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ListarNeurología por tema "Mutation"

ListarNeurología por tema "Mutation"

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  • Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer's disease 
    Johnson, Erik C. B.; Bian, Shijia; Haque, Rafi U.; Carter, E. Kathleen; Watson, Caroline M.; Gordon, Brian A.; Ping, Lingyan; Duong, Duc M.; Epstein, Michael P.; McDade, Eric; Barthélemy, Nicolas R.; Karch, Celeste M.; Xiong, Chengjie; Cruchaga, Carlos; Perrin, Richard J.; Wingo, Aliza P.; Dominantly Inherited Alzheimer Network (Nature Publishing Company, 2023-08-07)
    Alzheimer's disease (AD) pathology develops many years before the onset of cognitive symptoms. Two pathological processes-aggregation of the amyloid-β (Aβ) peptide into plaques and the microtubule protein tau into ...
  • 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 ...
  • Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice 
    Millar Vernetti, Patricio; Ruiz Yanzi, María Agustina; Rossi, Malco Damián; Merello, Marcelo (Ubiquity Press, 2022-04)
  • Positron emission tomography and magnetic resonance imaging methods and datasets within the Dominantly Inherited Alzheimer Network (DIAN) 
    McKay, Nicole S.; Gordon, Brian A.; Hornbeck, Russ C.; Dincer, Aylin; Flores, Shaney; Keefe, Sarah J.; Joseph-Mathurin, Nelly; Jack, Clifford R.; Koeppe, Robert; Millar, Peter R.; Ances, Beau M.; Chen, Charles D.; Daniels, Alisha; Hobbs, Diana A.; Jackson, Kelley; Koudelis, Deborah; Massoumzadeh, Parinaz; McCullough, Austin; Allegri, Ricardo Francisco; Dominantly Inherited Alzheimer Network (Nature Publishing Group, 2023-07-10)
    The Dominantly Inherited Alzheimer Network (DIAN) is an international collaboration studying autosomal dominant Alzheimer disease (ADAD). ADAD arises from mutations occurring in three genes. Offspring from ADAD families ...
  • Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease 
    Preische, Oliver; Schultz, Stephanie A.; Apel, Anja; Kuhle, Jens; Kaeser, Stephan A.; Barro, Christian; Gräber, Susanne; Kuder-Buletta, Elke; LaFougere, Christian; Laske, Christoph; Vöglein, Jonathan; Levin, Johannes; Masters, Colin L.; Martins, Ralph N.; Schofield, Peter R.; Rossor, Martin N.; Dominantly Inherited Alzheimer Network (Nature Publishing Group, 2019-01-21)
    Neurofilament light chain (NfL) is a promising fluid biomarker of disease progression for various cerebral proteopathies. Here we leverage the unique characteristics of the Dominantly Inherited Alzheimer Network and ...
  • α-Synuclein seed amplification assay detects Lewy body co-pathology in autosomal dominant Alzheimer's disease late in the disease course and dependent on Lewy pathology burden 
    Levin, Johannes; Baiardi, Simone; Quadalti, Corinne; Rossi, Marcello; Mammana, Angela; Vöglein, Jonathan; Bernhardt, Alexander; Perrin, Richard J.; Jucker, Mathias; Preische, Oliver; Hofmann, Anna; Höglinger, Günter U.; Cairns, Nigel J.; Franklin, Erin E.; Chrem Méndez, Patricio Alexis; Dominantly Inherited Alzheimer Network (John Wiley & Sons, 2024-04-26)
    Introduction: Amyloid beta and tau pathology are the hallmarks of sporadic Alzheimer's disease (AD) and autosomal dominant AD (ADAD). However, Lewy body pathology (LBP) is found in ≈ 50% of AD and ADAD brains. Methods: ...

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