OpenURL Connection Search

Select item for more details and to access through your institution.

Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons.
Published in:
Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01223-5
By:
- Sansa, Alba;
- Hidalgo, Ivan;
- Miralles, Maria P.;
- de la Fuente, Sandra;
- Perez-Garcia, M. Jose;
- Munell, Francina;
- Soler, Rosa M.;
- Garcera, Ana
Publication type:
Article
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Published in:
2012
By:
- Juan-Mateu, Jonàs;
- Rodríguez, Maria José;
- Nascimento, Andrés;
- Jiménez-Mallebrera, Cecilia;
- González-Quereda, Lidia;
- Rivas, Eloy;
- Paradas, Carmen;
- Madruga, Marcos;
- Sánchez-Ayaso, Pedro;
- Jou, Cristina;
- González-Mera, Laura;
- Munell, Francina;
- Roig-Quilis, Manuel;
- Rabasa, Maria;
- Hernández-Lain, Aurelio;
- Díaz-Manera, Jorge;
- Gallardo, Eduard;
- Pascual, Jordi;
- Verdura, Edgard;
- Colomer, Jaume
Publication type:
journal article
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 82, doi. 10.1186/1750-1172-7-82
By:
- Juan-Mateu, Jonàs;
- Rodríguez, Maria José;
- Nascimento, Andrés;
- Jiménez-Mallebrera, Celilia;
- González-Quereda, Lidia;
- Rivas, Eloy;
- Paradas, Carmen;
- Madruga, Marcos;
- Sánchez-Ayaso, Pedro;
- Jou, Cristina;
- González-Mera, Jorge;
- Munell, Francina;
- Roig-Quilis, Manuel;
- Rabasa, Maria;
- Hernández-Lain, Aurelio;
- Díaz-Manera, Jorge;
- Gallardo, Eduard;
- Pascual, Jordi;
- Verdura, Edgard;
- Colomer, Jaume
Publication type:
Article
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Published in:
2019
By:
- Cruz, Pedro M. Rodríguez;
- Cossins, Judith;
- Estephan, Eduardo de Paula;
- Munell, Francina;
- Selby, Kathryn;
- Hirano, Michio;
- Maroofin, Reza;
- Mehrjardi, Mohammad Yahya Vahidi;
- Chow, Gabriel;
- Carr, Aisling;
- Manzur, Adnan;
- Robb, Stephanie;
- Munot, Pinki;
- Liu, Wei Wei;
- Banka, Siddharth;
- Fraser, Harry;
- Goede, Christian De;
- Zanoteli, Edmar;
- Reed, Umbertina Conti;
- Sage, Abigail
Publication type:
journal article
Transgenic animal models in reproductive endocrine research.
Published in:
European Journal of Endocrinology, 1997, v. 136, n. 6, p. 566, doi. 10.1530/eje.0.1360566
By:
- Reventós, Jaume;
- Munell, Francina
Publication type:
Article
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8289, doi. 10.3390/ijms23158289
By:
- Blasco-Pérez, Laura;
- Costa-Roger, Mar;
- Leno-Colorado, Jordi;
- Bernal, Sara;
- Alias, Laura;
- Codina-Solà, Marta;
- Martínez-Cruz, Desirée;
- Castiglioni, Claudia;
- Bertini, Enrico;
- Travaglini, Lorena;
- Millán, José M.;
- Aller, Elena;
- Sotoca, Javier;
- Juntas, Raúl;
- Hoei-Hansen, Christina Engel;
- Moreno-Escribano, Antonio;
- Guillén-Navarro, Encarna;
- Costa-Comellas, Laura;
- Munell, Francina;
- Boronat, Susana
Publication type:
Article
Diabetes Protects from Prostate Cancer by Downregulating Androgen Receptor: New Insights from LNCaP Cells and PAC120 Mouse Model.
Published in:
PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074179
By:
- Barbosa-Desongles, Anna;
- Hernández, Cristina;
- De Torres, Ines;
- Munell, Francina;
- Poupon, Marie-France;
- Simó, Rafael;
- Selva, David M.
Publication type:
Article
Human SHBG mRNA Translation Is Modulated by Alternative 5'-Non-Coding Exons 1A and 1B.
