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ListarINEU por tema "Enfermedad de Parkinson"

ListarINEU por tema "Enfermedad de Parkinson"

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  • Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 
    Vollstedt, Eva-Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, Marie; Wurster, Isabel; Hentati, Faycel; Mirelman, Anat; Giladi, Nir; Marder, Karen S.; Waters, Cheryl; Fahn, Stanley; Kasten, Meike; Brüggemann, Norbert; Rossi, Malco Damián; Merello, Marcelo; MJFF Global Genetic Parkinson's Disease Study Group (Wiley, 2023-01-24)
    Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of ...
  • How much time is needed in clinical practice to reach a diagnosis of clinically established Parkinson's disease? 
    Rossi, Malco Damián; Perez Lloret, Santiago; Merello, Marcelo (Elsevier, 2021-10-22)
    Introduction: The implementation of accepted clinical diagnostic criteria has improved the accuracy of a clinical diagnosis of Parkinson's disease (PD). Time frames of 3-10 years have been empirically proposed to reach a ...
  • Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia 
    Miranda, Marcelo; Harmuth, Florian; Bustamante, M Leonor; Rossi, Malco Damián; Sturm, Marc; Magnusson, Ólafur Th.; Bauer, Peter; Klockgether, Thomas; Ramirez, Alfredo (Elsevier Science, 2020-12)
  • Involuntary moaning in a Hispanic family with eight affected members 
    Gisatulin, Maria; Rossi, Malco Damián; Perandones, Claudia; Klein, Christine; Lohmann, Katja; Merello, Marcelo (Elsevier, 2021-03-26)
    Involuntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence ...
  • Life events and the onset of motor symptoms in Parkinson's disease 
    Páez Maggio, Mauricio; Rossi, Malco Damián; Martinez, V.; Wainberg, Florencia N.; Merello, Marcelo (Elsevier, 2023-01-11)
    Background: Whether there may be any relationship between stressful or traumatic life events (LE) and the subsequent motor symptoms onset in Parkinson's disease (PD) is still controversial. Objectives: To explore whether ...
  • New Tools for Quantitative Diagnosis of Parkinson's Disease Based on Scale Invariance of Acceleration Signals 
    Bianchi, Gianfranco; Ameghino, Lucía; Tela, Marcela; Terroba Chambi, Cinthia; Rossi, Malco Damián; Merello, Marcelo; Andrés, Daniela S. (Sociedad Argentina de Bioingeniería, 2020-05-13)
    Background: Movement disorders are neurologic syndromes that produce abnormal movements, being Parkinson’s disease (PD) the most frequent. Current diagnosis of Parkinson’s disease is clinical: it is based on expertise, ...
  • Nosology and Phenomenology of Psychosis in Movement Disorders 
    Rossi, Malco Damián; Farcy, Nicole; Starkstein, Sergio E.; Merello, Marcelo (Wiley, 2020-01-07)
    Background Psychotic symptoms such as delusions and hallucinations are part of the clinical picture of several conditions presenting movement disorders. Phenomenology and epidemiology of psychosis in Parkinson's disease ...
  • 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 ...
  • Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations 
    Millar Vernetti, Patricio; Rossi, Malco Damián; Merello, Marcelo (Ubiquity Press, 2020-08-13)
    Background: Parkin mutations are suspected in early-onset Parkinson's disease with early motor complications, and in pedigrees showing an autosomal recessive pattern. Some compound heterozygous mutations can present with ...

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