vona, Barbara, Houlden, Henry, Maroofian, Reza
Publicado 2022

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

por Zaharieva, Irina T., Thor, Michael G., Oates, Emily C., van Karnebeek, Clara, Hendson, Glenda, Blom, Eveline, Witting, Nanna, Rasmussen, Magnhild, Gabbett, Michael T., Ravenscroft, Gianina, Sframeli, Maria, Suetterlin, Karen, Sarkozy, Anna, D’Argenzio, Luigi, Hartley, Louise, Matthews, Emma, Pitt, Matthew, Vissing, John, Ballegaard, Martin, Krarup, Christian, Slørdahl, Andreas, Halvorsen, Hanne, Ye, Xin Cynthia, Zhang, Lin-Hua, Løkken, Nicoline, Werlauff, Ulla, Abdelsayed, Mena, Davis, Mark R., Feng, Lucy, Phadke, Rahul, Sewry, Caroline A., Morgan, Jennifer E., Laing, Nigel G., Vallance, Hilary, Ruben, Peter, Hanna, Michael G., Lewis, Suzanne, Kamsteeg, Erik-Jan, Männikkö, Roope, Muntoni, Francesco
Publicado 2016

Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3

por Williams, Nigel M., Franke, Barbara, Mick, Eric, Anney, Richard J.L., Freitag, Christine M., Gill, Michael, Thapar, Anita, O'Donovan, Michael C., Owen, Michael J., Holmans, Peter, Kent, Lindsey, Middleton, Frank, Zhang-James, Yanli, Liu, Lu, Meyer, Jobst, Nguyen, Thuy Trang, Romanos, Jasmin, Romanos, Marcel, Seitz, Christiane, Renner, Tobias J., Walitza, Susanne, Warnke, Andreas, Palmason, Haukur, Buitelaar, Jan, Rommelse, Nanda, Vasquez, Alejandro Arias, Hawi, Ziarih, Langley, Kate, Sergeant, Joseph, Steinhausen, Hans-Christoph, Roeyers, Herbert, Biederman, Joseph, Zaharieva, Irina, Hakonarson, Hakon, Elia, Josephine, Lionel, Anath C., Crosbie, Jennifer, Marshall, Christian R., Schachar, Russell, Scherer, Stephen W., Todorov, Alexandre, Smalley, Susan L., Loo, Sandra, Nelson, Stanley, Shtir, Corina, Asherson, Philip, Reif, Andreas, Lesch, Klaus-Peter, Faraone, Stephen V.
Publicado 2012

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

por Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B., Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G., Taylor, J. Paul
Publicado 2022

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

por Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández‐Callejo, Marcos, Garcia‐Linares, Carles, Hernandez‐Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó‐Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps‐Puchadas, Jordi, Paramonov, Ida, Trotta, Jean‐Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros‐Facer, Virginie, Buske, Orion J., Cañada‐Pallarés, Andrés, Fernández, José M., Hansson, Mats G., Horvath, Rita, Jacobsen, Julius O.B., Kaliyaperumal, Rajaram, Lair‐Préterre, Séverine, Licata, Luana, Lopes, Pedro, López‐Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez‐Jurado, Luis A., Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N., Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter A. C., Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G., Lochmüller, Hanns, Beltran, Sergi
Publicado 2022