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Authors whose works are in public domain in at least one jurisdiction

List of works by Robert H Brown

1-50 of 176 results

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

scientific article published on September 2006

Mutant dynactin in motor neuron disease

scientific article published on 10 March 2003

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

scientific article published on 26 February 2006

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

scientific article published on October 17, 2010

XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy

scientific article

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

scientific article

Axonal transport defects in neurodegenerative diseases

scientific article published on October 2009

Intrinsic Membrane Hyperexcitability of Amyotrophic Lateral Sclerosis Patient-Derived Motor Neurons

scientific article published on April 3, 2014

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

scientific article

Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria

scientific article

dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway

scientific article published on June 7, 2012

Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing

scientific article (publication date: 12 December 2003)

Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.

scientific article

T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS.

scholarly article

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

scientific article

Decreased metallation and activity in subsets of mutant superoxide dismutases associated with familial amyotrophic lateral sclerosis.

scientific article

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

scientific article

Sodium phenylbutyrate prolongs survival and regulates expression of anti-apoptotic genes in transgenic amyotrophic lateral sclerosis mice

scientific article published in June 2005

Amyotrophic Lateral Sclerosis

scientific article

Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.

scientific article

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

scientific article published in September 2012

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

scientific article published on October 2010

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

scientific article published on June 1, 2003

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

scientific journal article

Proteomic profiling of cerebrospinal fluid identifies biomarkers for amyotrophic lateral sclerosis

scientific article

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

scientific article

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

scientific article

Neonatal neuronal circuitry shows hyperexcitable disturbance in a mouse model of the adult-onset neurodegenerative disease amyotrophic lateral sclerosis

scientific article published on October 2008

Emerging mechanisms of molecular pathology in ALS

scientific article

Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency

scientific article published on 14 July 2004

Familial amyotrophic lateral sclerosis-associated mutations decrease the thermal stability of distinctly metallated species of human copper/zinc superoxide dismutase

scientific article published on 19 February 2002

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

A yeast model of FUS/TLS-dependent cytotoxicity

scientific article

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

scientific article

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

scientific article published on December 2015

Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions

scientific article

Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities

scientific article

Metabolomic analysis and signatures in motor neuron disease

scientific article published on January 2005

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

scientific article published on December 1, 2011

Corticospinal motor neurons and related subcerebral projection neurons undergo early and specific neurodegeneration in hSOD1G⁹³A transgenic ALS mice

scientific article published on March 2011

Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis.

scientific article

Molecular signature of late-stage human ALS revealed by expression profiling of postmortem spinal cord gray matter

scientific article

Caspase-3 cleaves and inactivates the glutamate transporter EAAT2.

scientific article published on 27 March 2006

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Arimoclomol at dosages up to 300 mg/day is well tolerated and safe in amyotrophic lateral sclerosis

scientific article

Phase 2 study of sodium phenylbutyrate in ALS.

scientific article published in April 2009

ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2.

scientific article

Prophylactic creatine administration mediates neuroprotection in cerebral ischemia in mice

scientific article (publication date: 30 June 2004)