Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
Scoto, Mariacristina, Rossor, Alexander M, Harms, Matthew B, Cirak, Sebahattin, Calissano, Mattia, Robb, Stephanie, Manzur, Adnan Y, Martínez Arroyo, Amaia, Rodriguez Sanz, Aida, Mansour, Sahar, Fallon, Penny, Hadjikoumi, Irene, Klein, Andrea, Yang, Michele, De Visser, Marianne, Overweg-Plandsoen, W C G Truus, Baas, Frank, Taylor, J Paul, Benatar, Michael, Connolly, Anne M, Al-Lozi, Muhammad T, Nixon, John, de Goede, Christian G E L, Foley, A Reghan, Mcwilliam, Catherine, Pitt, Matthew, Sewry, Caroline, Phadke, Rahul, Hafezparast, Majid, Chong, W K Kling, Mercuri, Eugenio, Baloh, Robert H, Reilly, Mary M, Muntoni, Francesco
Published in Neurology (17.02.2015)
Published in Neurology (17.02.2015)
Get more information
Journal Article
Acute management of a stroke-like episode in MELAS syndrome: What should we know?
González-Pinto González, Tirso, Almeida Velasco, Javier, Moreno Estébanez, Ana, Agirre Beitia, Garazi, Cabral Martínez, Laura, Díaz Cuervo, Irene, Martínez Arroyo, Amaia
Published in eNeurologicalSci (01.09.2020)
Published in eNeurologicalSci (01.09.2020)
Get full text
Journal Article
Alteraciones reversibles en los núcleos dentados y atrofia cerebral de rápida instauración debido a neurotoxicidad por litio
Pardina Vilella, Laura, García Gorostiaga, Inés, Azkune Calle, Itxaso, Vicente Olabarría, Iñigo, Martínez Arroyo, Amaia, Bocos Portillo, Jone, Gómez Beldarrain, Marian, García Moncó, Juan Carlos
Published in Revista de neurologiá (01.09.2017)
Published in Revista de neurologiá (01.09.2017)
Get full text
Journal Article
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Molenaar, Joery P, Verhoeven, Jamie I, Rodenburg, Richard J, Kamsteeg, Erik J, Erasmus, Corrie E, Vicart, Savine, Behin, Anthony, Bassez, Guillaume, Magot, Armelle, Péréon, Yann, Brandom, Barbara W, Guglielmi, Valeria, Vattemi, Gaetano, Chevessier, Frédéric, Mathieu, Jean, Franques, Jérôme, Suetterlin, Karen, Hanna, Michael G, Guyant-Marechal, Lucie, Snoeck, Marc M, Roberts, Mark E, Kuntzer, Thierry, Fernandez-Torron, Roberto, Martínez-Arroyo, Amaia, Seeger, Juergen, Kusters, Benno, Treves, Susan, van Engelen, Baziel G, Eymard, Bruno, Voermans, Nicol C, Sternberg, Damien
Published in Brain (London, England : 1878) (01.02.2020)
Published in Brain (London, England : 1878) (01.02.2020)
Get full text
Journal Article
The goblet sign in the amnestic syndrome of the subcallosal artery infarct
Pardina-Vilella, Lara, Pinedo-Brochado, Ana, Vicente, Iñigo, Bocos-Portillo, Jone, Martínez-Arroyo, Amaia, Ontañon, Jose Maria, Gómez-Beldarrain, Marian, García-Moncó, Juan Carlos
Published in Neurological sciences (01.08.2018)
Published in Neurological sciences (01.08.2018)
Get full text
Journal Article
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R, England, Eleina M, Laricchia, Kristen M, Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B, Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G, Straub, Volker
Published in Genetics in medicine (01.09.2020)
