Works matching AU Paradas, Carmen

Results: 31

Altered mitochondria-associated ER membrane (MAM) function shifts mitochondrial metabolism in amyotrophic lateral sclerosis (ALS).
Published in:
Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-024-51578-1
By:
- Larrea, Delfina;
- Tamucci, Kirstin A.;
- Kabra, Khushbu;
- Velasco, Kevin R.;
- Yun, Taekyung D.;
- Pera, Marta;
- Montesinos, Jorge;
- Agrawal, Rishi R.;
- Paradas, Carmen;
- Smerdon, John W.;
- Lowry, Emily R.;
- Stepanova, Anna;
- Yoval-Sanchez, Belem;
- Galkin, Alexander;
- Wichterle, Hynek;
- Area-Gomez, Estela
Publication type:
Article
Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease.
Published in:
European Journal of Neurology, 2023, v. 30, n. 4, p. 861, doi. 10.1111/ene.15661
By:
- Vázquez‐Costa, Juan F.;
- Borrego‐Hernández, Daniel;
- Paradas, Carmen;
- Gómez‐Caravaca, María Teresa;
- Rojas‐Garcia, Ricardo;
- Varona, Luis;
- Povedano, Mónica;
- García‐Sobrino, Tania;
- Jericó Pascual, Ivonne;
- Gutiérrez, Antonio;
- Riancho, Javier;
- Turon‐Sans, Janina;
- Assialioui, Abdelilah;
- Pérez‐Tur, Jordi;
- Sevilla, Teresa;
- Esteban Pérez, Jesús;
- García‐Redondo, Alberto;
- López, Alberto Andrés;
- Calabria, M. Dolores;
- Díaz‐Marín, Carmen
Publication type:
Article
Charcot–Marie–Tooth disease due to MORC2 mutations in Spain.
Published in:
European Journal of Neurology, 2021, v. 28, n. 9, p. 3001, doi. 10.1111/ene.15001
By:
- Sivera, Rafael;
- Lupo, Vincenzo;
- Frasquet, Marina;
- Argente‐Escrig, Herminia;
- Alonso‐Pérez, Jorge;
- Díaz‐Manera, Jordi;
- Querol, Luis;
- del Mar García‐Romero, María;
- Ignacio Pascual, Samuel;
- García‐Sobrino, Tania;
- Paradas, Carmen;
- Francisco Vázquez‐Costa, Juan;
- Muelas, Nuria;
- Millet, Elvira;
- Jesús Vílchez, Juan;
- Espinós, Carmen;
- Sevilla, Teresa
Publication type:
Article
Clinical characteristics and outcomes of thymoma‐associated myasthenia gravis.
Published in:
European Journal of Neurology, 2021, v. 28, n. 6, p. 2083, doi. 10.1111/ene.14820
By:
- Álvarez‐Velasco, Rodrigo;
- Gutiérrez‐Gutiérrez, Gerardo;
- Trujillo, Juan Carlos;
- Martínez, Elisabeth;
- Segovia, Sonia;
- Arribas‐Velasco, Marina;
- Fernández, Guillermo;
- Paradas, Carmen;
- Vélez‐Gómez, Beatriz;
- Casasnovas, Carlos;
- Nedkova, Velina;
- Guerrero‐Sola, Antonio;
- Ramos‐Fransi, Alba;
- Martínez‐Piñeiro, Alicia;
- Pardo, Julio;
- Sevilla, Teresa;
- Gómez‐Caravaca, María Teresa;
- López de Munain, Adolfo;
- Jericó, Ivonne;
- Pelayo‐Negro, Ana L.
Publication type:
Article
Lessons learned from a sporadic FUSopathy in a young man: a case report.
Published in:
BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03082-0
By:
- García-Roldán, Ernesto;
- Rivas-Infante, Eloy;
- Medina-Rodríguez, Manuel;
- Arriola-Infante, José Enrique;
- Rodrigo-Herrero, Silvia;
- Paradas, Carmen;
- Rábano-Gutiérrez, Alberto;
- Franco-Macías, Emilio
Publication type:
Article
Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis.
Published in:
BMC Medicine, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1741-7015-11-77
By:
- Sáez, Aurora;
- Rivas, Eloy;
- Montero-Sánchez, Adoración;
- Paradas, Carmen;
- Acha, Begoña;
- Pascual, Alberto;
- Serrano, Carmen;
- Escudero, Luis M.
