Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant
Llauradó, Arnau, Gratacòs‐Viñola, Margarida, Rovira‐Moreno, Eulàlia, Codina‐Solà, Marta, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, Raguer, Núria, Garcia‐Arumi, Elena, Juntas‐Morales, Raul
Published in Muscle & nerve (01.06.2023)
Published in Muscle & nerve (01.06.2023)
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Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene
Llauradó, Arnau, Rovira‐Moreno, Eulalia, Codina‐Solà, Marta, Martínez‐Saez, Elena, Salvadó, Maria, Sanchez‐Tejerina, Daniel, Sotoca, Javier, López‐Diego, Verónica, Restrepo‐Vera, Juan Luis, Garcia‐Arumi, Elena, Juntas‐Morales, Raul
Published in Clinical genetics (01.04.2023)
Published in Clinical genetics (01.04.2023)
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Biofluid Biomarkers in the Prognosis of Amyotrophic Lateral Sclerosis: Recent Developments and Therapeutic Applications
Sanchez-Tejerina, Daniel, Llaurado, Arnau, Sotoca, Javier, Lopez-Diego, Veronica, Vidal Taboada, Jose M, Salvado, Maria, Juntas-Morales, Raul
Published in Cells (Basel, Switzerland) (01.04.2023)
Published in Cells (Basel, Switzerland) (01.04.2023)
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Generalized myoclonus in COVID-19
Rábano-Suárez, Pablo, Bermejo-Guerrero, Laura, Méndez-Guerrero, Antonio, Parra-Serrano, Javier, Toledo-Alfocea, Daniel, Sánchez-Tejerina, Daniel, Santos-Fernández, Teresa, Folgueira-López, María Dolores, Gutiérrez-Gutiérrez, Judit, Ayuso-García, Blanca, González de la Aleja, Jesús, Benito-León, Julián
Published in Neurology (11.08.2020)
Published in Neurology (11.08.2020)
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Immunological, Clinical, and Epidemiological Features of Guillain-Barré Syndrome Associated with SARS-CoV-2 Infection
Restrepo-Vera, Juan Luis, Llauradó, Arnau, Palasí, Antoni, González-Martínez, Victoria, Gratacòs, Margarida, Salvadó, Maria, Sánchez-Tejerina, Daniel, Sotoca, Javier, Raguer, Núria, Juntas-Morales, Raul
Published in Acta neurologica Scandinavica (07.02.2023)
Published in Acta neurologica Scandinavica (07.02.2023)
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RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit
Sánchez-Tejerina, Daniel, Alvarez, Paula Fernandez, Laínez, Elena, Martinez, Victoria Gonzalez, Santa-Cruz, Daniela Isabel, Verdaguer, Lena, Gratacòs, Margarida, Seoane, Jose Luis, Raguer, Núria, Hernández-Vara, Jorge, Llauradó, Arnau, Sotoca, Javier, Salvado, Maria, Arumi, Elena Garcia, Tizzano, Eduardo F., Juntas, Raúl
Published in Journal of the neurological sciences (15.03.2023)
Published in Journal of the neurological sciences (15.03.2023)
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Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease
Restrepo-Vera, Juan Luis, Muñoz-Cabello, Patricia, Pérez-Rodon, Jordi, Rovira-Moreno, Eulàlia, Codina-Solà, Marta, Llauradó, Arnau, Salvadó, Maria, Sánchez-Tejerina, Daniel, Sotoca, Javier, Martínez-Sáez, Elena, García-Arumí, Elena, Juntas-Morales, Raul
Published in Neuromuscular disorders : NMD (01.06.2023)
Published in Neuromuscular disorders : NMD (01.06.2023)
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Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern
