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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trial
Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
This study investigated TDP‐43 in a larger series of ALS cases, including familial cases with and without SOD1 mutations, and identified it as the major pathological protein in sporadic ALS.
Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis
- L. Ferraiuolo, J. Kirby, A. Grierson, M. Sendtner, P. Shaw
- Biology, PsychologyNature Reviews Neurology
- 1 November 2011
Ongoing research on the cellular pathways highlighted in this Review is predicted to open the door to new therapeutic interventions to slow disease progression in ALS.
Controversies and priorities in amyotrophic lateral sclerosis
Adaptation to culture of human embryonic stem cells and oncogenesis in vivo
It is proposed that the changes observed in HESCs in culture reflect tumorigenic events that occur in vivo, particularly in testicular germ cell tumors, supporting a link between culture adaptation and malignancy.
Oxidative stress in ALS: key role in motor neuron injury and therapeutic target.
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
It is found that FTLD-TDP associates with multiple SNPs mapping to a single linkage disequilibrium block on 7p21 that contains TMEM 106B, which implicate variants in TMEM106B as a strong risk factor for FTLD, suggesting an underlying pathogenic mechanism.
Molecular and cellular pathways of neurodegeneration in motor neurone disease
- P. Shaw
- BiologyJournal of Neurology, Neurosurgery & Psychiatry
- 15 July 2005
There is new evidence that non-neuronal cells in the vicinity of motor neurones may contribute to neuronal injury and the final demise ofMotor neurones is likely to involve a programmed cell death pathway resembling apoptosis.