Published in:
PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0013844
By:
- Pinós, Tomàs;
- Barbosa-Desongles, Anna;
- Hurtado, Antoni;
- Santamaria-Martínez, Albert;
- de Torres, Inés;
- Reventós, Jaume;
- Munell, Francina
Publication type:
Article
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.
Published in:
2019
By:
- Gómez‐Andrés, David;
- Díaz, Jorge;
- Munell, Francina;
- Sánchez‐Montáñez, Ángel;
- Pulido‐Valdeolivas, Irene;
- Suazo, Lionel;
- Garrido, Cristián;
- Quijano‐Roy, Susana;
- Bevilacqua, Jorge A.;
- Gómez-Andrés, David;
- Sánchez-Montáñez, Ángel;
- Pulido-Valdeolivas, Irene;
- Quijano-Roy, Susana
Publication type:
journal article
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.
Published in:
2018
By:
- GóMez‐Andrés, David;
- Díaz‐Manera, Jordi;
- Alejaldre, Aida;
- Pulido‐Valdeolivas, Irene;
- GonzáLez‐mera, Laura;
- Olivé, Montse;
- Vilchez, Juan José;
- De Munain, Adolfo LóPez;
- Paradas, Carmen;
- Muelas, Nuria;
- SáNchez‐MontáÑez, Ángel;
- Alonso‐Jimenez, Alicia;
- De la banda, Marta Gómez García;
- Dabaj, Ivana;
- Bonne, Gisèle;
- Munell, Francina;
- Carlier, Robert Y.;
- Quijano‐Roy, Susana;
- GóMez-Andrés, David;
- Díaz-Manera, Jordi
Publication type:
journal article
Naturally occurring cell death during postnatal development of rat skeletal muscle.
Published in:
Muscle & Nerve, 2002, v. 26, n. 6, p. 777, doi. 10.1002/mus.10268
By:
- Torres, Carmen De;
- Munell, Francina;
- Roig, Manuel;
- Reventós, Jaume;
- Macaya, Alfons
Publication type:
Article
Human Sperm Sex Hormone-Binding Globulin Isoform: Characterization and Measurement by Time-Resolved Fluorescence Immunoassay.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 11, p. 6275, doi. 10.1210/jc.2005-1192
By:
- Selva, David M.;
- Bassas, Lluis;
- Munell, Francina;
- Mata, Ana;
- Tekpetey, Francis;
- Lewis, John G.;
- Hammond, Geoffrey L.
Publication type:
Article
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
Published in:
2021
By:
- Domínguez-González, Cristina;
- Madruga-Garrido, Marcos;
- Hirano, Michio;
- Martí, Itxaso;
- Martín, Miguel A.;
- Munell, Francina;
- Nascimento, Andrés;
- Olivé, Montse;
- Quan, Joanne;
- Sardina, M. Dolores;
- Martí, Ramon;
- Paradas, Carmen
Publication type:
journal article
Evolution of pathological changes in the gastrocnemius of the mdx mice correlate with utrophin and ß-dystroglycan expression.
Published in:
Acta Neuropathologica, 2004, v. 108, n. 5, p. 443, doi. 10.1007/s00401-004-0908-1
By:
- Roma, Josep;
- Munell, Francina;
- Fargas, Arnau;
- Roig, Manuel
Publication type:
Article
Longitudinal pathologic study of the gastrocnemius muscle group in mdx mice.
Published in:
Acta Neuropathologica, 2004, v. 107, n. 1, p. 27, doi. 10.1007/s00401-003-0773-3
By:
- Roig, Manuel;
- Roma, Josep;
- Fargas, Arnau;
- Munell, Francina
Publication type:
Article
A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy.
Published in:
Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1442, doi. 10.1002/acn3.51834
By:
- Mohassel, Payam;
- Yun, Pomi;
- Syeda, Safoora;
- Batra, Abhinandan;
- Bradley, Andrew J.;
- Donkervoort, Sandra;
- Monges, Soledad;
- Cohen, Julie S.;
- Leung, Doris G.;
- Munell, Francina;
- Ortez, Carlos;
- Sánchez‐Montáñez, Angel;
- Karachunski, Peter;
- Brandsema, John;
- Medne, Livija;
- Chaudhry, Vinay;
- Tasca, Giorgio;
- Foley, A. Reghan;
- Udd, Bjarne;
- Arai, Andrew E.
