المؤلفون: Armirola Ricaurte, Maria Camila, Zonnekein, Noortje, Koutsis, Georgios, Amor Barris, Silvia, Pelayo-Negro, Ana Lara, Atkinson, Derek, Efthymiou, Stephanie, Turchetti, Valentina, Dinopoulos, Argyris, Garcia, Antonio, Karakaya, Mert, Moris, German, Polat, Ayse Ipek, Yis, Uluc, Espinos, Carmen, Van de Vondel, Liedewei, De Vriendt, Els, Karadima, Georgia, Wirth, Brunhilde, Hanna, Michael, Houlden, Henry, Berciano, Jose, Jordanova, Albena

المصدر: 1098-3600 ; Genetics in medicine

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/grantAgreement/EC/fp7/305121; info:eu-repo/grantAgreement/EC/h2020/779257; info:eu-repo/semantics/altIdentifier/isi/001230209800001

الاتاحة: https://hdl.handle.net/10067/2067020151162165141
https://repository.uantwerpen.be/docstore/d:irua:24226

المؤلفون: Armirola-Ricaurte, Camila, Zonnekein, Noortje, Koutsis, Georgios, Amor-Barris, Silvia, Pelayo-Negro, Ana Lara, Atkinson, Derek, Efthymiou, Stephanie, Turchetti, Valentina, Dinopoulos, Argyris, Garcia, Antonio, Karakaya, Mert, Moris, German, Polat, Ayşe Ipek, Yiş, Uluç, Espinos, Carmen, Van de Vondel, Liedewei, De Vriendt, Els, Karadima, Georgia, Wirth, Brunhilde, Hanna, Michael, Houlden, Henry, Berciano, Jose, Jordanova, Albena

المساهمون: Horizon 2020, DFG, FP7, ABMM, AFM-Téléthon, Wellcome Trust, BBSRC, Brain Research UK, Michael J Fox Foundation for Parkinson's Research, ERDF, Rosetrees Trust, Fidelity Foundation, Ataxia UK, FWO

المصدر: Genetics in Medicine ; volume 26, issue 6, page 101117 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2024.101117
https://api.elsevier.com/content/article/PII:S1098360024000509?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024000509?httpAccept=text/plain

المؤلفون: 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, García-Sobrino, Tania, Pascual-Goñi, Elba, Reyes-Leiva, David, Illa Sendra, Isabel, Gallardo, Eduard

المصدر: Articles publicats en revistes (Ciències Clíniques)

مصطلحات موضوعية: Assaigs clínics de medicaments, Malalties musculars, Immunologia, Efectes secundaris dels medicaments, Drug testing, Muscular Diseases, Immunology, Drug side effects

وصف الملف: 10 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1002/acn3.51492; Annals of Clinical and Translational Neurology, 2022, vol. 9, num. 2, p. 122-131; https://doi.org/10.1002/acn3.51492; http://hdl.handle.net/2445/198171; 721876

الاتاحة: http://hdl.handle.net/2445/198171

المؤلفون: 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

مصطلحات موضوعية: MRI, Mitochondrial myopathy, TK2, Adult, DNA, Mitochondrial, Humans, Magnetic Resonance Imaging, Mitochondrial Myopathies, Muscle, Skeletal, Muscular Diseases

وصف الملف: application/pdf

Relation: http://hdl.handle.net/10668/20008; PMC9217784; https://link.springer.com/content/pdf/10.1007/s00415-021-10957-0.pdf; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217784/pdf

الاتاحة: http://hdl.handle.net/10668/20008
https://doi.org/10.1007/s00415-021-10957-0
https://link.springer.com/content/pdf/10.1007/s00415-021-10957-0.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217784/pdf

