ArticleNeurology. Genetics2020
Neuropathologic description of
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Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18citing papers in PubMed
2.5field-weighted citation impact, top 8% of its field
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Who cites it
18 citing papers in PubMed, 41 citations in OpenAlex.
- CHCHD2 and CHCHD10 promoted autophagic clearance of protein aggregates via GABARAPs.Autophagy · 2026Article
- CHCHD2 links mitochondrial dysfunction and α-synuclein misfolding in Parkinson's disease.Trends in neurosciences · 2026Article
- Tailoring treatments: pharmacogenomics in the management of neurodegenerative diseases.Acta neurologica Belgica · 2026Review
- Investigation of mitochondrial phenotypes in motor neurons derived by direct conversion of fibroblasts from familial ALS subjects.Cell death & disease · 2025Article
- SLP2/PHB Aggregates in ALS Mouse Models and Patients: Implications BeyondInternational journal of molecular sciences · 2025Article
- Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family.medRxiv : the preprint server for health sciences · 2025Article
- Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.Nature communications · 2025Article
- Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.Brain : a journal of neurology · 2024Article
- Amyloid fibril structures link CHCHD10 and CHCHD2 to neurodegeneration.bioRxiv : the preprint server for biology · 2024Article
- Article
- Fibril structures of TFG protein mutants validate the identification of TFG as a disease-related amyloid protein by the IMPAcT method.PNAS nexus · 2023Article
- Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10.Acta neuropathologica communications · 2022Article
- Intrinsically disordered proteins and proteins with intrinsically disordered regions in neurodegenerative diseases.Biophysical reviews · 2022Review
- Bioinformatic identification of previously unrecognized amyloidogenic proteins.The Journal of biological chemistry · 2022Article
- Mechanistic Insights of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis: An Update on a Lasting Relationship.Metabolites · 2022Review
- Neurodegeneration-associated mitochondrial proteins, CHCHD2 and CHCHD10-what distinguishes the two?Frontiers in cell and developmental biology · 2022Review
- Review
- Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathology.iScience · 2021Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Julia L KeithLaboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.
Emily SwinkinLaboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.
Andrew GaoLaboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.
Samira AlminawiLaboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.
Ming ZhangLaboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.
Philip McGoldrickLaboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.
Paul McKeeverLaboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.
Janice RobertsonLaboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.
Ekaterina RogaevaLaboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.
Lorne ZinmanLaboratory Medicine and Molecular Diagnostics (J.L.K., A.G., S.A.), Division of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto; Department of Medicine (E.S., L.Z.), Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada; School of Medicine and Institute for Advanced Study (M.Z.), Tongji University, Shanghai, China; and Tanz Centre for Research in Neurodegenerative Diseases (M.Z., P. McGoldrick, P. McKeever, J.R., E.R.), University of Toronto, Ontario, Canada.
Sunnybrook Health Science Centre · CAUniversity of Toronto · CATongji University · CNHealth Sciences Centre · CA
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo present the postmortem neuropathologic report of a patient with a
methodsA 54-year-old man without significant medical history or family history presented with arm weakness, slowly progressed over 19 years to meet the El Escorial criteria for clinically probable ALS with bulbar and respiratory involvement, and was found to have a
resultsPostmortem examination of the
conclusionsThe neuropathology of CHCHD10 mutated ALS includes predominantly lower motor neuron degeneration, absent TDP43 immunopathology, and aggregates of predominantly extracellular CHCHD10, which do not contain TDP43.
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