• Comparative diagnostic performance of artificial intelligence models in structural MRI for schizophrenia: A systematic review and meta-analysis 

  Kotochinsky, Martin; Oliveira Fonseca, Pandora Eloa; Ramirez Lopera, Veronica; Mora, Laura; Wellgner Fernandes Oliveira, Amador; Cesar Teixeira Sirena, Eduardo; Bandeira de Melo Guimarães, Felipe; Lahitou Herlyn, Delfina; Norbu Sherpa, Nima; Gonzalez Lezana, Andrea; Pardini Fagundes, Thales (Elsevier, 2025-11-04)

  Introduction: Timely diagnosis of schizophrenia is essential to ensure prompt treatment initiation and adherence. Structural magnetic resonance imaging (sMRI), when combined with artificial intelligence (AI), offers a ...
• Clinical and functional evidence supporting the pathogenicity of the novel PSEN1 p.R358P variant in early-onset Alzheimer's disease 

  García Chialva, Diego; Itzcovich, Tatiana; Cifarelli, Diego; Apecetche, Manuela; Chrem Méndez, Patricio; Magrath Guimet, Nahuel; Vázquez, Silvia; Bérgamo, Yanina; Allegri, Ricardo Francisco; Marazita, Mariela; Sevlever, Gustavo Emilio; Isaja, Luciana; Surace, Ezequiel Ignacio; Romorini, Leonardo (Sage, 2025-11-06)

  BackgroundPathogenic variants in PSEN1, PSEN2, or AβPP cause early-onset Alzheimer's disease (EOAD). Several novel variants remain of uncertain significance (VUS) due to limited evidence. The PSEN1 p.R358P variant has not ...
• Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect 

  Bottino, Marina; Boyer, Monica; Steenari, Maija R.; Barrick, Rebekah; Abdenur, Jose E. (Elsevier, 2025-10-10)

  Pyridoxine-Dependent Epilepsy (PDE) is an autosomal recessive disorder caused by biallelic variants in ALDH7A1. The most common presentation is intractable seizures in the neonatal/early infantile period, which respond to ...
• Síntomas de ansiedad y depresión en adultos con queja cognitiva subjetiva: impacto de la Pandemia COVID-19 

  Berrios, Waleska; Deschle, Florencia; Caporale, Sofía; Di Fonzo, Guido; Moreno, María Cecilia; Saglio, María Laura; Cervino, Cecilia Verónica; Povedano, Guillermo (Polemos, 2025-10-10)

  Introducción: La queja cognitiva subjetiva (QCS) se refiere a la percepción de alteraciones cognitivas en individuos con rendimiento normal en pruebas neuropsicológicas. Las QCS están asociadas con un mayor riesgo de ...
• Analysis of DBS Outcome by MDS-UPDRS Severity Levels: Comparison with Changes on MDS-UPDRS III 

  Castillo Torres, Sergio Andrés; Cruz, Ivonne; Rossi, Malco Damián; Wilken, Miguel; Cerquetti, Daniel; Merello, Marcelo (Wiley, 2025-06-22)

  Background: MDS-UPDRS Severity Levels (SLs), derived from clinician- and patient-rated scales, remain underused to evaluate response to subthalamic deep brain stimulation (STN-DBS) in patients with Parkinson's disease ...

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