المؤلفون: Rosas, Irene, Morís, Germán, Coto, Eliecer, Blázquez-Estrada, Marta, Suárez, Esther, García-Fernández, Ciara, Martínez, Carmen, Herrera, Israel Duarte, Pérez-Oliveira, Sergio, Álvarez, Victoria, Menéndez-González, Manuel, Adarmes-Gómez, Astrid D., Aguilar, Miquel, Alvarez, Ignacio, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María Teresa, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols-Icardo, Oriol, de Fabregues, Oriol, Cartagena, Pilar Sanz, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández-Santiago, Rubén, Fernández, Manel, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Gorostidi, Ana, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, López de Munain, Adolfo, Macias-Garcia, Daniel

المصدر: Parkinsonism & Related Disorders ; volume 97, page 79-83 ; ISSN 1353-8020

الاتاحة: http://dx.doi.org/10.1016/j.parkreldis.2022.03.005
https://api.elsevier.com/content/article/PII:S1353802022000633?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1353802022000633?httpAccept=text/plain

المؤلفون: Domínguez-González, Cristina, Hernández-Voth, Ana, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Guerrero, Laura Bermejo, Morís, Germán, García-García, Jorge, Muelas, Nuria, León Hernández, Juan Carlos, Rabasa, Maria, Lora, David, Blázquez, Alberto, Arenas, Joaquín, Martin, Miguel Ángel

المصدر: Neuromuscular Disorders ; volume 32, issue 9, page 728-735 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2022.07.399
https://api.elsevier.com/content/article/PII:S0960896622006010?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896622006010?httpAccept=text/plain

المؤلفون: Martinez-Marin, Rafael Jenaro, Reyes-Leiva, David, Nascimento, Andrés, Muelas, Nuria, Dominguez-González, C., Paradas, Carmen, Olivé, Montse, García-Romero, Mar, Pascual-Pascual, Samuel Ignacio, Grau, Josep Maria, Barba-Romero, Miguel Angel, Gomez-Caravaca, Maria Teresa, de las Heras, Javier, Casquero, Pilar, Mendoza, Maria Dolores, de León, Juan Carlos, Gutierrez, Antonio, Morís, Germán, Blanco-Lago, Raquel, Ramos-Fransi, Alba, Pintós, Guillem, García-Antelo, Maria José, Rabasa, Maria, Morgado, Yolanda, Usón, Mercedes, Miralles, Francisco Javier, Bárcena-Llona, Jose Eulalio, Gómez-Belda, Ana Belén, Pedraza-Hueso, Maria Isabel, Hortelano, Miryam, Colomé, Antoni, Garcia-Martin, Guillermina, Lopez de Munain, Adolfo, Jericó, Ivonne, Galán-Dávila, Lucía, Pardo, Julio, Salgueiro-Origlia, Giorgina, Alonso-Pérez, Jorge, Pla-Junca, Francesc, Schiava, Marianela, Segovia-Simón, Sonia, Díaz-Manera, Jordi

المصدر: Neuromuscular Disorders ; volume 34, page 1-8 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.10.001
https://api.elsevier.com/content/article/PII:S0960896623007460?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623007460?httpAccept=text/plain

المؤلفون: Traschutz, Andreas, Cortese, Andrea, Reich, Selina, Dominik, Natalia, Faber, Jennifer, Jacobi, Heike, Hartmann, Annette M., Rujescu, Dan, Montaut, Solveig, Echaniz‐laguna, Andoni, Echaniz-Laguna, Yon Andoni, Erer, Sevda, Schütz, Valerie Cornelia, Tarnutzer, Alexander A., Sturm, Marc, Haack, Tobias B., Vaucamps-Diedhiou, Nadège, Puccio, Hélène, Schöls, Ludger, Klockgether, Thomas, van de Warrenburg, Bart P., Paucar, Martin, Timmann, Dagmar, Hilgers, Ralf-Dieter, Gazulla, Jose, Strupp, Michael, Moris, German, Filla, Alessandro, Houlden, Henry, Anheim, Mathieu, Infante, Jon, Basak, A. Nazli, Synofzik, Matthis