Publication type:
Article
Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis.
Published in:
2013
By:
- Sáez, Aurora;
- Rivas, Eloy;
- Montero-Sánchez, Adoración;
- Paradas, Carmen;
- Acha, Begoña;
- Pascual, Alberto;
- Serrano, Carmen;
- Escudero, Luis M
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
Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: A retrospective study.
Published in:
Muscle & Nerve, 2013, v. 48, n. 6, p. 870, doi. 10.1002/mus.23843
By:
- Querol, Luis;
- Rojas‐Garcia, Ricard;
- Casasnovas, Carlos;
- Sedano, Maria Jose;
- Muñoz‐Blanco, Jose Luis;
- Alberti, Maria Antonia;
- Paradas, Carmen;
- Sevilla, Teresa;
- Pardo, Julio;
- Capablo, Jose Luis;
- Sivera, Rafael;
- Guerrero, Antonio;
- Gutierrez‐Rivas, Eduardo;
- Illa, Isabel
Publication type:
Article
Prednisone can worsen ataxic neuropathy with anti-disialosyl IgM antibodies.
Published in:
Muscle & Nerve, 2011, v. 44, n. 5, p. 839, doi. 10.1002/mus.22172
By:
- Paradas, Carmen;
- Morgado, Yolanda;
- Gallardo, Eduard;
- Juarez, Cándido;
- Rojas-García, Ricard
Publication type:
Article
Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease.
Published in:
JAMA Neurology, 2015, v. 72, n. 4, p. 441, doi. 10.1001/jamaneurol.2014.4496
By:
- Akman, H. Orhan;
- Kakhlon, Or;
- Coku, Jorida;
- Peverelli, Lorenzo;
- Rosenmann, Hanna;
- Rozenstein-Tsalkovich, Lea;
- Turnbull, Julie;
- Meiner, Vardiella;
- Chama, Liat;
- Lerer, Israela;
- Shpitzen, Shoshi;
- Leitersdorf, Eran;
- Paradas, Carmen;
- Wallace, Mary;
- Schiffmann, Raphael;
- DiMauro, Salvatore;
- Lossos, Alexander;
- Minassian, Berge A.
Publication type:
Article
Branching Enzyme Deficiency.
Published in:
JAMA Neurology, 2014, v. 71, n. 1, p. 41, doi. 10.1001/jamaneurol.2013.4888
By:
- Paradas, Carmen;
- Akman, Hasan O.;
- Ionete, Carolina;
- Lau, Heather;
- Riskind, Peter N.;
- Jones, David E.;
- Smith, Thomas W.;
- Hirano, Michio;
- DiMauro, Salvatore
Publication type:
Article
Longitudinal Clinical Follow-up of a Large Family With the R357P Twinkle Mutation.
Published in:
JAMA Neurology, 2013, v. 70, n. 11, p. 1425, doi. 10.1001/jamaneurol.2013.3185
By:
- Paradas, Carmen;
- Camaño, Pilar;
- Otaegui, David;
- Oz, Oguzhan;
- Emmanuele, Valentina;
- DiMauro, Salvatore;
- Hirano, Michio
Publication type:
Article
Water T2 could predict functional decline in patients with dysferlinopathy.
