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Listar Neuropatología y Biología Molecular.artículos por título

Listar Neuropatología y Biología Molecular.artículos por título

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  • 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies 
    Garibaldi, Matteo; Rendu, John; Brocard, Julie; Lacene, Emmanuelle; Fauré, Julien; Brochier, Guy; Beuvin, Maud; Labasse, Clemence; Madelaine, Angeline; Malfatti, Edoardo; Bevilacqua, Jorge Alfredo; Lubieniecki, Fabiana; Monges, Soledad; Taratuto, Ana Lía; Laporte, Jocelyn; Marty, Isabelle; Antonini, Giovanni; Romero, Norma Beatriz (BioMed Central, 2019-01-05)
    Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large ...
  • Evaluation of Cerebrospinal Fluid Neurofilament Light Chain as a Routine Biomarker in a Memory Clinic 
    Niikado, Matías; Chrem Méndez, Patricio Alexis; Itzcovich, Tatiana; Barbieri-Kennedy, Micaela; Calandri, Ismael Luis; Martinetto, Horacio; Serra, María Mercedes; Calvar, Jorge Andrés; Campos, Jorge; Russo, María Julieta; Pertierra, Lucía; Allegri, Ricardo Francisco; Sevlever, Gustavo Emilio; Surace, Ezequiel Ignacio (Oxford, 2019-03-14)
    Systematic evaluation of biomarkers in representative populations is needed to validate their clinical utility. In this work, we assessed the diagnostic performance of cerebrospinal fluid (CSF) neurofilament light chain ...
  • Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations 
    Sievers, Philipp; Bielle, Franck; Göbel, Kirsten; Schrimpf, Daniel; Nichelli, Lucia; Mathon, Bertrand; Appay, Romain; Boldt, Henning B.; Dohmen, Hildegard; Selignow, Carmen; Acker, Till; Vicha, Ales; Martinetto, Horacio; Schweizer, Leonille; Schüller, Ulrich; Brandner, Sebastian; Wesseling, Pieter; Schmid, Simone; Capper, David; Abdullaev, Zied; Aldape, Kenneth; Korshunov, Andrey; Krieg, Sandro M.; Wick, Wolfgang; Pfister, Stefan M.; von Deimling, Andreas; Reuss, David E.; Jones, David T.W.; Sahm, Felix (Springer Verlag, 2024-07-18)
  • Information theory approaches to improve glioma diagnostic workflows in surgical neuropathology 
    Cevik, Lokman; Vazquez Landrove, Marilyn; Tahir Aslan, Mehmet; Khammad, Vasilii; Garagorry Guerra, Francisco Jose; Cabello-Izquierdo, Yolanda; Wang, Wesley; Zhao, Jing; Paixao Becker, Aline; Czeisler, Catherine; Costa Rendeiro, Anne; Sousa Véras, Lucas Luis; Zanon, Maicon Fernando; Reis, Rui Manuel; de Medeiros Matsushita, Marcus; Ozduman, Koray; Arakaki, Naomi; Martinetto, Horacio; Pamir, M. Necmettin; Ersen Danyeli, Ayca (International Society of Neuropathology, 2022-09)
    Aims: Resource-strained healthcare ecosystems often struggle with the adoption of the World Health Organization (WHO) recommendations for the classification of central nervous system (CNS) tumors. The generation of robust ...
  • Microglial autophagy is impaired by prolonged exposure to β-amyloid peptides: evidence from experimental models and Alzheimer's disease patients 
    Pomilio, Carlos; Gorojod, Roxana M.; Riudavets, Miguel; Vinuesa, Ángeles; Presa, Jessica; Gregosa, Amal; Bentivegna, Melisa; Alaimo, Agustina; Porte Alcon, Soledad; Sevlever, Gustavo Emilio; Kotler, Mónica L.; Beauquis, Juan; Saravia, Flavia (Springer, 2020-01-23)
    Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by the presence of misfolded proteins, amyloid-β (Aβ) aggregates, and neuroinflammation in the brain. Microglial cells are key players in ...
  • Perry disease in an Argentine family due to the DCTN1 p.G67D variant 
    Silva, Emanuel; Itzcovich, Tatiana; Niikado, Matías; Caride, Alejandro; Fernández, Elmer; Vázquez, Juan Carlos; Romorini, Leonardo; Marazita, Mariela Claudia; Sevlever, Gustavo Emilio; Martinetto, Horacio; Surace, Ezequiel Ignacio (Elsevier Science, 2022-03-21)
  • Petroclival intravascular papillary endothelial hyperplasia with psammoma body‐like structures 
    Mezmezian, Mónica Beatriz; Arakaki, Naomi; Fallaza Moya, Silvia; Solé, Horacio; Olvi, Liliana (Blackwell Science Asia, 2020-06-00)
    Masson's tumor or intravascular papillary endothelial hyperplasia (IPEH) is considered a non‐neoplastic lesion. It is probably an unusual exaggerated reorganization of a thrombus. IPEH may be present as a secondary lesion ...
  • Pseudotumoral Presentation of Cerebral Amyloid-Beta Angiopathy: Case Report and Review of Literature 
    Uribe Roca, Claudia; Gonzalez, Fabio Maximiliano; Bala, Marta Inés; Saucedo, Miguel; Bandeo, Lucrecia; León Cejas, Luciana; Pacha, Sol; Bonardo, Pablo; Rugilo, Carlos; Dezanzo, Pablo; Torino, Rafael; Sevlever, Gustavo Emilio; Fernández Pardal, Manuel; Reisin, Ricardo C. (Korean Neuropsychiatric Association, 2021-06-17)
    Objective: Cerebral amyloid angiopathy-related inflammation (CAA-RI) is a rare and potentially treatable encephalopathy that usually affects people older than 50 years old and has an acute or subacute clinical presentation ...
  • Unsupervised machine learning models reveal predictive clinical markers of glioblastoma patient survival using white blood cell counts prior to initiating chemoradiation 
    Wang, Wesley; Kumm, Zeynep Temerit; Ho, Cindy; Zanesco-Fontes, Ideli; Texiera, Gustavo; Reis, Rui Manuel; Martinetto, Horacio; Khan, Javaria; McCandless, Martin G.; Baker, Katherine E.; Anderson, Mark D.; Chohan, Muhammad Omar; Beyer, Sasha; Elder, J. Brad; Giglio, Pierre; Otero, José Javier (Oxford University Press, 2023-11-11)
    Background Glioblastoma is a malignant brain tumor requiring careful clinical monitoring even after primary management. Personalized medicine has suggested the use of various molecular biomarkers as predictors of patient ...

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