المساهمون: German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Eberhard Karls Universität Tübingen = University of Tübingen, UCL Institute of Neurology, Queen Square London, Università degli Studi di Pavia Italia = University of Pavia Italy = Université de Pavie Italie (UNIPV), University Hospital Bonn, Heidelberg University Hospital Heidelberg, Martin-Luther-Universität Halle Wittenberg (MLU), Hôpital de Hautepierre Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS), Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Petites Molécules de neuroprotection, neurorégénération et remyélinisation, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Mécanismes Centraux et Périphériques de la Neurodégénérescence (MCPN), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Zürich Zürich = University of Zurich (UZH), Institute of Medical Genetics and Applied Genomics Tübingen, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Radboud University Medical Center Nijmegen (RadboudUMC), Karolinska Institute, Universität Duisburg-Essen = University of Duisburg-Essen Essen, RWTH Aachen University = Rheinisch-Westfälische Technische Hochschule Aachen (RWTH Aachen), Hospital Universitario Miguel Servet, Ludwig-Maximilians University Munich (LMU), University of Naples Federico II = Università degli studi di Napoli Federico II, Martin-Luther-University Halle-Wittenberg, Universidad de Cantabria Santander = University of Cantabria Spain = Université de Cantabrie Espagne (UC / UniCan), Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III Madrid (ISCIII), ANR-15-RAR3-0011,PREPARE,Preparing for therapies in autosomal recessive ataxias(2015)

المصدر: ISSN: 0028-3878.

مصطلحات موضوعية: [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

Relation: info:eu-repo/semantics/altIdentifier/pmid/33495376; PUBMED: 33495376; PUBMEDCENTRAL: PMC8055326

الاتاحة: https://hal.science/hal-03709465
https://hal.science/hal-03709465v1/document
https://hal.science/hal-03709465v1/file/PDF%20Datastream.pdf
https://doi.org/10.1212/WNL.0000000000011528

المؤلفون: Lleixà, Cinta, Martín-Aguilar, Lorena, Pascual-Goñi, Elba, Franco-Leyva, Teresa, Caballero-Ávila, Marta, de Luna Salva, Noemí, Gallardo, Eduard, Suarez-Calvet, Xavier, Martínez-Martínez, Laura, Diaz-Manera, Jordi, Rojas-Garcia, Ricard, Cortés-Vicente, Elena, Turón, Joana, Casasnovas, Carlos, Homedes, C., Gutiérrez-Gutiérrez, Gerardo, Jimeno-Montero, M. C., Berciano, José, Sedano-Tous, M. J., García-Sobrino, Tania, Pardo, Julio, Márquez-Infante, C., Rojas-Marcos, I., Jericó-Pascual, Ivonne, Martínez-Hernández, E., Morís, Germán, Domínguez-González, C., Juarez, Candido, Illa, Isabel, Querol, Luis, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Guillain-Barré syndrome, Autoantibodies, Anti-ganglioside, Neurons, Prognosis

وصف الملف: application/pdf

Relation: Instituto de Salud Carlos III FIS19-01407; Instituto de Salud Carlos III INT20-00080; Instituto de Salud Carlos III CD18-00195; Journal of neuroinflammation; Vol. 18 Núm. 1 (december 2021), p. 251; https://ddd.uab.cat/record/264728; urn:oai:ddd.uab.cat:264728; urn:scopus_id:85118390373; urn:articleid:17422094v18n1p251; urn:pmid:34719386; urn:pmcid:PMC8559393; urn:oai:pubmedcentral.nih.gov:8559393

