Controversies and priorities in amyotrophic lateral sclerosis
Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS)
cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial …
cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial …
Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS
Gain-of-function mutations in the Cu,Zn-superoxide dismutase (SOD1) gene are implicated
in progressive motor neuron death and paralysis in one form of inherited amyotrophic lateral …
in progressive motor neuron death and paralysis in one form of inherited amyotrophic lateral …
Biomarkers in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS; motor neuron disease) is a relentlessly progressive
disorder. After half a century of trials, only one drug with modest disease-modifying potency—…
disorder. After half a century of trials, only one drug with modest disease-modifying potency—…
[HTML][HTML] Demonstrated brain insulin resistance in Alzheimer's disease patients is associated with IGF-1 resistance, IRS-1 dysregulation, and cognitive decline
K Talbot, HY Wang, H Kazi, LY Han… - The Journal of …, 2012 - Am Soc Clin Investig
While a potential causal factor in Alzheimer’s disease (AD), brain insulin resistance has not
been demonstrated directly in that disorder. We provide such a demonstration here by …
been demonstrated directly in that disorder. We provide such a demonstration here by …
[HTML][HTML] Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic …
expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic …
Gene expression elucidates functional impact of polygenic risk for schizophrenia
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from dorsolateral …
confer liability is uncertain. The CommonMind Consortium sequenced RNA from dorsolateral …
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
…, K Wagner, Z Mitrovic, D Hilton-Jones, K Talbot… - Nature …, 2004 - nature.com
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disease
and is characterized by considerable clinical and genetic heterogeneity 1 . We previously …
and is characterized by considerable clinical and genetic heterogeneity 1 . We previously …
Altered neuregulin 1–erbB4 signaling contributes to NMDA> receptor hypofunction in schizophrenia
Recent molecular genetics studies implicate neuregulin 1 (NRG1) and its receptor erbB in
the pathophysiology of schizophrenia 1 , 2 , 3 . Among NRG1 receptors, erbB4 is of particular …
the pathophysiology of schizophrenia 1 , 2 , 3 . Among NRG1 receptors, erbB4 is of particular …
[HTML][HTML] An anti-diabetes agent protects the mouse brain from defective insulin signaling caused by Alzheimer's disease–associated Aβ oligomers
Defective brain insulin signaling has been suggested to contribute to the cognitive deficits in
patients with Alzheimer’s disease (AD). Although a connection between AD and diabetes …
patients with Alzheimer’s disease (AD). Although a connection between AD and diabetes …
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
Distal hereditary motor neuropathies are pure motor disorders of the peripheral nervous
system resulting in severe atrophy and wasting of distal limb muscles 1 . In two pedigrees with …
system resulting in severe atrophy and wasting of distal limb muscles 1 . In two pedigrees with …