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Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.164-177
- Ferreira, Carlos R.
- Rahman, Shamima
- Keller, Markus
- Zschocke, Johannes
- Abdenur, Jose
- Ali, Houda
- Artuch, Rafael
- Ballabio, Andrea
- Barshop, Bruce
- Baumgartner, Matthias
- Bertini, Enrico Silvio
- Blau, Nenad
- Carelli, Valerio
- Carroll, Christopher
- Chinnery, Patrick F.
- Christodoulou, John
- Cornejo, Veronica
- Darin, Niklas
- Derks, Terry
- Diodato, Daria
- Dionisi‐Vici, Carlo
- Duley, John A.
- Fukao, † Toshi
- García‐Cazorla, Ángeles
- Giugliani, Roberto
- Goldstein, Amy
- Hoffmann, Georg
- Horvath, Rita
- Ibarra, Isabel
- Inwood, Anita
- Jaeken, Jaak
- Jimenez‐Mallebrera, Cecilia
- Karaa, Amel
- Klopstock, Thomas
- Kölker, Stefan
- Kornblum, Cornelia
- Kožich, Viktor
- Lamperti, Costanza
- Larsson, Nils‐Göran
- Lemes, Aida
- Lewis, Barry
- Mancuso, Michelangelo
- McFarland, Robert
- Mochel, Fanny
- Montoya, Julio
- Morava, Eva
- Naess, Karin
- Okuyama, Torayuki
- Olry, Annie
- Paquis‐Flucklinger, Veronique
- Parikh, Sumit
- Patterson, Marc
- Pérez de Ferrán, Ceila
- Peters, Verena
- Prokisch, Holger
- Saada, Ann
- Salomons, Gajja S.
- Saudubray, Jean‐Marie
- Scarpa, Maurizio
- Schara‐Schmidt, Ulrike
- Schiff, Manuel
- Servidei, Serenella
- Smeitink, Jan
- Suomalainen, Anu
- Tangeraas, Trine
- Taylor, Robert W.
- Thiele, Ines
- Thorburn, David
- Hove, Johan
- der Ploeg, Ans T.
- Karnebeek, Clara
- Visser, Gepke
- Vockley, Jerry
- Wanders, Ronald
- Webster, Dianne
- Wedell, Anna
- Wiley, Veronica
- Wredenberg, Anna
- Zeviani, Massimo
2021
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Nucleic acids research, 2021-01, Vol.49 (D1), p.D1130
- Peña-Chilet, María
- Roldán, Gema
- Perez-Florido, Javier
- Ortuño, Francisco M
- Carmona, Rosario
- Aquino, Virginia
- Lopez-Lopez, Daniel
- Loucera, Carlos
- Fernandez-Rueda, Jose L
- Gallego, Asunción
- García-Garcia, Francisco
- González-Neira, Anna
- Pita, Guillermo
- Núñez-Torres, Rocío
- Santoyo-López, Javier
- Ayuso, Carmen
- Minguez, Pablo
- Avila-Fernandez, Almudena
- Corton, Marta
- Moreno-Pelayo, Miguel Ángel
- Morin, Matías
- Gallego-Martinez, Alvaro
- Lopez-Escamez, Jose A
- Borrego, Salud
- Antiñolo, Guillermo
- Amigo, Jorge
- Salgado-Garrido, Josefa
- Pasalodos-Sanchez, Sara
- Morte, Beatriz
- Carracedo, Ángel
- Alonso, Ángel
- Dopazo, Joaquín
2021
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Neuromuscular disorders : NMD, 2017-12, Vol.27 (12), p.1126-1137
- Mancuso, Michelangelo
- McFarland, Robert
- Klopstock, Thomas
- Hirano, Michio
- Artuch, Rafael
- Bertini, Enrico
- Bindoff, Laurence
- Carelli, Valerio
- Gorman, Grainne
- Horvath, Rita
- Kaufmann, Petra
- Koga, Yasutoshi
- Koene, Saskia
- Lamperti, Costanza
- Montoya, Julio
- Javier Pérez-Mínguez Caneda, Francisco
- Procaccio, Vincent
- Prokisch, Holger
- Rahman, Shamima
- Santantonio, Piero
- Schülke, Markus
- Servidei, Serenella
- Shungu, Dikoma C.