الاتاحة: https://ddd.uab.cat/record/264728

المؤلفون: Traschuetz, Andreas, Cortese, Andrea, Erer, Sevda, Schütz, Valerie Cornelia, Tarnutzer, Alexander A, Sturm, Marc, Haack, Tobias B, Vaucamps-Diedhiou, Nadège, Puccio, Helene, Schöls, Ludger, Klockgether, Thomas, van de Warrenburg, Bart P, Reich, Selina, Paucar, Martin, Timmann, Dagmar, Hilgers, Ralf-Dieter, Gazulla, Jose, Strupp, Michael, Moris, German, Filla, Alessandro, Houlden, Henry, Anheim, Mathieu, Infante, Jon, Dominik, Natalia, Basak, A Nazli, Synofzik, Matthis, Group, RFC1 Study, Barut, Banu Özen, Bilgic, Basar, Boz, Cavit, Cauquil, Cécile, Deininger, Natalie, Dufke, Claudia, Elibol, Bülent, Faber, Jennifer, Erbas, Furkan, Ertan, Sibel, Genc, Fatma, Giegling, Ina, Parman, Yesim, Rossi, Salvatore, Salcin, Celal, Tan, Meliha, Taştekin, Hilal, Tranchant, Christine, Jacobi, Heike, Uygun, Günes, Yassa, Özge Yagcioglu, Hartmann, Annette M, Rujescu, Dan, Montaut, Solveig, Echaniz-Laguna, Andoni

المصدر: Neurology 96(9), e1369 - e1382 (2021). doi:10.1212/WNL.0000000000011528

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Aged, Ataxia, Bilateral Vestibulopathy, Cohort Studies, DNA Repeat Expansion, Disease Progression, Europe, Exome, Female, Genetic Testing, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Multiple System Atrophy: diagnosis, Multiple System Atrophy: diagnostic imaging, Multiple System Atrophy: genetics, Phenotype, Predictive Value of Tests, Replication Protein C: genetics, Turkey, Vestibular Diseases, RFC1 protein, human, Replication Protein C

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/pmid/pmid:33495376; info:eu-repo/semantics/altIdentifier/issn/0028-3878; https://pub.dzne.de/record/156023; https://pub.dzne.de/search?p=id:%22DZNE-2021-01155%22

الاتاحة: https://pub.dzne.de/record/156023
https://pub.dzne.de/search?p=id:%22DZNE-2021-01155%22

المؤلفون: Alonso-Jimenez, Alicia, Kroon, Rosemarie H M J M, Alejaldre-Monforte, Aida, Núñez-Peralta, Claudia, Horlings, Corinne G C, van Engelen, Baziel G M, Olive, Montse, González, Laura, Verges-Gil, Enric, Paradas, Carmen, Marquez, Celedonio, Garibaldi, Matteo, Gallano, Pia, González-Quereda, Lidia, Dominguez- González, Cristina, Vissing, John, Fornander, Freja, Eisum, Anne-Sofie Vibaek, García-Sobrino, Tania, Pardo, Julio, García-Figueiras, Roberto, Muelas, Nuria, Vilchez, Juan Jesús, Kapetanovic, Solange, Tasca, Giorgio, Monforte, Mauro, Ricci, Enzo, Gómez, María Teresa, Bevilacqua-Rivas, Jorge Alfredo, Díaz-Jara, Jorge, Zamorano, Ivonne Ingrid, Yves Carlier, Robert, Laforet, Pascal, Pelayo-Negro, Ana, Ramos-Fransi, Alba, Martínez, Amaia, Marini-Bettolo, Chiara, Straub, Volker, Gutierrez, Gerardo, Stojkovic, Tanya, Martin, María Asunción, Moris, Germán, Fernández-Torron, Roberto, López De Munain, Adolfo, Cortes-Vicente, Elena, Querol, Luis, Rojas-García, Ricardo, Illa, Isabel, Díaz-Manera, Jordi

Relation: handle/10533/111557; handle/10533/111541; handle/10533/108045; https://doi.org/10.1136/jnnp-2018-319578; 1151383; WOS:000471116400014; https://hdl.handle.net/10533/251890

الاتاحة: https://hdl.handle.net/10533/251890

المؤلفون: de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Morís, Germán, Jiménez-Mallebrera, Cecilia, Badosa, Carmen, Hernández-Laín, Aurelio, Blázquez Encinar, Alberto, Martín, Miguel Ángel, Domínguez-González, Cristina