Publication type:
Article
The calcium-sensing receptor is silenced by genetic and epigenetic mechanisms in unfavorable neuroblastomas and its reactivation induces ERK1/2-dependent apoptosis.
Published in:
Carcinogenesis, 2013, v. 34, n. 2, p. 268, doi. 10.1093/carcin/bgs338
By:
- Casalà, Carla;
- Gil-Guiñón, Estel;
- Ordóñez, José Luis;
- Miguel-Queralt, Solange;
- Rodríguez, Eva;
- Galván, Patricia;
- Lavarino, Cinzia;
- Munell, Francina;
- de Alava, Enrique;
- Mora, Jaume;
- de Torres, Carmen
Publication type:
Article
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Published in:
Clinical Genetics, 2023, v. 103, n. 2, p. 167, doi. 10.1111/cge.14248
By:
- Wongkittichote, Parith;
- Choi, Tae‐Ik;
- Kim, Oc‐Hee;
- Riley, Kacie;
- Koeberl, Dwight;
- Narayanan, Vinodh;
- Ramsey, Keri;
- Balak, Chris;
- Schwartz, Charles E.;
- Cueto‐Gonzalez, Anna Maria;
- Casadesus, Francina Munell;
- Kim, Cheol‐Hee;
- Shinawi, Marwan S.
Publication type:
Article
Evidence of Nuclear DNA Fragmentation Following Hypoxia-Ischemia in the Infant Rat Brain, and Transient Forebrain Ischemia in the Adult Gerbil.
Published in:
Brain Pathology, 1994, v. 4, n. 2, p. 115, doi. 10.1111/j.1750-3639.1994.tb00821.x
By:
- Ferrer, Isidro;
- Tortosa, Avelina;
- Macaya, Alfons;
- Sierra, Angels;
- Moreno, Dolores;
- Munell, Francina;
- Blanco, Rosa;
- Squier, Waney
Publication type:
Article
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Published in:
2019
By:
- Domínguez‐González, Cristina;
- Madruga‐Garrido, Marcos;
- Mavillard, Fabiola;
- Garone, Caterina;
- Aguirre‐Rodríguez, Francisco Javier;
- Donati, M. Alice;
- Kleinsteuber, Karin;
- Martí, Itxaso;
- Martín‐Hernández, Elena;
- Morealejo‐Aycinena, Juan P.;
- Munell, Francina;
- Nascimento, Andrés;
- Kalko, Susana G.;
- Sardina, M. Dolores;
- Álvarez del Vayo, Concepcion;
- Serrano, Olga;
- Long, Yuelin;
- Tu, Yuqi;
- Levin, Bruce;
- Thompson, John L. P.
Publication type:
journal article
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Published in:
Journal of Neurology, 2022, v. 269, n. 5, p. 2414, doi. 10.1007/s00415-021-10806-0
By:
- Quijano-Roy, Susana;
- Haberlova, Jana;
- Castiglioni, Claudia;
- Vissing, John;
- Munell, Francina;
- Rivier, François;
- Stojkovic, Tanya;
- Malfatti, Edoardo;
- Gómez García de la Banda, Marta;
- Tasca, Giorgio;
- Costa Comellas, Laura;
- Benezit, Audrey;
- Amthor, Helge;
- Dabaj, Ivana;
- Gontijo Camelo, Clara;
- Laforêt, Pascal;
- Rendu, John;
- Romero, Norma B.;
- Cavassa, Eliana;
- Fattori, Fabiana
Publication type:
Article
COVID-19 in children with neuromuscular disorders.
Published in:
Journal of Neurology, 2021, v. 268, n. 9, p. 3081, doi. 10.1007/s00415-020-10339-y
By:
- Natera-de Benito, Daniel;
- Aguilera-Albesa, Sergio;
- Costa-Comellas, Laura;
- García-Romero, Mar;
- Miranda-Herrero, María Concepción;
- Rúbies Olives, Júlia;
- García-Campos, Óscar;
- Martínez del Val, Elena;
- Martinez Garcia, Maria Josefa;
- Medina Martínez, Inmaculada;
- Cancho-Candela, Ramón;
- Fernandez-Garcia, Miguel A.;
- Pascual-Pascual, Samuel Ignacio;
- Gómez-Andrés, David;
- Nascimento, Andres;
- Neuromuscular Working Group of Spanish Pediatric Neurology Society;
- Camacho, Ana;
- Ortez, Carlos;
- Madruga, Marcos;
- Munell, Francina
Publication type:
Article
Congenital myasthenic syndrome caused by novel COL13A1 mutations.
