Familial amyotrophic lateral sclerosis (Q34547620)

2 August 2017

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title

Familial amyotrophic lateral sclerosis. (English)

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amyotrophic lateral sclerosis

2 August 2017

main subject

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2

Guy A Rouleau

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Collette Hand

object named as

Collette K Hand

series ordinal

1

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publication date

1 February 2002

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2 August 2017

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2 August 2017

volume

25

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2 August 2017

issue

2

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2 August 2017

page(s)

135-159

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Recent advances in amyotrophic lateral sclerosis

2 August 2017

cites work

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Elevated cortical extracellular fluid glutamate in transgenic mice expressing human mutant (G93A) Cu/Zn superoxide dismutase

21 January 2018

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The role of calcium-binding proteins in selective motoneuron vulnerability in amyotrophic lateral sclerosis

21 January 2018

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1Alpha, 25 dihydroxyvitamin D3-dependent up-regulation of calcium-binding proteins in motoneuron cells

21 January 2018

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Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia

21 January 2018

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Detection of reverse transcriptase activity in the serum of patients with motor neurone disease

21 January 2018

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Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis

21 January 2018

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Evidence for autoimmunity in amyotrophic lateral sclerosis

21 January 2018

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Immunoassays fail to detect antibodies against neuronal calcium channels in amyotrophic lateral sclerosis serum

21 January 2018

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Increased motoneuron survival and improved neuromuscular function in transgenic ALS mice after intraspinal injection of an adeno-associated virus encoding Bcl-2.

21 January 2018

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Aberrant RNA splicing in sporadic amyotrophic lateral sclerosis

21 January 2018

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Late onset of motor neurons in mice overexpressing wild-type peripherin

21 January 2018

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Interactions between peripherin and neurofilaments in cultured cells: disruption of peripherin assembly by the NF-M and NF-H subunits.

21 January 2018

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Apolipoprotein E and neuromuscular disease: a critical review of the literature

21 January 2018

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Analysis of aldehyde oxidase and xanthine dehydrogenase/oxidase as possible candidate genes for autosomal recessive familial amyotrophic lateral sclerosis

21 January 2018

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Expression of different metallothionein messenger ribonucleic acids in motor cortex, spinal cord and liver from patients with amyotrophic lateral sclerosis

21 January 2018

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Superoxide dismutase 1 subunits with mutations linked to familial amyotrophic lateral sclerosis do not affect wild-type subunit function.

21 January 2018

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Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity

21 January 2018

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Cell death mechanisms in ALS.

21 January 2018

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Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice

21 January 2018

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Amyotrophic lateral sclerosis. Insights from genetics

21 January 2018

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Up-regulation of protein chaperones preserves viability of cells expressing toxic Cu/Zn-superoxide dismutase mutants associated with amyotrophic lateral sclerosis

21 January 2018

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Elevated free nitrotyrosine levels, but not protein-bound nitrotyrosine or hydroxyl radicals, throughout amyotrophic lateral sclerosis (ALS)-like disease implicate tyrosine nitration as an aberrant in vivo property of one familial ALS-linked superox

21 January 2018

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ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions.

21 January 2018

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Aggregation and Motor Neuron Toxicity of an ALS-Linked SOD1 Mutant Independent from Wild-Type SOD1

21 January 2018

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The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase

21 January 2018

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Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

21 January 2018

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Role of SOD-1 and nitric oxide/cyclic GMP cascade on neurofilament aggregation in ALS/MND.

21 January 2018

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From Charcot to SOD1: mechanisms of selective motor neuron death in ALS.

21 January 2018

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Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease.

21 January 2018

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Chaperone-facilitated copper binding is a property common to several classes of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants

21 January 2018

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Extra axonal neurofilaments do not exacerbate disease caused by mutant Cu,Zn superoxide dismutase.