المساهمون: Instituto de Salud Carlos III

المصدر: Molecular Genetics and Metabolism Reports ; volume 26, page 100701 ; ISSN 2214-4269

الاتاحة: http://dx.doi.org/10.1016/j.ymgmr.2020.100701
https://api.elsevier.com/content/article/PII:S2214426920301476?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2214426920301476?httpAccept=text/plain

المؤلفون: Cortés-Vicente, Elena, Álvarez-Velasco, Rodrigo, Segovia, Sonia, Paradas, Carmen, Casasnovas, Carlos, Guerrero-Sola, Antonio, Pardo, Julio, Ramos-Fransi, Alba, Sevilla, Teresa, López de Munain, Adolfo, Gómez, Maria Teresa, Jericó, Ivonne, Gutiérrez-Gutiérrez, Gerardo, Pelayo-Negro, Ana Lara, Martín, María Asunción, Mendoza, María Dolores, Morís, Germán, Rojas-Garcia, Ricard, Díaz-Manera, Jordi, Querol, Luis, Gallardo, Eduard, Vélez, Beatriz, Albertí, María Antonia, Galán, Lucía, García-Sobrino, Tania, Martínez-Piñeiro, Alicia, Lozano-Veintimilla, Ana, Fernández-Torrón, Roberto, Cano-Abascal, Ángel, Illa, Isabel

مصطلحات موضوعية: Adult, Age of Onset, Aged, Cross-Sectional Studies, Female, Humans, Male, Middle Aged, Myasthenia Gravis, Treatment Outcome

Relation: http://hdl.handle.net/10668/15126; PMC7220233; https://europepmc.org/articles/pmc7220233?pdf=render; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220233/pdf

الاتاحة: http://hdl.handle.net/10668/15126
https://doi.org/10.1212/WNL.0000000000008903
https://europepmc.org/articles/pmc7220233?pdf=render
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220233/pdf

المؤلفون: Domínguez González, Cristina, Hernández lain, Aurelio, Rivas, Eloy, Hernández Voth, Ana, Sayas Catalán, Javier, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge, Morís, Germán, Olivé i Plana, Montserrat, Miralles, Francesc, Díaz Manera, Jordi, Caballero, Candela, Méndez Ferrer, Bosco, Martí, Ramon, García Arumí, Elena, Badosa, Carmen, Esteban, Jesús, Jiménez-Mallebrera, Cecilia, Blázquez Encinar, Alberto, Arenas, Joaquín, Hirano, Michio, Martin, Miguel Ángel, Paradas, Carmen

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Mitocondris, Malalties musculars, Mitochondria, Muscular Diseases

وصف الملف: 10 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1186/s13023-019-1071-z; Orphanet Journal of Rare Diseases, 2019, vol. 14; https://doi.org/10.1186/s13023-019-1071-z; http://hdl.handle.net/2445/171554

الاتاحة: http://hdl.handle.net/2445/171554

المؤلفون: Domínguez-González, Cristina, Hernández-Laín, Aurelio, Rivas, Eloy, Hernández-Voth, Ana, Sayas Catalán, Javier, Fernández-Torrón, Roberto, Fuiza-Luces, Carmen, García García, Jorge, Morís, Germán, Olivé, Montse, Miralles, Frances, Díaz-Manera, Jordi, Caballero, Candela, Méndez-Ferrer, Bosco, Martí, Ramon, García Arumi, Elena, Badosa, María Carmen, Esteban, Jesús, Jimenez-Mallebrera, Cecilia, Blazquez Encinar, Alberto, Arenas, Joaquín, Hirano, Michio, Martin, Miguel Ángel, Paradas, Carmen

