Results 191 to 200 of about 167,403 (289)

Evolution of Retinal Morphology Changes in Amyotrophic Lateral Sclerosis. [PDF]

J Clin Med
Koska V, Teufel S, Aytulun A, Weise M, Ringelstein M, Guthoff R, Meuth SG, Albrecht P.   +7 more
europepmc   +1 more source

Rapid generation of prion disease models using AAV‐delivered PrP variants in knockout mice

Brain Pathology, EarlyView.
We developed a rapid AAV‐based system to generate prion disease models in weeks rather than months. Following systemic AAV9P31 delivery of modified PrP to knockout mice, we achieved brain‐wide expression and successful propagation of both classical (RML) and atypical (GSS‐A117V) prion strains.
Maitena San‐Juan‐Ansoleaga, Eva Fernández‐Muñoz, Jorge M. Charco, Enric Vidal, Diego Herrero‐Martínez, Josu Galarza‐Ahumada, Cristina Sampedro‐Torres‐Quevedo, Samanta Giler, Mariví Geijo, Gloria González‐Aseguinolaza, Hasier Eraña, Joaquín Castilla   +11 more
wiley   +1 more source

Noninvasive Ventilation Effectiveness in Amyotrophic Lateral Sclerosis. [PDF]

J Clin Med
Sancho J, Ferrer S, Signes-Costa J.
europepmc   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Somatic gene mutations in the motor cortex of patients with sporadic amyotrophic lateral sclerosis. [PDF]

Brain
González-Velasco Ó, Parlato R, Yilmaz R, Decker L, Menge S, Freischmidt A, Yang X, Tulasi N, Brenner D, Andersen PM, Forsberg KME, Schlachetzki JCM, Brors B, Voith von Voithenberg L, Weishaupt JH.   +14 more
europepmc   +1 more source

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

Brain Pathology, EarlyView.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira, Yaiza López‐Sampere, Pol Mengod‐Soler, Mario Peña‐Fonteboa, Carla Marco, Alejandro Caravaca‐Puchades, Raúl Domínguez, Juan Francisco Vázquez‐Costa, Enrique Santamaría, Joaquín Fernández‐Irigoyen, María J. Colomina, Isabel León Moreno, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Gabriel Santpere, Elia Obis, Manuel Portero‐Otín, Gerard Piñol‐Ripoll, Mónica Povedano, Pol Andrés‐Benito   +19 more
wiley   +1 more source

Amyotrophic Lateral Sclerosis (ALS) Genetics and Microbiota: A Comprehensive Review. [PDF]

Int J Mol Sci
Kurdi MA, Alotaibi H, Alkhuraymi AT, Aldahery LN, Alhawaj AF, Aldali HJ.   +5 more
europepmc   +1 more source

Associations between TMEM106B C‐terminal fragment aggregation, age, and TDP‐43 or tau pathology

Brain Pathology, EarlyView.
TMEM106B C‐terminal fragment (CTF) aggregation represents an age‐associated, common, diffuse phenomenon emerging after midlife with a weak association with TDP‐43 or tau pathology. These findings suggest that TMEM106B fibrillization may define a distinct axis of protein aggregation in the aging human brain. Abstract Transmembrane protein 106B (TMEM106B)
Albert Acewicz, Sylwia Tarka, Michał Grzegorczyk, Radosław Rzepliński, Teresa Wierzba‐Bobrowicz, Tomasz Stępień   +5 more
wiley   +1 more source

Reappraisal of the Diagnostic Significance of Transcranial Magnetic Stimulation and Triple Stimulation in Amyotrophic Lateral Sclerosis. [PDF]

Eur J Neurol
Andersen B, Krarup C.
europepmc   +1 more source

New perspectives on VEGF signalling in Alzheimer's disease

Brain Pathology, EarlyView.
Emery et al. bring together findings from recent multi‐omic studies, including single‐cell mRNA analysis of human post‐mortem brain tissue, and proteomic analysis of matched CSF and blood samples in large clinical studies. The authors present evidence of the involvement of altered VEGF signalling in vascular and immune dysfunction and neurodegeneration
Cherelle E. G. Emery, Seth Love, J. Scott Miners   +2 more
wiley   +1 more source