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Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with <i>SOD1</i> mutations

Annals of Neurology · 2007 · Vol. 61(5) · pp. 427–434
Ian R. MackenzieEileen H. BigioPaul G. InceFelix GeserManuela NeumannNigel J. CairnsLinda K. KwongMark S. FormanJohn RavitsHeather StewartAndrew EisenLeo McCluskyHans A. KretzschmarCamelia Maria MonoranuJ. Robin HighleyJanine KirbyTeepu SiddiquePamela J. ShawVirginia M‐Y. LeeJohn Q. Trojanowski

Abstract

These findings implicate pathological TDP-43 in the pathogenesis of sporadic ALS. In contrast, the absence of pathological TDP-43 in cases with SOD1 mutations implies that motor neuron degeneration in these cases may result from a different mechanism, and that cases with SOD1 mutations may not be the familial counterpart of sporadic ALS.

Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders ResearchParkinson's Disease Mechanisms and TreatmentsAmyotrophic lateral sclerosisSOD1PathologicalPathologyPathogenesisMutationMedicineMotor neuronDementiaBiology

MeSH terms

Superoxide Dismutase-1Amyotrophic Lateral SclerosisDNA-Binding ProteinsHumansImmunohistochemistryMedulla OblongataMotor CortexMutationSpinal CordSuperoxide DismutaseUbiquitin
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