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Brown, Robert

One or more keywords matched the following items that are connected to Brown, Robert

Item Type	Name
Academic Article	Decreased metallation and activity in subsets of mutant superoxide dismutases associated with familial amyotrophic lateral sclerosis.
Academic Article	Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
Academic Article	Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria.
Academic Article	Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.
Academic Article	Increased affinity for copper mediated by cysteine 111 in forms of mutant superoxide dismutase 1 linked to amyotrophic lateral sclerosis.
Academic Article	Birth order and the genetics of amyotrophic lateral sclerosis.
Academic Article	T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS.
Academic Article	A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q.
Academic Article	Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.
Academic Article	ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2.
Academic Article	Paraoxonase gene mutations in amyotrophic lateral sclerosis.
Academic Article	Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS.
Academic Article	A yeast model of FUS/TLS-dependent cytotoxicity.
Academic Article	Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
Academic Article	dSarm/Sarm1 is required for activation of an injury-induced axon death pathway.
Academic Article	Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.
Academic Article	Mutant dynactin in motor neuron disease.
Academic Article	Mutant SOD1-expressing astrocytes release toxic factors that trigger motoneuron death by inducing hyperexcitability.
Academic Article	Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis.
Academic Article	Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing.
Academic Article	An intersubunit disulfide bond prevents in vitro aggregation of a superoxide dismutase-1 mutant linked to familial amytrophic lateral sclerosis.
Academic Article	Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency.
Academic Article	Small-molecule-mediated stabilization of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants against unfolding and aggregation.
Academic Article	Case records of the Massachusetts General Hospital. Case 35-2006. A newborn boy with hypotonia.
Academic Article	Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brains.
Academic Article	Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration.
Academic Article	DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS.
Academic Article	Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.
Academic Article	Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.
Academic Article	Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.
Academic Article	Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.
Academic Article	Cytotoxicity of botulinum neurotoxins reveals a direct role of syntaxin 1 and SNAP-25 in neuron survival.
Academic Article	Inhibition of fast axonal transport by pathogenic SOD1 involves activation of p38 MAP kinase.
Concept	Mutation
Concept	Point Mutation
Concept	Mutation, Missense
Academic Article	Amyotrophic lateral sclerosis: Problems and prospects.
Academic Article	ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
Academic Article	Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.
Academic Article	Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.
Academic Article	The distinct genetic pattern of ALS in Turkey and novel mutations.
Academic Article	Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Academic Article	Therapeutic rAAVrh10 Mediated SOD1 Silencing in Adult SOD1(G93A) Mice and Nonhuman Primates.
Academic Article	ALS-linked protein disulfide isomerase variants cause motor dysfunction.
Academic Article	CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Academic Article	Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
Academic Article	NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Academic Article	Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
Academic Article	Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity.
Academic Article	Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease.
Academic Article	Silencing strategies for therapy of SOD1-mediated ALS.
Academic Article	Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs.
Academic Article	TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD.
Academic Article	Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Academic Article	Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis.
Academic Article	ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
Academic Article	Finding a Treatment for ALS - Will Gene Editing Cut It?
Academic Article	Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Academic Article	A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.
Academic Article	Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
Academic Article	Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis.
Academic Article	SOD1 Suppression with Adeno-Associated Virus and MicroRNA in Familial ALS.
Academic Article	Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models.
Academic Article	Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Academic Article	Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Academic Article	Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Academic Article	Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.
Academic Article	Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide.
Concept	Loss of Function Mutation
Academic Article	The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Academic Article	Anti-SOD1 Nanobodies That Stabilize Misfolded SOD1 Proteins Also Promote Neurite Outgrowth in Mutant SOD1 Human Neurons.
Academic Article	Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery.
Academic Article	Evaluating protein cross-linking as a therapeutic strategy to stabilize SOD1 variants in a mouse model of familial ALS.

Search Criteria

Mutation