Listar por tema "Genetics"

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  • Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification 
    Schottlaender, Lucía V.; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stephanie; Athanasiou Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P.M.; Livingston, John H.; Kalmar, Bernardett; Swayne, Orlando; Hotton, Gary; SYNAPS Study Group; Pittman, Alan; Launchbury, Francesca; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard Loendt, Angela; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Bozdogan, Sevcan Tug; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J.; Brandner, Sebastian; Aurrand-Lions, Michel; Houlden, Henry (Cell Press, 2020-02-05)
    Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To ...
  • Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer’s disease 
    Vöglein, Jonathan; Paumier, Katrina; Jucker, Mathias; Preische, Oliver; McDade, Eric; Hassenstab, Jason; Benzinger, Tammie L.S.; Noble, James M.; Berman, Sarah B.; Graff-Radford, Neill R.; Ghetti, Bernardino; Farlow, Martin R.; Chhatwal, Jasmeer P.; Salloway, Stephen; Xiong, Chengjie; Karch, Celeste M.; Cairns, Nigel; Mori, Hiroshi; Schofield, Peter R.; Masters, Colin L.; Goate, Alison M.; Buckles, Virginia; Fox, Nick C.; Rossor, Martin N.; Chrem Méndez, Patricio Alexis; Allegri, Ricardo Francisco; Ringman, John M.; Höglinger, Günter; Steiner, Harald; Dieterich, Marianne; Haass, Christian; Laske, Christoph; Morris, John C.; Bateman, Randall J.; Danek, Adrian; Levin, Johannes; Dominantly Inherited Alzheimer Network (Oxford, 2019-03-20)
    Owing to an early and marked deposition of amyloid-β in the basal ganglia, autosomal dominant Alzheimer’s disease could distinctly involve motor symptoms. Therefore, we aimed to assess the prevalence and characteristics ...
  • Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review 
    Rossi, Malco Damián; Hamed, Moath; Rodríguez Antigüedad, Jon; Cornejo Olivas, Mario; Breza, Marianthi; Lohmann, Katja; Klein, Christine; Rajalingam, Rajasumi; Marras, Connie; Van de Warrenburg, Bart (Wiley-Liss, 2022-11-14)
    Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. Reports of affected carriers with subthreshold repeat expansions and of patients with Parkinson's ...
  • Mecanismos de memoria y herencia molecular en redes de señalización y regulación génica de células madre pluripotentes. 
    Sevlever, Federico (2022)
    Esta tesis consiste en el estudio del ciclo celular de células madre pluripotentes (CMP) en diferenciación y los mecanismos moleculares que pueden almacenar memoria de un estímulo externo. Pretende mostrar cómo existen ...
  • Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update 
    Lange, Lara M.; Gonzalez-Latapi, Paulina; Rajalingam, Rajasumi; Tijssen, Marina A.J.; Ebrahimi-Fakhari, Darius; Gabbert, Carolin; Ganos, Christos; Ghosh, Rhia; Kumar, Kishore R.; Lang, Anthony E.; Rossi, Malco Damián; Van der Veen, Sterre; Van de Warrenburg, Bart; Warner, Tom; Lohmann, Katja; Klein, Christine; Marras, Connie; Task Force on Genetic Nomenclature in Movement Disorders (Wiley-Liss, 2022-05)
    In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion-based list of confirmed ...
  • A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism 
    Gatto, Emilia M.; Rojas, Galeno J.; Nemirovsky, Sergio I.; Da Prat, Gustavo; Persi, Gabriel; Cesarini, Martin; Etcheverry, Jose L.; Gonzalez Rojas, Natalia; Parisi, Virginia; Cordoba, Marta; Sevlever, Gustavo Emilio; Allegri, Ricardo Francisco; Turjanski, Adrian G. (Elsevier, 2020-08)
    Introduction: Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including ...
  • A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease 
    Itzcovich, Tatiana; Chrem Méndez, Patricio Alexis; Vázquez, Silvia; Barbieri-Kennedy, Micaela; Niikado, Matías; Martinetto, Horacio; Allegri, Ricardo Francisco; Sevlever, Gustavo Emilio; Surace, Ezequiel Ignacio (Elsevier, 2020-01)
    Mutations inPSEN1are the most common cause of early-onset Alzheimer’s disease (AD). In this article,we present an Argentine family with autosomal dominant early- and late-onset AD. The proband and 6family members were ...