المساهمون: Dominguez-Gonzalez,C, Esteban,J Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. Dominguez-Gonzalez,C, Fuiza-Luces,C, Esteban,J, Blazquez Encinar,A, Arenas,J, Martin,MA Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain. Dominguez-Gonzalez,C, Díaz-Manera,J, Martí,C, García Arumi,E, Jimenez-Mallebrera,C, Martin,MA Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Hernández-Laín,A Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. Rivas,E Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. Hernández-Voth,A, Sayas Catalán,J Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. Fernández-Torrón,R Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain. Fuiza-Luces,C, Martin,MA Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital '12 de Octubre' ('i+12'), Madrid, Spain. García García,J Neurology Department, Hospital de Albacete, Albacete, Spain. Morís,G Neurology Department, Neuromuscular disorders Unit, Hospital Central de Asturias, Oviedo, Spain. Olivé,M Pathological Anatomy Department, Neuromuscular disorders unit, IDIBELL-Hospital de Bellvitge, Barcelona, Spain. Miralles,F Neurology department, Neuromuscular disorders unit, Hospital Universitari Son Espases, Palma, Spain. Díaz-Manera,J Neurology department, Neuromuscular disorders unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain. Caballero,C Respiratory Department, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, CIBERES, Universidad de Sevilla, Sevilla, Spain. Méndez-Ferrer,B Rehabilitation Department, Hospital Virgen del Rocio, Sevilla, Spain. Martí,R, Badosa,MC, Jimenez-Mallebrera,C Neuromuscular Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain. García Arumi,E Research group on Neuromuscular and Mitochondrial Diseases, Valld'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain. Hirano,M Department of Neurology, H. Houston Merritt Center, Columbia University Medical Center, New York, USA. Paradas,C Neurology Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. Paradas,C Biomedical Network Research Centre on Neurodegenerative Diseases (CIBERNED), Madrid, Spain., This work was supported by research grants of Plan Nacional de I + D + I and Instituto de Salud Carlos III (ISCIII), Subdirección General de Evaluación y Fomento de la Investigación Sanitaria”, project PI16–01843 (CP), PI16/00579 and CP09/00011 for CJM and the European Regional Development Fund (FEDER a way to achieve Europe). MAM has received funding from the Spanish ISCIII (grant PI 15/00431). A multicentric grant funded by the ISCIII (PMP15/00025 to MAM, RM, MO, CP).

مصطلحات موضوعية: TK2 deficiency, Mitochondrial myopathy, Multiple deletions, Timidina quinasa, Miopatías mitocondriales, Gene delention, Eliminación de gen, DNA, mitochondrial, ADN mitocondrial, Medical Subject Headings::Persons::Persons::Age Groups::Adolescent, Medical Subject Headings::Persons::Persons::Age Groups::Adult, Medical Subject Headings::Persons::Persons::Age Groups::Child, Medical Subject Headings::Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Circular::DNA, Medical Subject Headings::Check Tags::Female, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Medical Subject Headings::Check Tags::Male, Medical Subject Headings::Persons::Persons::Age Groups::Adult::Middle Aged, Medical Subject Headings::Diseases::Musculoskeletal Diseases::Muscular Diseases::Mitochondrial Myopathies, Medical Subject Headings::Anatomy::Musculoskeletal System::Muscles::Muscle, Skeletal, Medical Subject Headings::Diseases::Musculoskeletal Diseases::Muscular Diseases, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies::Retrospective Studies, Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Thymidine Kinase, Medical Subject Headings::Persons::Persons::Age Groups::Adult::Young Adult

وصف الملف: application/pdf

Relation: https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1071-z; Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, et al. Late-onset thymidine kinase 2 deficiency: a review of 18 cases. Orphanet J Rare Dis. 2019 May 6;14(1):100.; http://hdl.handle.net/10668/3171; PMC6501326

الاتاحة: http://hdl.handle.net/10668/3171
https://doi.org/10.1186/s13023-019-1071-z