21 January 2018

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Protective effect of neurofilament heavy gene overexpression in motor neuron disease induced by mutant superoxide dismutase

21 January 2018

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Oxidative stress, glutamate, and neurodegenerative disorders

21 January 2018

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Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene

21 January 2018

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Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

21 January 2018

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The copper chaperone for superoxide dismutase

21 January 2018

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Amyotrophic lateral sclerosis: oxidative energy metabolism and calcium homeostasis in peripheral blood lymphocytes

21 January 2018

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Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments

21 January 2018

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Antioxidant therapy in neurologic disease

21 January 2018

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Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

21 January 2018

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The pharmacology and mechanism of action of riluzole

21 January 2018

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Carboxyfullerenes as neuroprotective agents.

21 January 2018

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Motor neuron growth factors

21 January 2018

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Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis

21 January 2018

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Pathogenesis of two axonopathies does not require axonal neurofilaments.

21 January 2018

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Lack of involvement of neuronal nitric oxide synthase in the pathogenesis of a transgenic mouse model of familial amyotrophic lateral sclerosis.

21 January 2018

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Increased 3-nitrotyrosine and oxidative damage in mice with a human copper/zinc superoxide dismutase mutation.

21 January 2018

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Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

21 January 2018

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Expression of a dominant negative mutant of interleukin-1 beta converting enzyme in transgenic mice prevents neuronal cell death induced by trophic factor withdrawal and ischemic brain injury

21 January 2018

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Copper/zinc superoxide dismutase transgenic brain accumulates hydrogen peroxide after perinatal hypoxia ischemia

21 January 2018

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Aberrant copper chemistry as a major mediator of oxidative stress in a human cellular model of amyotrophic lateral sclerosis

21 January 2018

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Superoxide dismutase activity in lymphoblastoid cells from motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) patients

21 January 2018

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Loss of in vitro metal ion binding specificity in mutant copper-zinc superoxide dismutases associated with familial amyotrophic lateral sclerosis

21 January 2018

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Mitochondria and apoptosis

21 January 2018

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Benefit of vitamin E, riluzole, and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis

21 January 2018

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Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

21 January 2018

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Inhibition of interleukin 1beta converting enzyme family proteases reduces ischemic and excitotoxic neuronal damage

21 January 2018

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Natural history of amyotrophic lateral sclerosis in a database population Validation of a scoring system and a model for survival prediction

21 January 2018

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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.

21 January 2018

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Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

21 January 2018

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Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

21 January 2018

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Expression of calbindin-D28K in motoneuron hybrid cells after retroviral infection with calbindin-D28K cDNA prevents amyotrophic lateral sclerosis IgG-mediated cytotoxicity

21 January 2018

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Glutamate transporter EAAT2 splice variants occur not only in ALS, but also in AD and controls

21 January 2018

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Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33

21 January 2018

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Toxic DNA damage by hydrogen peroxide through the Fenton reaction in vivo and in vitro

21 January 2018

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Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

21 January 2018

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Formation of high molecular weight complexes of mutant Cu, Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis.

21 January 2018

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Transgenic mice in the study of ALS: the role of neurofilaments.

21 January 2018

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Absence of linkage between chromosome 21 loci and familial amyotrophic lateral sclerosis

21 January 2018

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Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis.

21 January 2018

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Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions

21 January 2018

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A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease

21 January 2018

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21 January 2018

Excitotoxicity in ALS.

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Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase

21 January 2018

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Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis

21 January 2018

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Enhanced oxygen radical production in a transgenic mouse model of familial amyotrophic lateral sclerosis

21 January 2018

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Mutations in copper-zinc superoxide dismutase that cause amyotrophic lateral sclerosis alter the zinc binding site and the redox behavior of the protein

21 January 2018

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Oxidative damage to mitochondrial DNA shows marked age-dependent increases in human brain.

21 January 2018

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Extra neurofilament NF-L subunits rescue motor neuron disease caused by overexpression of the human NF-H gene in mice.

21 January 2018

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Mitochondrial disease in superoxide dismutase 2 mutant mice

21 January 2018

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A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase

21 January 2018

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Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS)

21 January 2018

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Therapeutic advances in ALS.

