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Page 1
Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy.
Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Bastard NL, Gearing M, Kaat LD, Swieten JCV, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Deerlin VMV, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; PSP genetics study group; Dickson DW, Höglinger GU, Schellenberg GD, Geschwind DH, Lee WP. Wang H, et al. Among authors: molina porcel l. medRxiv [Preprint]. 2024 Jan 30:2023.12.28.23300612. doi: 10.1101/2023.12.28.23300612. medRxiv. 2024. PMID: 38234807 Free PMC article. Preprint.
IgLON5 deficiency produces behavioral alterations in a knockout mouse model.
Landa J, Serafim AB, Alba M, Maudes E, Molina-Porcel L, Garcia-Serra A, Mannara F, Dalmau J, Graus F, Sabater L. Landa J, et al. Among authors: molina porcel l. Front Immunol. 2024 Feb 2;15:1347948. doi: 10.3389/fimmu.2024.1347948. eCollection 2024. Front Immunol. 2024. PMID: 38370417 Free PMC article.
Genome-Wide DNA Methylation in Early-Onset-Dementia Patients Brain Tissue and Lymphoblastoid Cell Lines.
Ramos-Campoy O, Comas-Albertí A, Hervás D, Borrego-Écija S, Bosch B, Sandoval J, Fort-Aznar L, Moreno-Izco F, Fernández-Villullas G, Molina-Porcel L, Balasa M, Lladó A, Sánchez-Valle R, Antonell A. Ramos-Campoy O, et al. Among authors: molina porcel l. Int J Mol Sci. 2024 May 16;25(10):5445. doi: 10.3390/ijms25105445. Int J Mol Sci. 2024. PMID: 38791483 Free PMC article.
Mitochondrial complex I deficiency stratifies idiopathic Parkinson's disease.
Flønes IH, Toker L, Sandnes DA, Castelli M, Mostafavi S, Lura N, Shadad O, Fernandez-Vizarra E, Painous C, Pérez-Soriano A, Compta Y, Molina-Porcel L, Alves G, Tysnes OB, Dölle C, Nido GS, Tzoulis C. Flønes IH, et al. Among authors: molina porcel l. Nat Commun. 2024 Apr 29;15(1):3631. doi: 10.1038/s41467-024-47867-4. Nat Commun. 2024. PMID: 38684731 Free PMC article.
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study.
Valentino RR, Scotton WJ, Roemer SF, Lashley T, Heckman MG, Shoai M, Martinez-Carrasco A, Tamvaka N, Walton RL, Baker MC, Macpherson HL, Real R, Soto-Beasley AI, Mok K, Revesz T, Christopher EA, DeTure M, Seeley WW, Lee EB, Frosch MP, Molina-Porcel L, Gefen T, Redding-Ochoa J, Ghetti B, Robinson AC, Kobylecki C, Rowe JB, Beach TG, Teich AF, Keith JL, Bodi I, Halliday GM, Gearing M, Arzberger T, Morris CM, White CL 3rd, Mechawar N, Boluda S, MacKenzie IR, McLean C, Cykowski MD, Wang SJ, Graff C, Nagra RM, Kovacs GG, Giaccone G, Neumann M, Ang LC, Carvalho A, Morris HR, Rademakers R, Hardy JA, Dickson DW, Rohrer JD, Ross OA; Pick's disease International Consortium. Valentino RR, et al. Among authors: molina porcel l. Lancet Neurol. 2024 May;23(5):487-499. doi: 10.1016/S1474-4422(24)00083-8. Lancet Neurol. 2024. PMID: 38631765 Free article.
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes.
Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Alex R, Paul De Deyn P, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, G de Yébenes J, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; PSP genetics study group; Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, Lee WP. Wang H, et al. Among authors: molina porcel l. medRxiv [Preprint]. 2024 Feb 28:2024.02.26.24303379. doi: 10.1101/2024.02.26.24303379. medRxiv. 2024. PMID: 38464214 Free PMC article. Preprint.
Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights.
Pérez-Oliveira S, Castilla-Silgado J, Painous C, Aldecoa I, Menéndez-González M, Blázquez-Estrada M, Corte D, Tomás-Zapico C, Compta Y, Muñoz E, Lladó A, Balasa M, Aragonès G, García-González P, Rosende-Roca M, Boada M, Ruíz A, Pastor P, De la Casa-Fages B, Rabano A, Sánchez-Valle R, Molina-Porcel L, Álvarez V. Pérez-Oliveira S, et al. Among authors: molina porcel l. Brain Pathol. 2024 Feb 28:e13250. doi: 10.1111/bpa.13250. Online ahead of print. Brain Pathol. 2024. PMID: 38418081
Down Syndrome Biobank Consortium: A perspective.
Aldecoa I, Barroeta I, Carroll SL, Fortea J, Gilmore A, Ginsberg SD, Guzman SJ, Hamlett ED, Head E, Perez SE, Potter H, Molina-Porcel L, Raha-Chowdhury R, Wisniewski T, Yong WH, Zaman S, Ghosh S, Mufson EJ, Granholm AC. Aldecoa I, et al. Among authors: molina porcel l. Alzheimers Dement. 2024 Mar;20(3):2262-2272. doi: 10.1002/alz.13692. Epub 2024 Jan 25. Alzheimers Dement. 2024. PMID: 38270275 Free PMC article.
Misfolded α-Synuclein in Autosomal Dominant Alzheimer's Disease.
Fort-Aznar L, Molina-Porcel L, Ramos-Campoy O, Esteller D, Naranjo L, Lladó A, Balasa M, Ruiz-García R, Antonell A, Sánchez-Valle R. Fort-Aznar L, et al. Among authors: molina porcel l. J Alzheimers Dis. 2024;97(3):1091-1096. doi: 10.3233/JAD-230919. J Alzheimers Dis. 2024. PMID: 38250774
Clinicopathological correlates in frontotemporal lobar degeneration: motor neuron disease spectrum.
Carbayo Á, Borrego-Écija S, Turon-Sans J, Cortés-Vicente E, Molina-Porcel L, Gascón-Bayarri J, Rubio MÁ, Povedano M, Gámez J, Sotoca J, Juntas-Morales R, Almendrote M, Marquié M, Sánchez-Valle R, Illán-Gala I, Dols-Icardo O, Rubio-Guerra S, Bernal S, Caballero-Ávila M, Vesperinas A, Gelpi E, Rojas-García R. Carbayo Á, et al. Among authors: molina porcel l. Brain. 2024 Jan 16:awae011. doi: 10.1093/brain/awae011. Online ahead of print. Brain. 2024. PMID: 38227807
76 results