Published in:
Journal of Neurology, 2019, v. 266, n. 5, p. 1107, doi. 10.1007/s00415-019-09239-7
By:
- Dusl, Marina;
- Moreno, Teresa;
- Munell, Francina;
- Macaya, Alfons;
- Gratacòs, Margarida;
- Abicht, Angela;
- Strom, Tim M.;
- Lochmüller, Hanns;
- Senderek, Jan
Publication type:
Article
Treatment of spinal muscular atrophy in European countries: A call to action.
Published in:
European Journal of Neurology, 2022, v. 29, n. 11, p. 3475, doi. 10.1111/ene.15522
By:
- Vázquez‐Costa, Juan F.;
- Martínez‐Moreno, Mercedes;
- Madruga‐Garrido, Marcos;
- Munell, Francina;
- Nascimento, Andrés;
- Pitarch‐Castellano, Inmaculada;
- Pascual‐Pascual, Samuel Ignacio;
- Povedano, Mónica;
- Cattinari, Maria Grazia
Publication type:
Article
Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum.
Published in:
Journal of Child Neurology, 2013, v. 28, n. 11, p. 1531, doi. 10.1177/0883073812460580
By:
- Monlleo-Neila, Laura;
- Toro, Mireia del;
- Bornstein, Belen;
- Garcia-Arumi, Elena;
- Sarrias, Axel;
- Roig-Quilis, Manuel;
- Munell, Francina
Publication type:
Article
eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics.
Published in:
Human Mutation, 2019, v. 40, n. 7, p. 865, doi. 10.1002/humu.23772
By:
- Bosio, Mattia;
- Drechsel, Oliver;
- Rahman, Rubayte;
- Muyas, Francesc;
- Rabionet, Raquel;
- Bezdan, Daniela;
- Domenech Salgado, Laura;
- Hor, Hyun;
- Schott, Jean‐Jacques;
- Munell, Francina;
- Colobran, Roger;
- Macaya, Alfons;
- Estivill, Xavier;
- Ossowski, Stephan
Publication type:
Article
Survival among children with 'Lethal' congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN).
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1477, doi. 10.1002/humu.23297
By:
- Wambach, Jennifer A.;
- Stettner, Georg M.;
- Haack, Tobias B.;
- Writzl, Karin;
- Škofljanec, Andreja;
- Maver, Aleš;
- Munell, Francina;
- Ossowski, Stephan;
- Bosio, Mattia;
- Wegner, Daniel J.;
- Shinawi, Marwan;
- Baldridge, Dustin;
- Alhaddad, Bader;
- Strom, Tim M.;
- Grange, Dorothy K.;
- Wilichowski, Ekkehard;
- Troxell, Robin;
- Collins, James;
- Warner, Barbara B.;
- Schmidt, Robert E.
Publication type:
Article
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.
Published in:
BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-91
By:
- Kalko, Susana Graciela;
- Paco, Sonia;
- Jou, Cristina;
- Rodríguez, Maria Angels;
- Meznaric, Marija;
- Rogac, Mihael;
- Jekovec-Vrhovsek, Maja;
- Sciacco, Monica;
- Moggio, Maurizio;
- Fagiolari, Gigliola;
- De Paepe, Boel;
- De Meirleir, Linda;
- Ferrer, Isidre;
- Roig-Quilis, Manel;
- Munell, Francina;
- Montoya, Julio;
- López-Gallardo, Eduardo;
- Ruiz-Pesini, Eduardo;
- Artuch, Rafael;
- Montero, Raquel
Publication type:
Article
Identification and characterization of new isoforms of human fas apoptotic inhibitory molecule (FAIM).
Published in:
PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0185327
By:
- Coccia, Elena;
- Calleja-Yagüe, Isabel;
- Planells-Ferrer, Laura;
- Sanuy, Blanca;
- Sanz, Belen;
- López-Soriano, Joaquin;
- Moubarak, Rana S.;
- Munell, Francina;
- Barneda-Zahonero, Bruna;
- Comella, Joan X.;
- Pérez-García, M. Jose
Publication type:
Article

Found: 29