Associated Papers
Clinical characterization of the proximal lower-limb ALS phenotype: a retrospective cohort study.
Montalvo A et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2026
The differences in sex ratio between sporadic and familial amyotrophic lateral sclerosis: a systematic review.
Boomsma A et al.
Journal of Neurology, 2026
VAPB is a negative regulator of STING-mediated innate immune signaling.
Ji W et al.
Science Advances, 2025
Tubular ER dysfunction in neurodegenerative diseases.
Sharoar MG et al.
Neurobiology of Disease, 2025
Genetic and clinical insights into ALS8: exploring the impact of VAPB pathogenic variants in familial amyotrophic lateral sclerosis.
Reis AHO et al.
Arquivos De Neuro-psiquiatria, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Activation of polo-like kinase 1 correlates with selective motor neuron vulnerability in familial ALS.
Szewczyk B et al.
Cell Reports, 2025
A VAPB (P56S) mutation in a Dutch patient with familial motor neuron disease: a case report.
Willemse SW et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Convergent activation of the integrated stress response and ER-mitochondria uncoupling in VAPB-associated ALS.
Landry C et al.
Embo Molecular Medicine, 2025
Amyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and Proteostasis.
Ms S et al.
Molecular Neurobiology, 2025
Disclosing Pathogenic Variant Effects on the Structural Dynamics of the VAPB MSP Domain Causing Familial ALS.
Bashar MA et al.
International Journal of Molecular Sciences, 2025
Cognitive and behavioral follow-up of patients with amyotrophic lateral sclerosis type 8.
de Alcântara C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Rare Diseases, Spotlighting Amyotrophic Lateral Sclerosis, Huntington's Disease, and Myasthenia Gravis: Insights from Landscape Analysis of Current Research.
Iyer KA et al.
Biochemistry, 2025
A role for mitochondria-ER crosstalk in amyotrophic lateral sclerosis 8 pathogenesis.
Wilson C et al.
Life Science Alliance, 2025
A decade of whole-exome sequencing in Brazilian Neurology: from past insights to future perspectives.
Quaio CRDC et al.
Arquivos De Neuro-psiquiatria, 2025
Structural and functional studies of the VAPB-PTPIP51 ER-mitochondria tethering proteins in neurodegenerative diseases.
Blair K et al.
Acta Neuropathologica Communications, 2025
Kaempferol enhances ER-mitochondria coupling and protects motor neurons from mitochondrial dysfunction and ER stress in C9ORF72-ALS.
Pilotto F et al.
Acta Neuropathologica Communications, 2025
Amyotrophic Lateral Sclerosis (ALS) Type 8: A Narrative Review.
McBenedict B et al.
Cureus, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Emerging biomarkers in amyotrophic lateral sclerosis: from pathogenesis to clinical applications.
Anjum F et al.
Frontiers in Molecular Biosciences, 2025
Pathogenic mechanisms of amyotrophic lateral sclerosis-linked VAPB P56S mutation in the degeneration of corticospinal motor neurons.
Yang X et al.
Ageing and Neurodegenerative Diseases, 2025
Detection of pTDP-43 via routine muscle biopsy: A promising diagnostic biomarker for amyotrophic lateral sclerosis.
Zhang QJ et al.
Brain Pathology (zurich, Switzerland), 2024