Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers von Pont-Sunyer, Claustre, Iranzo, Alex, Gaig, Carles, Fernández-Arcos, Ana, Vilas, Dolores, Valldeoriola, Francesc, Compta, Yaroslau, Fernández-Santiago, Ruben, Fernández, Manel, Bayés, Angels, Calopa, Matilde, Casquero, Pilar, de Fàbregues, Oriol, Jaumà, Serge, Puente, Victor, Salamero, Manel, José Martí, Maria, Santamaría, Joan, Tolosa, Eduard

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Debilidad aislada de cinturas: ampliación del espectro fenotípico de la mutación MERRF 8344A>G del ADN mitocondrial von Erdocia Goñi, Amaia, Alonso Jiménez, Alicia, Ramón Carbajo, César, García Arumí, Elena, Casquero Subías, Pilar, Gallardo, Eduard, Díaz Manera, Jordi

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α‐synuclein RT‐QuIC in cerebrospinal fluid of LRRK2‐linked Parkinson's disease von Garrido, Alicia, Fairfoul, Graham, Tolosa, Eduardo S., Martí, Maria José, Green, Alison

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Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts von López-Hernández, Tania, Sirisi, Sònia, Capdevila-Nortes, Xavier, Montolio, Marisol, Fernández-Dueñas, Victor, Scheper, Gert C., van der Knaap, Marjo S., Casquero, Pilar, Ciruela, Francisco, Ferrer, Isidre, Nunes, Virginia, Estévez, Raúl

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Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers von Vilas, Dolores, Ispierto, Lourdes, Álvarez, Ramiro, Pont-Sunyer, Claustre, Martí, María José, Valldeoriola, Francesc, Compta, Yaroslau, de Fabregues, Oriol, Hernández-Vara, Jorge, Puente, Víctor, Calopa, Matilde, Jaumà, Serge, Campdelacreu, Jaume, Aguilar, Miquel, Quílez, Pilar, Casquero, Pilar, Lomeña, Francisco, Ríos, José, Tolosa, Eduardo

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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry von 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

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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49) von Corral-Juan, Marc, Casquero, Pilar, Giraldo-Restrepo, Natalia, Laurie, Steve, Martinez-Piñeiro, Alicia, Mateo-Montero, Raidili Cristina, Ispierto, Lourdes, Vilas, Dolores, Tolosa, Eduardo, Volpini, Victor, Alvarez-Ramo, Ramiro, Sánchez, Ivelisse, Matilla-Dueñas, Antoni

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Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA von Erdocia-Goni, A, Alonso-Jimenez, A, Ramon-Carbajo, C, Garcia-Arumi, E, Casquero, P, Gallardo, E, Diaz-Manera, J

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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49) von Corral Juan, Marc, Casquero, Pilar, Giraldo Restrepo, Natalia, Laurie, Steve, Martinez Piñeiro, Alicia, Mateo Montero, Raidili Cristina, Ispierto, Lourdes, Vilas, Dolores, Tolosa, Eduardo, Volpini, Victor, Alvarez Ramo, Ramiro, Sánchez, Ivelisse, Matilla Dueñas, Antoni

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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49) von Corral Juan, Marc, Casquero, Pilar, Giraldo-Restrepo, Natalia, Laurie, Steven, 1973, Martinez-Piñeiro, Alicia, Mateo-Montero, Raidili Cristina, Ispierto, Lourdes, Vilas, Dolores, Tolosa, Eduard, Volpini, Victor, Alvarez-Ramo, Ramiro, Sánchez, Ivelisse, Matilla Dueñas, Antoni

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Sleep disorders in parkinsonian and nonparkinsonian LRRK2 mutation carriers von Pont-Sunyer, Claustre Pont-Sunyer, Iranzo, Alex, Gaig, Carles, Fernández-Arcos, Ana, Vilas, Dolores, Valldeoriola, Francesc, Compta, Yaroslau, Fernández-Santiago, Ruben, Fernández, Manel, Bayés, Angels, Calopa, Matilde, Casquero, Pilar, De Fàbregues, Oriol, Jaumà, Serge, Puente Periz, Victor Manuel, Salamero, Manel, Martí, Maria José, Santamaría, Joan, Tolosa, Eduard

