Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

• Protein Biomarkers in Risk and Prognosis of Amyotrophic Lateral Sclerosis

  2026 European Journal of Neurology article Medicine Amyotrophic Lateral Sclerosis Research Open access

  0

  citations
• Multiplex Panel Detects Glial and Inflammatory Biomarker Signatures in Sporadic and C9orf72-ALS

  2026 Neurology Neuroimmunology & Neuroinflammation article Medicine Amyotrophic Lateral Sclerosis Research Open access

  0

  citations
• Ex vivo T2*-weighted MRI and quantitative susceptibility mapping reflect spatial iron accumulation observed on histology in frontotemporal lobar degeneration

  2026 Neurobiology of Disease article Medicine Advanced MRI Techniques and Applications Open access

  1

  citations
• Effect of G 4 C 2 repeat expansions on the motion of lysosomes inside neurites

  2026 Physical Biology article Medicine Amyotrophic Lateral Sclerosis Research Open access

  0

  citations
• Investigating the role of neuroinflammation and brain clearance in frontotemporal lobar degeneration using 7T MRI and fluid biomarkers: protocol for a cross-sectional study in a tertiary care setting

  2025 BMJ Open article Medicine Dementia and Cognitive Impairment Research Open access

  4

  citations
• Investigating the Role of Neuroinflammation and Brain Clearance in Frontotemporal Lobar Degeneration using 7T MRI and Biofluid Markers: Protocol for an observational cross-sectional cohort study

  2025 medRxiv preprint Medicine Dementia and Cognitive Impairment Research Open access

  0

  citations
• Neuronal polyunsaturated fatty acids are protective in ALS/FTD

  2025 Nature Neuroscience article Medicine Amyotrophic Lateral Sclerosis Research Open access

  42

  citations
• Fluid and Imaging Markers of Frontotemporal Lobar Degeneration

  2025 Springer eBooks book-chapter Medicine Dementia and Cognitive Impairment Research

  1

  citations
• The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis

  2025 Brain Communications article Medicine Amyotrophic Lateral Sclerosis Research Open access cited by 1 patent

  2

  citations
• Repeated cognitive assessments show stable function over time in patients with ALS

  2024 Journal of Neurology article Medicine Amyotrophic Lateral Sclerosis Research Open access

  6

  citations
• Neuronal polyunsaturated fatty acids are protective in FTD/ALS

  2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Amyotrophic Lateral Sclerosis Research Open access

  6

  citations
• Loss of PML nuclear bodies in familial amyotrophic lateral sclerosis-frontotemporal dementia

  2023 Cell Death Discovery article Medicine Amyotrophic Lateral Sclerosis Research Open access

  17

  citations
• PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD

  2022 Acta Neuropathologica article Medicine Amyotrophic Lateral Sclerosis Research Open access

  38

  citations
• Effect of G 4 C 2 Repeat Expansions on the Motion of Lysosomes Inside Neurites

  2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Amyotrophic Lateral Sclerosis Research Open access

  0

  citations
• Interactome screening ofC9orf72dipeptide repeats reveals VCP sequestration and functional impairment by polyGA

  2021 Brain article Medicine Amyotrophic Lateral Sclerosis Research Open access

  34

  citations
• Neuromuscular junction‐on‐a‐chip: ALS disease modeling and read‐out development in microfluidic devices

  2020 Journal of Neurochemistry article Medicine Amyotrophic Lateral Sclerosis Research Open access cited by 2 patents

  55

  citations
• VAPB ER-Aggregates, A Possible New Biomarker in ALS Pathology

  2020 Cells article Medicine Amyotrophic Lateral Sclerosis Research Open access

  26

  citations

17 results