Restrepo-Vera, Juan Luis, Rovira-Moreno, Eulàlia, Ramón, Javier, Codina-Sola, Marta, Llauradó, Arnau, Salvadó, Maria, Sánchez-Tejerina, Daniel, Sotoca, Javier, Martínez-Sáez, Elena, Martí, Ramon, García-Arumí, Elena, Juntas-Morales, Raul
Published in Journal of human genetics (01.08.2023)
Published in Journal of human genetics (01.08.2023)
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Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation does not Explain the Phenotype
Sánchez-Tejerina, Daniel, Oliveira, Luísa Panadés-de, Martín, Miguel A, Álvarez-Mora, María I, Hernández-Lain, Aurelio, Domínguez-González, Cristina
Published in Neurology (25.05.2021)
Published in Neurology (25.05.2021)
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N°194 – Neurophysiological findings in X-linked Charcot-Marie-Tooth disease type 1 (CMTX-1)
Rojas-Contreras, Anna, Lainez, Elena, Morales, Anabel, Sanchez-Tejerina, Daniel, Seoane, Jose, Gratacos, Margarida, Raguer, Nuria
Published in Clinical neurophysiology (01.06.2023)
Published in Clinical neurophysiology (01.06.2023)
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Limbic encephalitis secondary to neuro-Behcet disease: an uncommon presentation
Seoane, D, Roca-Rodríguez, L, Ruiz-Ortiz, M, Franco-Domingo, N, Laespada-García, M I, Sánchez-Tejerina, D, González-Crespo, M R, Villarejo-Galende, A, González-Sánchez, M
Published in Revista de neurologiá (16.07.2023)
Published in Revista de neurologiá (16.07.2023)
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An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature
Sánchez-Tejerina, Daniel, Restrepo-Vera, Juan Luis, Rovira-Moreno, Eulalia, Codina-Sola, Marta, Llauradó, Arnau, Sotoca, Javier, Salvado, Maria, Raguer, Núria, García-Arumí, Elena, Juntas-Morales, Raúl
Published in Genes (19.08.2022)
Published in Genes (19.08.2022)
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Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study
Grosskreutz, Julian, Mantegazza, Renato, Vu, Tuan, Gayfieva, Maryam, Berube, Maxime, Bril, Vera, Ng, Eduardo, Siddiqi, Zaeem, Tyblova, Michaela, Jakubikova, Michala, Witting, Nanna, Stemmerik, Mads, Andersen, Henning, Mathis, Stéphane, Tranchant, Christine, Messai, Sihame, Nadaj-Pakleza, Aleksandra, Stojkovic, Tanya, Querin, Giorgia, Weiss, Nicolas, Magy, Laurent, Hänsel, Eike, Teußer, Lars-Malte, Hagenacker, Tim, Blaes, Franz, Schwarz, Margret, Wiendl, Heinz, Klotz, Luisa, Lammerskitten, Anna, Mantegazza, Renato, Maggi, Lorenzo, Rinaldi, Elena, Tuccillo, Francesco, Umehara, Haruna, Higashi, Keiko, Nakamura, Noriko, Kubota, Tomoya, Yamamoto, Sana, Yokoyama, Kazumasa, Oji, Yutaka, Uzawa, Akiyuki, Sanko, Miki, Nakayama, Mayumi, Masuda, Masayuki, Okubo, Yoshihiko, Minohara, Akiko, Haraguchi, Nana, Naito, Makiko, Fukushige, Yuri, Yoshimura, Shunsuke, Hirayama, Takuro, Okamoto, Naoko, Sekiguchi, Kenji, Chihara, Norio, Suzuki, Shigeaki, Komatsu, Yuka, Tsukita, Kenichi, Watanabe, Genya, Sato, Kazuki, Kawasaki, Emiko, Ono, Hirohiko, Sugimoto, Takamichi, Kitowska, Monika, Zaslavskiy, Leonid, Skornyakova, Evgeniya, Novikova, Ekaterina, Sidorova, Olga, Malkova, Nadezhda, Korobko, Denis, Stojanov, Aleksandar, Peric, Stojan, Lavrnic, Dragana, Casasnovas, Carlos, Querol Gutiérrez, Luis, Canovas Segura, Anna, Juntas Morales, Raúl, Llufriú Durán, Sara, Gutiérrez Gutiérrez, Gerardo, Yeh, Jiann-Horng, Lee, Mei Fen, Akhter, Salma, Lam, Lucy, Holzberg, Shara, Ashworth, Lisa, Bender, Kathryn, Gandhi Mehta, Rachana, Miller, Gina, Smith, Rose, Rosow, Laura, Kang, Min, Denny, Carol, Hanson, Bart, Klein, Sara, Martinez-Thompson, Jennifer, Padgett, Denny, Sorenson, Eric, Baras, Gelasio, Mahuwala, Zabeen, Ryan, Stephen, Sharma, Khema