Published in:
Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 6, p. 2888, doi. 10.1002/jcsm.13063
By:
- Moore, Ursula;
- Caldas de Almeida Araújo, Ericky;
- Reyngoudt, Harmen;
- Gordish‐Dressman, Heather;
- Smith, Fiona E.;
- Wilson, Ian;
- James, Meredith;
- Mayhew, Anna;
- Rufibach, Laura;
- Day, John W.;
- Jones, Kristi J.;
- Bharucha‐Goebel, Diana X.;
- Salort‐Campana, Emmanuelle;
- Pestronk, Alan;
- Walter, Maggie C.;
- Paradas, Carmen;
- Stojkovic, Tanya;
- Mori‐Yoshimura, Madoka;
- Bravver, Elena;
- Pegoraro, Elena
Publication type:
Article
Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
Published in:
Clinical Genetics, 2021, v. 100, n. 1, p. 106, doi. 10.1111/cge.13964
By:
- Mavillard, Fabiola;
- Servián‐Morilla, Emilia;
- Rivas, Eloy;
- Paradas, Carmen;
- Cabrera‐Serrano, Macarena
Publication type:
Article
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 12, p. 4213, doi. 10.1093/brain/awae249
By:
- Monceau, Alexandra;
- Nath, Rasya Gokul;
- Suárez-Calvet, Xavier;
- Musumeci, Olimpia;
- Toscano, Antonio;
- Kierdaszuk, Biruta;
- Kostera-Pruszczyk, Anna;
- Domínguez-González, Cristina;
- Hernández-Lain, Aurelio;
- Paradas, Carmen;
- Rivas, Eloy;
- Papadimas, George;
- Papadopoulos, Constantinos;
- Chrysanthou-Piterou, Margarita;
- Gallardo, Eduard;
- Olivé, Montse;
- Lilleker, James;
- Roberts, Mark E;
- Marchese, Domenica;
- Lunazzi, Giulia
Publication type:
Article
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5235, doi. 10.1093/brain/awad256
By:
- Mavillard, Fabiola;
- Servian-Morilla, Emilia;
- Dofash, Lein;
- Rojas-Marcos, Iñigo;
- Folland, Chiara;
- Monahan, Gavin;
- Gutierrez-Gutierrez, Gerardo;
- Rivas, Eloy;
- Hernández-Lain, Aurelio;
- Valladares, Amador;
- Cantero, Gloria;
- Morales, Jose M;
- Laing, Nigel G;
- Paradas, Carmen;
- Ravenscroft, Gianina;
- Cabrera-Serrano, Macarena
Publication type:
Article
1α,25(OH)<sub>2</sub>-Vitamin D3 Increases Dysferlin Expression in vitro and in a Human Clinical Trial.
Published in:
Molecular Therapy, 2012, v. 20, n. 10, p. 1988, doi. 10.1038/mt.2012.156
By:
- Luna, Noemi De;
- Díaz-Manera, Jordi;
- Paradas, Carmen;
- Iturriaga, Cristina;
- Rojas-García, Ricardo;
- Araque, Josefa;
- Genebriera, Mireia;
- Gich, Ignasi;
- Illa, Isabel;
- Gallardo, Eduard
Publication type:
Article
Rules of tissue packing involving different cell types: human muscle organization.
Published in:
Scientific Reports, 2017, p. 40444, doi. 10.1038/srep40444
By:
- Sánchez-Gutiérrez, Daniel;
- Sáez, Aurora;
- Gómez-Gálvez, Pedro;
- Paradas, Carmen;
- Escudero, Luis M.
Publication type:
Article
Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Published in:
Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00650
By:
- Herrera-Olivares, Alba M.;
- Fernández-Luque, Jose A.;
- Paradas, Carmen;
- Lucia, Alejandro;
- Santalla, Alfredo
Publication type:
Article
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy.
Published in:
Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.613446
By:
- Moore, Ursula;
- Jacobs, Marni;
- Fernandez-Torron, Roberto;
- LLauger Rossello, Jaume;
- Smith, Fiona E.;
- James, Meredith;
- Mayhew, Anna;
- Rufibach, Laura;
- Carlier, Pierre G.;
- Blamire, Andrew M.;
- Day, John W.;
- Jones, Kristi J.;
- Bharucha-Goebel, Diana X.;
- Salort-Campana, Emmanuelle;
- Pestronk, Alan;
- Walter, Maggie C.;
- Paradas, Carmen;
- Stojkovic, Tanya;
- Mori-Yoshimura, Madoka;
- Bravver, Elena
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
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
Published in:
2024
By:
- Esteller, Diana;