المؤلفون: Alonso-Jimenez, Alicia, Kroon, Rosemarie H M J M, Alejaldre-Monforte, Aida, Nuñez-Peralta, Claudia, Horlings, Corinne G C, van Engelen, Baziel G M, Olivé, Montse, González, Laura, Verges-Gil, Enric, Paradas, Carmen, Márquez, Celedonio, Garibaldi, Matteo, Gallano, Pía, Rodriguez, Maria José, Gonzalez-Quereda, Lidia, Dominguez Gonzalez, Cristina, Vissing, John, Fornander, Freja, Eisum, Anne-Sofie Vibæk, García-Sobrino, Tania, Pardo, Julio, García-Figueiras, Roberto, Muelas, Nuria, Vilchez, Juan Jesús, Kapetanovic, Solange, Tasca, Giorgio, Monforte, Mauro, Ricci, Enzo, Gomez, María Teresa, Bevilacqua, Jorge Alfredo, Diaz-Jara, Jorge, Zamorano, Ivonne Ingrid, Carlier, Robert Yves, Laforet, Pascal, Pelayo-Negro, Ana, Ramos-Fransi, Alba, Martínez, Amaia, Marini-Bettolo, Chiara, Straub, Volker, Gutiérrez, Gerardo, Stojkovic, Tanya, Martín, María Asunción, Morís, Germán, Fernández-Torrón, Roberto, Lopez De Munaín, Adolfo, Cortes-Vicente, Elena, Querol, Luis, Rojas-García, Ricardo, Illa, Isabel, Diaz-Manera, Jordi

مصطلحات موضوعية: Neuromuscular

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/90/5/576; http://dx.doi.org/10.1136/jnnp-2018-319578

الاتاحة: http://jnnp.bmj.com/cgi/content/short/90/5/576
https://doi.org/10.1136/jnnp-2018-319578

المؤلفون: De la Casa-Fages, Beatriz, Fernández-Eulate, Gorka, Gamez, Josep, Barahona-Hernando, Raúl, Morís, Germán, García-Barcina, María, Infante, Jon, Zulaica, Miren, Fernández-Pelayo, Uxoa, Muñoz-Oreja, Mikel, Urtasun, Miguel, Olaskoaga, Ander, Zelaya, Victoria, Jericó, Ivonne, Saez-Villaverde, Raquel, Catalina, Irene, Sola Vendrell, Emma, Martínez-Sáez, Elena, Pujol, Aurora, Ruiz, Montserrat, Schlüter, Agatha, Spinazzola, Antonella, Muñoz-Blanco, Jose Luis, Holt, Ian, Álvarez, Victoria, López de Munaín, Adolfo, Grandas Pérez, Francisco Javier

مصطلحات موضوعية: hereditary spastic paraplegia, mitochondria, parkinsonism, pathogenic genetic variants, SPG7 gene, Neurociencias (Medicina), 3205.07 Neurología

Time: 61

وصف الملف: application/pdf

Relation: FIS-FEDER PI16_01673; FIS-FEDER PI19_00593; FIS-FEDER PI15/00878; Pl17/00380; Pl17/02007; ACCI14-759; 2017SGR1206; SLT002/16/00174; https://hdl.handle.net/20.500.14352/100492; De la Casa-Fages, B., Fernández-Eulate, G., Gamez, J., Barahona-Hernando, R., Morís, G., García-Barcina, M., Infante, J., Zulaica, M., Fernández-Pelayo, U., Muñoz-Oreja, M., Urtasun, M., Olaskoaga, A., Zelaya, V., Jericó, I., Saez-Villaverde, R., Catalina, I., Sola, E., Martínez-Sáez, E., Pujol, A., Ruiz, M., Schlüter, A., Spinazzola, A., Muñoz-Blanco, J.L., Grandas, F., Holt, I., Álvarez, V. and López de Munaín, A. (2019), Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism. Mov Disord, 34: 1547-1561. https://doi.org/10.1002/mds.27812; https://pubmed.ncbi.nlm.nih.gov/31433872/

الاتاحة: https://hdl.handle.net/20.500.14352/100492
https://doi.org/10.1002/mds.27812
https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.27812
https://pubmed.ncbi.nlm.nih.gov/31433872/

