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Journal of Child Neurology|July 27, 2012
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patientsMaría S Pérez-Poyato, Mercé Pineda Marfa, Isidre Ferrer Abizanda, et al.
Plos Pathogens|January 23, 2018
Regional and subtype-dependent miRNA signatures in sporadic Creutzfeldt-Jakob disease are accompanied by alterations in miRNA silencing machinery and biogenesisFranc Llorens, Katrin Thüne, Eulàlia Martí, et al.
Acta Neuropathologica Communications|April 29, 2017
Altered Ca<sup>2+</sup> homeostasis induces Calpain-Cathepsin axis activation in sporadic Creutzfeldt-Jakob diseaseFranc Llorens, Katrin Thüne, Beata Sikorska, et al.
Molecular Neurobiology|August 1, 2018
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion DiseasesAnna Villar-Piqué, Matthias Schmitz, Ingolf Lachmann, et al.
The Journal of Clinical Investigation|March 23, 2023
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrityLaura Planas-Serra, Nathalie Launay, Leire Goicoechea, et al.
Brain : a Journal of Neurology|September 14, 2013
DNA methylation map of mouse and human brain identifies target genes in Alzheimer's diseaseJose V Sanchez-Mut, Ester Aso, Nicolas Panayotis, et al.
Neurobiology of Disease|January 26, 2016
Interplay between TDP-43 and docosahexaenoic acid-related processes in amyotrophic lateral sclerosisDaniel Cacabelos, Victòria Ayala, Ana Belén Granado-Serrano, et al.
Human Mutation|May 7, 2019
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiologyFrederic Tort, Olatz Ugarteburu, Laura Texidó, et al.
Neuromuscular Disorders : NMD|June 17, 2011
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathyMontse Olivé, Zagaa Odgerel, Amaia Martínez, et al.
International Journal of Molecular Sciences|October 14, 2022
Pathological Features in Paediatric Patients with TK2 DeficiencyCristina Jou, Andres Nascimento, Anna Codina, et al.
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