- Schiava, Marianela;
- Verdú-Díaz, José;
- Villar-Quiles, Rocío-Nur;
- Dibowski, Boris;
- Venturelli, Nadia;
- Laforet, Pascal;
- Alonso-Pérez, Jorge;
- Olive, Montse;
- Domínguez-González, Cristina;
- Paradas, Carmen;
- Vélez, Beatriz;
- Kostera-Pruszczyk, Anna;
- Kierdaszuk, Biruta;
- Rodolico, Carmelo;
- Claeys, Kristl;
- Pál, Endre;
- Malfatti, Edoardo;
- Souvannanorath, Sarah;
- Alonso-Jiménez, Alicia
Publication type:
Correction Notice
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Published in:
Journal of Neurology, 2023, v. 270, n. 12, p. 5849, doi. 10.1007/s00415-023-11862-4
By:
- Esteller, Diana;
- Schiava, Marianela;
- Villar-Quiles, Rocío-Nur;
- Dibowski, Boris;
- Venturelli, Nadia;
- Laforet, Pascal;
- Alonso-Pérez, Jorge;
- Olive, Montse;
- Domínguez-González, Cristina;
- Paradas, Carmen;
- Vélez, Beatriz;
- Kostera-Pruszczyk, Anna;
- Kierdaszuk, Biruta;
- Rodolico, Carmelo;
- Claeys, Kristl;
- Pál, Endre;
- Malfatti, Edoardo;
- Souvannanorath, Sarah;
- Alonso-Jiménez, Alicia;
- de Ridder, Willem
Publication type:
Article
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
Published in:
Journal of Neurology, 2022, v. 269, n. 7, p. 3550, doi. 10.1007/s00415-021-10957-0
By:
- Domínguez-González, Cristina;
- Fernández-Torrón, Roberto;
- Moore, Ursula;
- de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
- Vélez-Gómez, Beatriz;
- Cabezas, Juan Antonio;
- Alonso-Pérez, Jorge;
- González-Mera, Laura;
- Olivé, Montse;
- García-García, Jorge;
- Moris, Germán;
- León Hernández, Juan Carlos;
- Muelas, Nuria;
- Servian-Morilla, Emilia;
- Martin, Miguel A.;
- Díaz-Manera, Jordi;
- Paradas, Carmen
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
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
Published in:
2018
By:
- Garibaldi, Matteo;
- Fattori, Fabiana;
- Bortolotti, Carlo Augusto;
- Brochier, Guy;
- Labasse, Clemence;
- Verardo, Margherita;
- Servian-Morilla, Emilia;
- Gibellini, Lara;
- Pinti, Marcello;
- Di Rocco, Giulia;
- Raffa, Salvatore;
- Pennisi, Elena Maria;
- Bertini, Enrico Silvio;
- Paradas, Carmen;
- Romero, Norma Beatriz;
- Antonini, Giovanni
Publication type:
Letter
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66940-8
By:
- Dominguez-Gonzalez, Cristina;
- Badosa, Carmen;
- Madruga-Garrido, Marcos;
- Martí, Itxaso;
- Paradas, Carmen;
- Ortez, Carlos;
- Diaz-Manera, Jordi;
- Berardo, Andres;
- Alonso-Pérez, Jorge;
- Trifunov, Selena;
- Cuadras, Daniel;
- Kalko, Susana G.;
- Blázquez-Bermejo, Cora;
- Cámara, Yolanda;
- Martí, Ramon;
- Mavillard, Fabiola;
- Martin, Miguel A.;
- Montoya, Julio;
- Ruiz-Pesini, Eduardo;
- Villarroya, Joan
Publication type:
Article
Drug‐refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 2, p. 122, doi. 10.1002/acn3.51492
By:
- Cortés‐Vicente, Elena;
- Álvarez‐Velasco, Rodrigo;
- Pla‐Junca, Francesc;
- Rojas‐Garcia, Ricard;
- Paradas, Carmen;
- Sevilla, Teresa;
- Casasnovas, Carlos;
- Gómez‐Caravaca, María Teresa;
- Pardo, Julio;
- Ramos‐Fransi, Alba;
- Pelayo‐Negro, Ana Lara;
- Gutiérrez‐Gutiérrez, Gerardo;
- Turon‐Sans, Janina;
- López de Munain, Adolfo;
- Guerrero‐Sola, Antonio;
- Jericó, Ivonne;
- Martín, María Asunción;
- Mendoza, María Dolores;
- Morís, Germán;
- Vélez‐Gómez, Beatriz
Publication type:
Article
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 11, p. 2328, doi. 10.1002/acn3.50910
By:
- Mavillard, Fabiola;
- Madruga‐Garrido, Marcos;
- Rivas, Eloy;
- Servián‐Morilla, Emilia;
- Ávila‐Polo, Rainiero;
- Marcos, Irene;
- Morón, Francisco J.;
- Paradas, Carmen;
- Cabrera‐Serrano, Macarena
Publication type:
Article