| Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism T López-Hernández, MC Ridder, M Montolio, X Capdevila-Nortes, ... The American Journal of Human Genetics 88 (4), 422-432, 2011 | 191 | 2011 |
| GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl− channel auxiliary subunit E Jeworutzki, T López-Hernández, X Capdevila-Nortes, S Sirisi, ... Neuron 73 (5), 951-961, 2012 | 149 | 2012 |
| Mitochondrial and sarcoplasmic reticulum abnormalities in cancer cachexia: altered energetic efficiency? CC Fontes-Oliveira, S Busquets, M Toledo, F Penna, MP Aylwin, S Sirisi, ... Biochimica et Biophysica Acta (BBA)-General Subjects 1830 (3), 2770-2778, 2013 | 132 | 2013 |
| Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts T López-Hernández, S Sirisi, X Capdevila-Nortes, M Montolio, ... Human molecular genetics 20 (16), 3266-3277, 2011 | 110 | 2011 |
| Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction MB Hoegg-Beiler, S Sirisi, IJ Orozco, I Ferrer, S Hohensee, M Auberson, ... Nature communications 5 (1), 3475, 2014 | 109 | 2014 |
| Differential levels of Neurofilament Light protein in cerebrospinal fluid in patients with a wide range of neurodegenerative disorders C Delaby, D Alcolea, M Carmona-Iragui, I Illán-Gala, ... Scientific reports 10 (1), 9161, 2020 | 71 | 2020 |
| The Sant Pau Initiative on Neurodegeneration (SPIN) cohort: a data set for biomarker discovery and validation in neurodegenerative disorders D Alcolea, J Clarimón, M Carmona-Iragui, I Illán-Gala, ... Alzheimer's & Dementia: Translational Research & Clinical Interventions 5 …, 2019 | 61 | 2019 |
| Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents X Capdevila-Nortes, T Lopez-Hernandez, PM Apaja, M López de Heredia, ... Human molecular genetics 22 (21), 4405-4416, 2013 | 61 | 2013 |
| Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis O Dols-Icardo, V Montal, S Sirisi, G López-Pernas, L Cervera-Carles, ... Neurology: Neuroimmunology & Neuroinflammation 7 (5), e829, 2020 | 60 | 2020 |
| Megestrol acetate: its impact on muscle protein metabolism supports its use in cancer cachexia S Busquets, R Serpe, S Sirisi, M Toledo, J Coutinho, R Martínez, M Orpí, ... Clinical Nutrition 29 (6), 733-737, 2010 | 55 | 2010 |
| Cancer cachexia: physical activity and muscle force in tumour-bearing rats M Toledo, S Busquets, S Sirisi, R Serpe, M Orpi, J Coutinho, R Martinez, ... Oncology reports 25 (1), 189-193, 2011 | 52 | 2011 |
| Synaptic oligomeric tau in Alzheimer’s disease—a potential culprit in the spread of tau pathology through the brain M Colom-Cadena, C Davies, S Sirisi, JE Lee, EM Simzer, M Tzioras, ... Neuron 111 (14), 2170-2183. e6, 2023 | 41 | 2023 |
| Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans S Sirisi, M Folgueira, T López-Hernández, L Minieri, C Pérez-Rius, ... Human molecular genetics 23 (19), 5069-5086, 2014 | 41 | 2014 |
| GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy X Elorza-Vidal, S Sirisi, H Gaitan-Penas, C Perez-Rius, M Alonso-Gardon, ... Neurobiology of Disease 119, 88-99, 2018 | 34 | 2018 |
| Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy S Sirisi, X Elorza-Vidal, T Arnedo, M Armand-Ugón, G Callejo, ... Human Molecular Genetics 26 (13), 2436-2450, 2017 | 34 | 2017 |
| Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy T Arnedo, T López‐Hernández, E Jeworutzki, X Capdevila‐Nortes, ... Human Mutation 35 (10), 1175-1178, 2014 | 26 | 2014 |
| Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective R Estevez, X Elorza-Vidal, H Gaitan-Penas, C Perez-Rius, ... European Journal of Medical Genetics 61 (1), 50-60, 2018 | 23 | 2018 |
| Formoterol and cancer muscle wasting in rats: effects on muscle force and total physical activity S Busquets, M Toledo, S Sirisi, M Orpí, R Serpe, J Coutinho, R Martínez, ... Experimental and therapeutic medicine 2 (4), 731-735, 2011 | 23 | 2011 |
| HDL-like-mediated cell cholesterol trafficking in the central nervous system and alzheimer’s disease pathogenesis C Borràs, A Mercer, S Sirisi, D Alcolea, JC Escolà-Gil, F Blanco-Vaca, ... International journal of molecular sciences 23 (16), 9356, 2022 | 13 | 2022 |
| Multimarker synaptic protein cerebrospinal fluid panels reflect TDP-43 pathology and cognitive performance in a pathological cohort of frontotemporal lobar degeneration A Cervantes González, DJ Irwin, D Alcolea, CT McMillan, A Chen-Plotkin, ... Molecular neurodegeneration 17 (1), 29, 2022 | 9 | 2022 |
Francis Lopez SorianoProfesor Titular, Universidad de BarcelonaVerified email at ub.edu