- Siciliano, Gabriele
- Smeitink, Jan
- Taivassalo, Tanja
- Thompson, John L.P.
- Turnbull, Doug
- Van der Veer, Elja
- Yeske, Philip E.
- Zeviani, Massimo
2017
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Orphanet journal of rare diseases, 2017-09, Vol.12 (1), p.155-155, Article 155
2017
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Parkinsonism & related disorders, 2022-01, Vol.94, p.67-78
- Fernández-Ramos, Joaquín A.
- De la Torre-Aguilar, María José
- Quintáns, Beatriz
- Pérez-Navero, Juan Luis
- Beyer, Katrin
- López-Laso, Eduardo
- Ochoa Sepúlveda, J.J.
- Serrano Cárdenas, J.
- Sobrido Gómez, M.J.
- Mora, M.D.
- Moreno-Medinilla, E.
- Ramos, J.
- Llorente, M.
- Teva, M.D.
- Castaño-de la Mota, C.
- Martínez-Ruiz, J.
- González Gutierrez-Solana, L.
- Martí, M.J.
- Gómez-Esteban, J.C.
- Hernandez-Vara, J.
- García Cazorla, Á.
- Artuch, R.
- Adarmes, A.
- Mir, P.
2022
Link zum Volltext
The Journal of molecular diagnostics : JMD, 2020-09, Vol.22 (9), p.1205-1215
- Matalonga, Leslie
- Laurie, Steven
- Papakonstantinou, Anastasios
- Piscia, Davide
- Mereu, Elisabetta
- Bullich, Gemma
- Thompson, Rachel
- Horvath, Rita
- Pérez-Jurado, Luis
- Riess, Olaf
- Gut, Ivo
- van Ommen, Gert-Jan
- Lochmüller, Hanns
- Beltran, Sergi
- Renieri, Alessandra
- Dursun, Ali
- Matilla-Duenas, Antoni
- Cormand, Bru
- Rivolta, Carlo
- Ayuso, Carmen
- Espinós, Carmen
- Scerri, Christian
- Yalnizoglu, Dilek
- Soler, Doriette
- Morava, Eva
- Barbetti, Fabrizio
- Forzano, Francesca
- Mari, Francesca
- Muntoni, Francesco
- Tort, Frederic
- Houlden, Henry James
- Tejada, Maria-Isabel
- Senderek, Jan
- Benitez, Javier
- De La Calle, Javier Corral
- Serra, Jordi
- Millán, José Ma
- Segovia, Jose
- Gimeno Blanes, Juan Ramon
- Armstrong, Judith
- Ozgul, Koksal
- Vilarinho, Laura
- Montoliu, Lluis
- Posada, Manuel
- Mencarelli, Maria Antonietta
- Mora, Marina
- Bianchi, Paola
- Seeman, Pavel
- Elliott, Perry M.