Published in Genetics in medicine (01.09.2020)
Get full text
Journal Article
Mutations in MME gene causing distal hereditary motor neuropathy and MCI-AD
Toca, Adriana Barquín, Arroyo, Amaia Martínez, Sainz, Aida Rodríguez, Martínez, Javier Arranz, Zárraga, Irene Sustatxa, Calle, Itxaso Azkune, Portillo, Jone Bocos, Picon, Silvia Vázquez, Catalli, Claudio, Gómez-Beldarrain, Maria Ángeles
Published in Journal of the neurological sciences (01.10.2021)
Published in Journal of the neurological sciences (01.10.2021)
Get full text
Journal Article
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., England, Eleina M., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Akay, Ela, Alonso-Pérez, Jorge, Baets, Jonathan, Barisic, Nina, Bastian, Alexandra, Borell, Sabine, Chamova, Teodora, Claeys, Kristl, Colomer, Jaume, Coppens, Sandra, Deconinck, Nicolas, de Ridder, Willem, Díaz-Manera, Jordi, Domínguez-González, Cristina, Duncan, Alexis, Durmus, Hacer, Fahmy, Nagia A., Farrugia, Maria Elena, Fernández-Torrón, Roberto, Gonzalez-Quereda, Lidia, Haberlova, Jana, von der Hagen, Maja, Hahn, Andreas, Jakovčević, Antonia, Jerico Pascual, Ivonne, Kapetanovic, Solange, Kenina, Viktorija, Kirschner, Janbernd, Klein, Andrea, Kölbel, Heike, Kostera-Pruszczyk, Anna, Kulshrestha, Richa, Lähdetie, Jaana, Layegh, Mahsa, Longman, Cheryl, López de Munain, Adolfo, Loscher, Wolfgang, Lusakowska, Anna, Maddison, Paul, Magot, Armelle, Majumdar, Anirban, Martí, Pilar, Martínez Arroyo, Amaia, Mazanec, Radim, Mercier, Sandra, Mongini, Tiziana, Muelas, Nuria, Nascimento, Andrés, Nafissi, Shahriar, Omidi, Shirin, Ortez, Carlos, Paquay, Stéphanie, Pereon, Yann, Perić, Stojan, Ponzalino, Valentina, Rakočević Stojanović, Vidosava, Remiche, Gauthier, Rodríguez Sainz, Aida, Rudnik, Sabine, Sanchez Albisua, Iciar, Santos, Manuela, Schara, Ulrike, Shatillo, Andriy, Sertić, Jadranka, Stephani, Ulrich, Strang-Karlsson, Sonja, Sznajer, Yves, Tanev, Ani, Tournev, Ivailo, Van den Bergh, Peter, Van Parijs, Vinciane, Vílchez, Juan, Vill, Katharina, Vissing, John, Wallgren-Pettersson, Carina, Wanschitz, Julia, Willis, Tracey, Witting, Nanna, Zulaica, Miren, Straub, Volker
Published in Genetics in medicine (01.09.2020)
Published in Genetics in medicine (01.09.2020)
Get full text
Journal Article
Reversible alterations in the dentate nuclei and rapid-onset cerebral atrophy due to neurotoxicity caused by lithium
Pardina-Vilella, L, Garcia-Gorostiaga, I, Azkune-Calle, I, Vicente-Olabarria, I, Martinez-Arroyo, A, Bocos-Portillo, J, Gomez-Beldarrain, M, Garcia-Monco, J C
Published in Revista de neurologiá (01.09.2017)
Published in Revista de neurologiá (01.09.2017)
Get full text
Journal Article
A 69-year-old woman with a "sweet" cause of instability
Bocos-Portillo, Jone, Ruisanchez, Aintzine, Vazquez-Picon, Rakel, Martinez-Arroyo, Amaia, Pinedo-Brochado, Ana, Gomez-Beldarrain, Marian, Garcia-Monco, Juan Carlos
Published in Neurology. Clinical practice (01.08.2015)
Published in Neurology. Clinical practice (01.08.2015)
Get full text
Journal Article