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R

Roberto Fernández-Torrón

Biodonostia Health Research Institute and UPV and EHU
H指数:32
被引数:2,774

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Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

靶向血浆蛋白质组学揭示了与KIF5A相关的SPG10和ALS谱系障碍相关的蛋白质

Human Genetics and Genomics Advances
IF3.6
2025-08-270
OAAI
Jarosław Dulski; Arun K. Boddapati; Barbara Risi; Pablo Iruzubieta; Antonio Orlacchio; Roberto Fernández-Torrón; Tamara Castillo-Triviño; Adolfo López de Munain; Steve Vucic; Alessandro Padovani; Laura Donker Kaat; Tahsin Stefan Barakat; Leonard Petrucelli; Mercedes Prudencio; John E. Landers; Jochen H. Weishaupt; Andreas Prokop; Massimiliano Filosto; Zbigniew K. Wszolek; Devesh C. Pant
Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related

尿液中作为生物标志物确定的肌联蛋白N末端片段，在一小群与LGMDR1（钙蛋白酶3相关）肢带型肌营养不良症患者中的研究。

JOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
2025-05-130
PRE
Andrea Valls; Cristina Ruiz-Roldán; Jenita Immanuel; Pilar Camaño; Juan José Poza; Roberto Fernández-Torrón; Adolfo López de Munain; Amets Sáenz
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy

整合素β1D错位在Calpain 3相关 limb-girdle 肌营养不良病理生理学中的作用

CELLS
IF5.2
2025-03-170
OA
Valls, Andrea; Ruiz-Roldan, Cristina; Immanuel, Jenita; Alonso-Martin, Sonia; Gallardo, Eduard; Fernandez-Torron, Roberto; Bonilla, Mario; Lersundi, Ana; Hernandez-Lain, Aurelio; Dominguez-Gonzalez, Cristina; Vilchez, Juan Jesus; Iruzubieta, Pablo; de Munain, Adolfo Lopez; Saenz, Amets
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis
ACTA NEUROPATHOLOGICA
IF9.3
2024-09-161
OAAI
Zufiria, Monica; Pikatza-Menoio, Oihane; Garciandia-Arcelus, Maddi; Bengoetxea, Xabier; Jimenez, Andres; Elicegui, Amaia; Levchuk, Maria; Arnold-Garcia, Olatz; Ondaro, Jon; Iruzubieta, Pablo; Rodriguez-Gomez, Laura; Fernandez-Pelayo, Uxoa; Munoz-Oreja, Mikel; Aiastui, Ana; Garcia-Verdugo, Jose Manuel; Herranz-Perez, Vicente; Zulaica, Miren; Poza, Juan Jose; Ruiz-Onandi, Rebeca; Fernandez-Torron, Roberto; Espinal, Juan Bautista; Bonilla, Mario; Lersundi, Ana; Fernandez-Eulate, Gorka; Riancho, Javier; Vallejo-Illarramendi, Ainara; Holt, Ian James; Saenz, Amets; Malfatti, Edoardo; Duguez, Stephanie; Blazquez, Lorea; Lopez de Munain, Adolfo; Gerenu, Gorka; Gil-Bea, Francisco; Alonso-Martin, Sonia
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
BRAIN
IF11.7
2024-02-152
OAAI
Iruzubieta, Pablo; Damborenea, Alberto; Ioghen, Mihaela; Bajew, Simon; Fernandez-Torron, Roberto; Topf, Ana; Herrero-Reiriz, Alvaro; Epure, Diana; Vill, Katharina; Hernandez-Lain, Aurelio; Manterola, Maria; Azkargorta, Mikel; Pikatza-Menoio, Oihane; Perez-Fernandez, Laura; Garcia-Puga, Mikel; Gaina, Gisela; Bastian, Alexandra; Streata, Ioana; Walter, Maggie C.; Muller-Felber, Wolfgang; Thiele, Simone; Moragon, Saioa; Bastida-Lertxundi, Nerea; Lopez-Cortajarena, Aitziber; Elortza, Felix; Gerenu, Gorka; Alonso-Martin, Sonia; Straub, Volker; de Sancho, David; Teleanu, Raluca; de Munain, Adolfo Lopez; Blazquez, Lorea
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy (vol 143, pg 2696, 2020)
BRAIN
IF11.7
2022-11-030
OA
Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andres; Ortez, Carlos; Pietro Comi, Giacomo; ten Dam, Leroy; De Visser, Marianne; van der Kooi, A. J.; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuss, Andrea; Lokken, Nicoline; Storgaard, Jesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonso-Jimenez, Alicia; Claeys, Kristl G.; Gomez-Andres, David; Munell, Francina; Costa-Comellas, Laura; Haberlova, Jana; Rohlenova, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-Gonzalez, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernandez-Torron, Roberto; Lopez de Munain, Adolfo; Camacho-Salas, Ana; Melegh, Bela; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; Carlos de Leon-Hernandez, Juan; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel; Diaz-Manera, Jordi
Senescence plays a role in myotonic dystrophy type 1 br
JCI INSIGHT
IF6.1
2022-10-1010
OA
Garcia-Puga, Mikel; Saenz-Antonanzas, Ander; Gerenu, Gorka; Arrieta-Legorburu, Alex; Fernandez-Torron, Roberto; Zulaica, Miren; Saenz, Amets; Elizazu, Joseba; Nogales-Gadea, Gisela; Gadalla, Shahinaz M.; Arauzo-Bravo, Marcos J.; Lopez de Munain, Adolfo; Matheu, Ander
Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)
CELLS
IF5.2
2022-09-272
OAAI
Alegre-Cortes, Eva; Gimenez-Bejarano, Alberto; Uribe-Carretero, Elisabet; Paredes-Barquero, Marta; Marques, Andre R. A.; Lopes-da-Silva, Mafalda; Vieira, Otilia V.; Canales-Cortes, Saray; Camello, Pedro J.; Martinez-Chacon, Guadalupe; Aiastui, Ana; Fernandez-Torron, Roberto; Lopez de Munain, Adolfo; Gomez-Suaga, Patricia; Niso-Santano, Mireia; Gonzalez-Polo, Rosa A.; Fuentes, Jose M.; Yakhine-Diop, Sokhna M. S.
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
IF9.1
2022-04-0316
OA
Reyngoudt, Harmen; Smith, Fiona E.; Araujo, Ericky Caldas de Almeida; Wilson, Ian; Fernandez-Torron, Roberto; James, Meredith K.; Moore, Ursula R.; Diaz-Manera, Jordi; Marty, Benjamin; Azzabou, Noura; Gordish, Heather; Rufibach, Laura; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Boisserie, Jean-Marc; Le Louer, Julien; Hilsden, Heather; Sutherland, Helen; Canal, Aurelie; Hogrel, Jean-Yves; Jacobs, Marni; Stojkovic, Tanya; Bushby, Kate; Mayhew, Anna; Straub, Volker; Carlier, Pierre G.; Blamire, Andrew M.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
BRAIN
IF11.7
2020-09-0147
OAAI
Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andres; Ortez, Carlos; Comi, Giacomo Pietro; ten Dam, Leroy; De Visser, Marianne; van der Kooi, A. J.; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuss, Andrea; Lokken, Nicoline; Storgaard, Glesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonsolimenez, Alicia; Claeys, Kristl G.; Gomez-Andres, David; Munell, Francina; Costa-Comellas, Laura; Haberlova, Jana; Rohlenova, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-Gonzalez, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernandez-Torron, Roberto; de Munain, Adolfo Lopez; Camacho-Salas, Ana; Melegh, Bela; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; De Leon-Hernandez, Juan Carlos; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel; Diaz-Manera, Jordi