- Ferlini, Alessandra
- Brice, Alexis
- Wirth, Brunhilde
- Hanna, Mike
- Tabrizi, Sarah
- Klockgether, Thomas
- Timmerman, Vincent
- Straub, Volker
- Kurul, Semra Hiz
- Oktay, Yavuz
- Gungor, Serdal
- Yaramis, Ahmet
- Yis, Uluc
- Macaya, Alfons
- Ribes, Antonia
- Pujol, Aurora
- Lázaro, Conxi
- Grinberg, Daniel
- Tizzano, Eduardo
- Cardellach, Francesc
- Palau, Francesc
- Milà, Montse
- Gallano, Pia
- Artuch, Rafael
- MartiSeves, Ramon
- Villanueva, Gonzalo
- Vidal, Silvia
- Garrabou, Gloria
- Balcells, Susanna
- Urreizti, Roser
- López, Estrella
- Cuscó, Ivon
- Valenzuela, Irene
- Sabater, Maria
2020
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Human genomics, 2023-03, Vol.17 (1), p.20-20, Article 20
2023
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Journal of inherited metabolic disease, 2019-07, Vol.42 (4), p.655-672
2019
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Analytical and bioanalytical chemistry, 1939-07, Vol.117 (7-8), p.274-276
1939
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Orphanet journal of rare diseases, 2018-01, Vol.13 (1), p.28-28, Article 28
2018
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PloS one, 2016-05, Vol.11 (5), p.e0156359-e0156359
2016
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Scientific reports, 2020-10, Vol.10 (1), p.18291-18291, Article 18291
- Molero-Luis, Marta
- Casas-Alba, Didac
- Orellana, Gabriela
- Ormazabal, Aida
- Sierra, Cristina
- Oliva, Clara
- Valls, Anna
- Velasco, Jesus
- Launes, Cristian
- Cuadras, Daniel
- Pérez-Dueñas, Belén
- Jordan, Iolanda
- Cambra, Francisco J
- Ortigoza-Escobar, Juan D
- Muñoz-Almagro, Carmen
- Garcia-Cazorla, Angels
- Armangué, Thais
- Artuch, Rafael
2020
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Frontiers in psychology, 2017-04, Vol.8, p.612-612
2017
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Frontiers in psychology, 2021-06, Vol.12, p.626340-626340
2021
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Nature communications, 2024-04, Vol.15 (1), p.2986-2986, Article 2986
2024
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Frontiers in psychology, 2020-01, Vol.11, p.22-22
2020
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Neurobiology of disease, 2021-08, Vol.156, p.105405-105405, Article 105405
2021
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Metabolomics, 2018-06, Vol.14 (6), p.76-12, Article 76
2018
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Frontiers in psychology, 2022-05, Vol.13, p.856558-856558
2022
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PLoS biology, 2021-05, Vol.19 (5), p.e3001252-e3001252
2021
Link zum Volltext
BMC genomics, 2014-02, Vol.15 (1), p.91-91, Article 91
- 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, Ester
- Ruiz-Pesini, Eduardo
- Artuch, Rafael
- Montero, Raquel
- Torner, Ferran
- Nascimento, Andres
- Ortez, Carlos
- Colomer, Jaume
- Jimenez-Mallebrera, Cecilia
2014
Link zum Volltext
Nature protocols, 2017-11, Vol.12 (11), p.2359-2366
2017
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Euskera ikerketa aldizkaria, 2019-07, Vol.2 (63), p.393-417
2019
Link zum Volltext
Annals of neurology, 2017-09, Vol.82 (3), p.317-330
- Ortigoza‐Escobar, Juan Darío
- Alfadhel, Majid
- Molero‐Luis, Marta
- Darin, Niklas
- Spiegel, Ronen
- de Coo, Irenaeus F.
- Gerards, Mike
- Taylor, Robert W.
- Artuch, Rafael
- Nashabat, Marwan
- Rodríguez‐Pombo, Pilar
- Tabarki, Brahim
- Pérez‐Dueñas, Belén
- Distelmaier, Felix
- Hahn, Andreas
- Morava, Eva
- Banka, Siddharth
- Debs, Rabab
- Fraser, Jamie L.
- Isohanni, Pirjo
- Lähdesmäki, Tuire
- Livingston, John
- Nadjar, Yann
- Schuler, Elisabeth
- Uusimaa, Johanna
- Vanderver, Adeline
- Friedman, Jennifer R.
- Zimbric, Michael R.
- McFarland, Robert
- Santra, Saikat
- Wassmer, Evangeline
- Martí‐Sanchez, Laura
- Darling, Alejandra
2017
Link zum Volltext
Frontiers in psychology, 2017-06, Vol.8, p.1039-1039
2017
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