المؤلفون: Armangué, Thaís, Spatola, Marianna, Vlagea, Alexandru, Mattozzi, Simone, Cárceles-Cordón, Marc, Martinez-Heras, Eloy, Llufriu Duran, Sara, Muchart López, Jordi, Erro, María Elena, Abraira, Laura, Moris, German, Monros-Gimenez, Luis, Corral-Corral, Íñigo, Montejo, Carmen, Toledo, Manuel, Bataller, Luis, Secondi, Gabriela, Ariño Rodríguez, Helena, Martínez Hernández, Eugenia, Juan, Manel, Marcos, Ma. Angeles, Alsina, Laia, Saiz Hinarejos, Albert, Rosenfeld, Myrna R., Graus Ribas, Francesc, Dalmau Obrador, Josep, Spanish Herpes Simplex Encephalitis Study Group

المصدر: Articles publicats en revistes (Fonaments Clínics)

مصطلحات موضوعية: Encefalitis, Herpes, Autoimmunitat, Encephalitis, Herpesvirus diseases, Autoimmunity

وصف الملف: 29 p.; application/pdf

Relation: Versió postprint del document publicat a: https://doi.org/10.1016/S1474-4422(18)30244-8; The Lancet Neurology, 2018, vol. 17, num. 9, p. 760-772; https://doi.org/10.1016/S1474-4422(18)30244-8; http://hdl.handle.net/2445/147245; 682197; 3971804

الاتاحة: http://hdl.handle.net/2445/147245

المؤلفون: Moris, Germán, Arboleya, Silvia, Mancabelli, Leonardo, Milani, Christian, Ventura, Marco, González de los Reyes-Gavilán, Clara, Gueimonde Fernández, Miguel

المساهمون: Agencia Estatal de Investigación (España), Ministerio de Ciencia, Innovación y Universidades (España), Principado de Asturias, European Commission, Arboleya, Silvia, Mancabelli, Leonardo, Milani, Christian, Ventura, Marco, González de los Reyes-Gavilán, Clara 0000-0001-9396-631, Gueimonde Fernández, Miguel

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; AGL2017-83653R/AEI/10.13039/501100011033; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/AGL2017-83653R; Publisher's version; http://dx.doi.org/10.1038/s41598-018-32700-y; Sí; Scientific Reports 8: 14384 (2018); http://hdl.handle.net/10261/185959; http://dx.doi.org/10.13039/501100000780; http://dx.doi.org/10.13039/501100011033; http://dx.doi.org/10.13039/100011941

الاتاحة: http://hdl.handle.net/10261/185959
https://doi.org/10.1038/s41598-018-32700-y
https://doi.org/10.13039/501100000780
https://doi.org/10.13039/501100011033
https://doi.org/10.13039/100011941

المؤلفون: Figueroa-Bonaparte, Sebastian, Llauger, Jaume, Segovia, Sonia, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Montesinos, Paula, Sánchez-González, Javier, Alonso-Jiménez, Alicia, Gallardo, Eduard, Illa, Isabel, Barba-Romero, Miguel Angel, Barcena, Joseba, Carbonell, Pilar, Carzorla, María Rosario, Creus, Carlota, Coll-Cantí, Jaume, Díaz, Manuel, Domínguez, Cristina, Fernández-Torrón, Roberto, García-Antelo, María José, Grau, Josep Maria, López de Munáin, Adolfo, Martínez-García, Francisco Antonio, Morgado, Yolanda, Moreno, Antonio, Morís, Germán, Muñoz-Blanco, Miguel Angel, Nascimento, Andres, Parajua, José Luis, Robledo-Strauss, Arturo, Rojas-Marcos, Íñigo, Salazar, Jose António, Usón, Mercedes, Díaz-Manera, Jordi

المصدر: Scientific Reports ; volume 8, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-018-29170-7
https://www.nature.com/articles/s41598-018-29170-7.pdf
https://www.nature.com/articles/s41598-018-29170-7