Clinical and therapeutic features of myasthenia gravis in adults based on age at onset
NEUROLOGY
IF8.5
2020-03-1791
OAAI
Cortes-Vicente, Elena; Alvarez-Velasco, Rodrigo; Segovia, Sonia; Paradas, Carmen; Casasnovas, Carlos; Guerrero-Sola, Antonio; Pardo, Julio; Ramos-Fransi, Alba; Sevilla, Teresa; Lopez de Munain, Adolfo; Teresa Gomez, Maria; Jerico, Ivonne; Gutierrez-Gutierrez, Gerardo; Lara Pelayo-Negro, Ana; Asuncion Martin, Maria; Dolores Mendoza, Maria; Moris, German; Rojas-Garcia, Ricard; Diaz-Manera, Jordi; Querol, Luis; Gallardo, Eduard; Velez, Beatriz; Antonia Alberti, Maria; Galan, Lucia; Garcia-Sobrino, Tania; Martinez-Pineiro, Alicia; Lozano-Veintimilla, Ana; Fernandez-Torron, Roberto; Cano-Abascal, Angel; Illa, Isabel
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
BRAIN
IF11.7
2020-02-0820
OAAI
Molenaar, Joery P.; Verhoeven, Jamie I.; Rodenburg, Richard J.; Kamsteeg, Erik J.; Erasmus, Corrie E.; Vicart, Savine; Behin, Anthony; Bassez, Guillaume; Magot, Armelle; Pereon, Yann; Brandom, Barbara W.; Guglielmi, Valeria; Vattemi, Gaetano; Chevessier, Frederic; Mathieu, Jean; Franques, Jerome; Suetterlin, Karen; Hanna, Michael G.; Guyant-Marechal, Lucie; Snoeck, Marc M.; Roberts, Mark E.; Kuntzer, Thierry; Fernandez-Torron, Roberto; Martinez-Arroyo, Amaia; Seeger, Juergen; Kusters, Benno; Treves, Susan; van Engelen, Baziel G.; Eymard, Bruno; Voermans, Nicol C.; Sternberg, Damien
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT
MOLECULAR GENETICS AND METABOLISM
IF3.5
2019-09-018
PREAI
Fernandez-Simon, Esther; Carrasco-Rozas, Ana; Gallardo, Eduard; Gonzalez-Quereda, Lidia; Alonso-Perez, Jorge; Belmonte, Izaskun; Pedrosa-Hernandez, Irene; Montiel, Elena; Segovia, Sonia; Suarez-Calvet, Xavier; Llauger, Jaume; Mayos, Mercedes; Illa, Isabel; Angel Barba-Romero, Miguel; Barcena, Joseba; Paradas, Carmen; Rosario Carzorla, Maria; Creus, Carlota; Coll-Canti, Jaume; Diaz, Manuel; Dominguez, Cristina; Fernandez-Torron, Roberto; Jose Garcia-Antelo, Maria; Maria Grau, Josep; Lopez de Munain, Adolfo; Antonio Martinez-Garcia, Francisco; Morgado, Yolanda; Moreno, Antonio; Moris, German; Angel Munoz-Blanco, Miguel; Nascimento, Andres; Luis Parajua-Pozo, Jose; Querol, Luis; Rojas, Ricard; Robledo-Strauss, Arturo; Rojas-Marcos, Inigo; Antonio Salazar, Jose; Uson, Mercedes; Diaz-Manera, Jordi
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2019-05-0634
OAAI
Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Rivas, Eloy; Hernandez-Voth, Ana; Catalan, Javier Sayas; Fernandez-Torron, Roberto; Fuiza-Luces, Carmen; Garcia Garcia, Jorge; Moris, German; Olive, Montse; Miralles, Frances; Diaz-Manera, Jordi; Caballero, Candela; Mendez-Ferrer, Bosco; Marti, Ramon; Garcia Arumi, Elena; Carmen Badosa, Maria; Esteban, Jesus; Jimenez-Mallebrera, Cecilia; Blazquez Encinar, Alberto; Arenas, Joaquin; Hirano, Michio; Angel Martin, Miguel; Paradas, Carmen
PDGF-BB serum levels are decreased in adult onset Pompe patients
SCIENTIFIC REPORTS
IF3.9
2019-02-147
OAAI
Fernandez-Simon, Esther; Carrasco-Rozas, Ana; Gallardo, Eduard; Figueroa-Bonaparte, Sebastian; Belmonte, Izaskun; Pedrosa, Irene; Montiel, Elena; Suarez-Calvet, Xavier; Alonso-Perez, Jorge; Segovia, Sonia; Nunez-Peralta, Claudia; Llauger, Jaume; Mayos, Mercedes; Illa, Isabel; Diaz-Manera, Jordi; Angel Barba-Romero, Miguel; Barcena, Joseba; Rosario Carzorla, Maria; Creus, Carlota; Coll-Canti, Jaume; de Luna, Noemi; Diaz, Manuel; Dominguez, Cristina; Fernandez-Torron, Roberto; Jose Garcia-Antelo, Maria; Maria Grau, Josep; Teresa Gomez-Caravaca, Maria; Carlos Leon-Hernandez, Juan; Lopez de Munain, Adolfo; Antonio Martinez-Garcia, Francisco; Morgado, Yolanda; Moreno, Antonio; Moris, German; Angel Munoz-Blanco, Miguel; Nascimento, Andres; Paradas, Carmen; Luis Parajua-Pozo, Jose; Querol, Luis; Robledo-Strauss, Arturo; Rojas-Garcia, Ricard; Rojas-Marcos, Inigo; Antonio Salazar, Jose; Uson, Mercedes

研究方向

暂未获取到该数据
A
Adolfo López de Munaín
H 指数:60论文数:504被引数:1.6万
V
Volker Straub
H 指数:101论文数:962被引数:3.4万
C
Carmen Paradas
H 指数:28论文数:162被引数:2,589
T
Tanya Stojkovic
H 指数:59论文数:446被引数:1.1万
J
Jordi Díaz‐Manera
H 指数:51论文数:500被引数:1.0万
C
Cristina Domínguez‐González
H 指数:27论文数:178被引数:2,556
M
Mikel García-Puga
H 指数:10论文数:34被引数:542
I
Isabel Illa
H 指数:75论文数:324被引数:2.2万
E
Elena Pegoraro
H 指数:73论文数:490被引数:1.5万
A
Anna Mayhew
H 指数:37论文数:159被引数:5,230