Published in Lancet neurology (01.05.2023)
Published in Lancet neurology (01.05.2023)
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Amyloid polyneuropathy in a patient with Waldenström macroglobulinemia
Marco, Daniel N., Aldecoa, Iban, Sanchez-Tejerina, Daniel, Milisenda, José C., Aranega, Raquel
Published in Medicina clínica (English ed.) (01.12.2023)
Published in Medicina clínica (English ed.) (01.12.2023)
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Journal Article
Gait Assessment in Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Llauradó, Arnau, Quintana, Manuel, Gratacós-Viñola, Margarita, Vidal-Taboada, Jose Manuel, Restrepo-Vera, Juan Luis, Alemañ, José, López-Diego, Verónica, Salvadó, Maria, Sanchez-Tejerina, Daniel, Sotoca, Javier, Raguer, Núria, Juntas-Morales, Raul
Published in Acta neurologica Scandinavica (08.04.2024)
Published in Acta neurologica Scandinavica (08.04.2024)
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Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial
Benatar, Michael, Hansen, Thomas, Geist, Marie A, Blaettler, Thomas, van den Berg, Leonard H, Morales, Raul Juntas, Chio, Adriano, Andersen, Peter M, Pradat, Pierre-Francois, Lange, Dale, Van Damme, Philip, Mora, Gabriele, Grudniak, Mariusz, Olney, Nicholas, Ladha, Shafeeq, Goyal, Namita A, Meyer, Thomas, Hanna, Michael G, Quinn, Colin, Zinman, Lorne, Jabari, Duaa, Shoesmith, Christen, Ludolph, Albert C, Neuwirth, Christoph, Nations, Sharon, Shefner, Jeremy M, Turner, Martin R, Wuu, Joanne, Bennett, Richard, Dang, Hoang, Sundgreen, Claus, Granit, Volkan, Steele, Julie, Levy, Wendy, Hernandez, Jessica, Bilsker, Martin, Jablońska, Dorota, Janse van Mantgem, Mark R, Bunte, Tommy M, Broere, Bianca, de Fockert, Arianne, Sanchez-Tejerina, Daniel, Calvo, Andrea, Moglia, Cristina, Manera, Umberto, Canosa, Antonio, Vasta, Rosario, Salamone, Paolina, Fuda, Giuseppe, Casale, Federico, Winroth, Ivar, Almgren Stenberg, Erica, Holmgren, Monica, Lenglet, Timothee, Querin, Giorgia, Pavlakis, Pantelis, Holzberg, Shara, Sideri, Riccardo, Marinou, Kalliopi, Czarnecki, Maciej, Ługiewicz, Renata, Biel-Czarnecka, Marta, Boczkowska, Marcelina, Schotte, Caroline, Vynckier, Jan, Claeys, Thomas, Delmotte, Koen, Swinnen, Bart, Serrien, Anouk, D'Hondt, Ann, Lamaire, Nikita, Debien, Elisa, Jones, Sarah, Vachon, Chris, Grogan, James, Solorzano, Guillermo, Rakocevic, Goran, Wagoner, Mary, Flavia, Wiehler, Sonja, Körner, Olivia, Schreiber-Katz, Camilla, Wohnrade, Anastasia, Sarikidi, Chantal, Fischer, Adamo, Ashley, Turcotte, Nicole, Duncan, Jessie, Massie, Rami, Berube, Maxime, Saunders, Natalie, Salmon, Kristiana, Foucher, Juliette, Agessandro, Abrahao, Phung, Liane, Jawdat, Omar, Farmakidis, Constantine, Lillig, Katie, Lackey, Alyssa, Weber, Markus, Levine, Todd
Published in Lancet neurology (01.07.2024)
Published in Lancet neurology (01.07.2024)
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