TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.
Jacksonville, United States. In Acta Neuropathol, 31 Mar 2014
We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays.
Advances in motor neurone disease.
Oxford, United Kingdom. In J R Soc Med, Jan 2014
Motor neurone disease (MND), the commonest clinical presentation of which is amyotrophic lateral sclerosis (ALS), is regarded as the most devastating of adult-onset neurodegenerative disorders.
The neuropathology of sport.
Boston, United States. In Acta Neuropathol, Jan 2014
CTE often occurs as a sole diagnosis, but may be associated with other neurodegenerative disorders, including motor neuron disease (CTE-MND).
Dietary mineral supplies in Africa.
Loughborough, United Kingdom. In Physiol Plant, Jan 2014
Here, we estimate MND risks due to inadequate intakes for seven minerals in Africa using food supply and composition data, and consider the potential of food-based and agricultural interventions.
Neuropathy target esterase (NTE): overview and future.
Ann Arbor, United States. In Chem Biol Interact, Apr 2013
Mutations in the catalytic domain of NTE (PNPLA6) are associated with a slowly developing disease akin to OP neuropathy and hereditary spastic paraplegia called NTE-related motor neuron disorder (NTE-MND).
RNA dysregulation in diseases of motor neurons.
Philadelphia, United States. In Annu Rev Pathol, 2011
In children, inherited spinal muscular atrophies are the predominant diseases that affect motor neurons, whereas in adults, amyotrophic lateral sclerosis, which is inherited but mostly sporadic, is the most common MND.