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The HLA locus and multiple sclerosis in Spain. Role in disease susceptibility, clinical course and response to interferon-β von Villoslada, Pablo, Barcellos, Lisa F, Rio, Jordi, Begovich, Ann B, Tintore, Mar, Sastre-Garriga, Jaume, Baranzini, Sergio E, Casquero, Pilar, Hauser, Stephen L, Montalban, Xavier, Oksenberg, Jorge R

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Mononeuritis multiplex in Waldenström's macroglobulinemia von Lamarca, Josep, Casquero, Pilar, Pou, Adolf

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Frequency of Multiple Sclerosis in Menorca, Balearic Islands, Spain von Casquero, Pilar, Villoslada, Pablo, Montalbán, Xavier, Torrent, Matías

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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49) von Corral-Juan, Marc, Casquero, Pilar, Giraldo-Restrepo, Natalia, Laurie, Steve, Martínez-Piñeiro, Alicia, Mateo-Montero, Raidili Cristina, Ispierto, Lourdes, Vilas, Dolores, Tolosa, Eduardo, Volpini, Víctor, Álvarez, Ramiro, Sánchez, Ivelisse, Matilla-Dueñas, Antoni, Universitat Autònoma de Barcelona

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New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49) von Corral-Juan, Marc, Casquero, Pilar, Giraldo-Restrepo, Natalia, Laurie, Steve, Martínez-Piñeiro, Alicia, Mateo-Montero, Raidili Cristina, Ispierto, Lourdes, Vilas, Dolores, Tolosa, Eduardo, Volpini, Víctor, Álvarez, Ramiro, Sánchez, Ivelisse, Matilla-Dueñas, Antoni, Universitat Autònoma de Barcelona

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A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene von Ars, Elisabet, Kruyer, Helena, Gaona, Antonia, Casquero, Pilar, Rosell, Jordi, Volpini, Víctor, Serra, Eduard, Lázaro, Conxi, Estivill, Xavier

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Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers von Pont Sunyer, Claustre, Iranzo, Alex, Gaig Ventura, Carles, Fernández Arcos, Ana, Vilas, Dolores, Valldeoriola Serra, Francesc, Compta, Yaroslau, Fernández Santiago, Ruben, Fernandez, Manel, Bayes, Angels, Calopa, Matilde, Casquero, Pilar, Fàbregues, Oriol de, Jaumà, Serge, Puente, Victor, Salamero, Manel, Martí, Maria José, Santamaria, Joan, Tolosa, Eduardo

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Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers von Pont Sunyer, Claustre, Iranzo, Alex, Gaig Ventura, Carles, Fernández Arcos, Ana, Vilas Rolán, Dolores, Valldeoriola Serra, Francesc, Compta, Yaroslau, Fernández Santiago, Rubén, Fernandez, Manel, Bayés Rusiñol, Àngels, Calopa, Matilde, Casquero, Pilar, Fàbregues, Oriol de, Jaumà, Serge, Puente, Víctor, Salamero, Manel, Martí Domènech, Ma. Josep, Santamaria Cano, Joan, Tolosa, Eduardo

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Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers von Pont Sunyer, Claustre, Iranzo, Alex, Gaig Ventura, Carles, Fernández Arcos, Ana, Vilas Rolán, Dolores, Valldeoriola Serra, Francesc, Compta, Yaroslau, Fernández Santiago, Rubén, Fernandez, Manel, Bayés Rusiñol, Àngels, Calopa, Matilde, Casquero, Pilar, Fàbregues, Oriol de, Jaumà, Serge, Puente, Victor, Salamero, Manel, Martí Domènech, Ma. Josep, Santamaria Cano, Joan, Tolosa, Eduardo

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