21 January 2018

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Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration

21 January 2018

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Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis

21 January 2018

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Identification of alternative splicing forms of GLT-1 mRNA in the spinal cord of amyotrophic lateral sclerosis patients

21 January 2018

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Reduction of axonal caliber does not alleviate motor neuron disease caused by mutant superoxide dismutase 1

21 January 2018

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Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees

21 January 2018

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Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations

21 January 2018

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Spinobulbar muscular atrophy can mimic ALS: The importance of genetic testing in male patients with atypical ALS

21 January 2018

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Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis

21 January 2018

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Extension of Drosophila lifespan by overexpression of human SOD1 in motorneurons

21 January 2018

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Caspase-1 is activated in neural cells and tissue with amyotrophic lateral sclerosis-associated mutations in copper-zinc superoxide dismutase.

21 January 2018

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Conversion of p35 to p25 deregulates Cdk5 activity and promotes neurodegeneration

21 January 2018

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Amyotrophic lateral sclerosis: amino acid levels in plasma and cerebrospinal fluid

21 January 2018

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Motor neuron cell death in a mouse model of FALS is not mediated by the p53 cell survival regulator.

21 January 2018

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Autosomal dominant juvenile amyotrophic lateral sclerosis

21 January 2018

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Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene to a proapoptotic gene: studies in yeast and neural cells

21 January 2018

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Undetectable intracellular free copper: the requirement of a copper chaperone for superoxide dismutase

21 January 2018

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Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.

21 January 2018

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Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

21 January 2018

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Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis

21 January 2018

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An analysis of extended survival in patients with amyotrophic lateral sclerosis treated with riluzole

21 January 2018

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A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis

21 January 2018

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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

21 January 2018

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Excitotoxicity hypothesis

21 January 2018

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Chronic inhibition of superoxide dismutase produces apoptotic death of spinal neurons

21 January 2018

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The copper chaperone CCS is abundant in neurons and astrocytes in human and rodent brain

21 January 2018

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Knockout of glutamate transporters reveals a major role for astroglial transport in excitotoxicity and clearance of glutamate

21 January 2018

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Chronic inhibition of glutamate uptake produces a model of slow neurotoxicity

21 January 2018

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Decreased glutamate transport by the brain and spinal cord in amyotrophic lateral sclerosis

21 January 2018

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Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis

21 January 2018

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Selective loss of glial glutamate transporter GLT‐1 in amyotrophic lateral sclerosis

21 January 2018

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SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis.

21 January 2018

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Amyotrophic lateral sclerosis: human challenge for neuroscience

21 January 2018

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Preferential Zn2+ influx through Ca2+-permeable AMPA/kainate channels triggers prolonged mitochondrial superoxide production

21 January 2018

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Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation

21 January 2018

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Metallothionein immunoreactivity is increased in the spinal cord of patients with amyotrophic lateral sclerosis

21 January 2018

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Reexamination of the mechanism of hydroxyl radical adducts formed from the reaction between familial amyotrophic lateral sclerosis-associated Cu,Zn superoxide dismutase mutants and H2O2.

21 January 2018

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Molecular approaches to amyotrophic lateral sclerosis

21 January 2018

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Presence of 4-hydroxynonenal in cerebrospinal fluid of patients with sporadic amyotrophic lateral sclerosis

21 January 2018

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Size-dependent myelinated fiber loss in the corticospinal tract in Shy-Drager syndrome and amyotrophic lateral sclerosis

21 January 2018

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Neurofilament metabolism in sporadic amyotrophic lateral sclerosis.

21 January 2018

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Amyotrophic lateral sclerosis with numerous axonal spheroids in the corticospinal tract and massive degeneration of the cortex

21 January 2018

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Remarkable increase in cerebrospinal fluid 3-nitrotyrosine in patients with sporadic amyotrophic lateral sclerosis

21 January 2018

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Glutamate transporters are oxidant-vulnerable: a molecular link between oxidative and excitotoxic neurodegeneration?

21 January 2018

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SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter

21 January 2018

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Down-regulation of copper/zinc superoxide dismutase causes apoptotic death in PC12 neuronal cells

21 January 2018

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Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis

21 January 2018

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Sequence variants in human neurofilament proteins: absence of linkage to familial amyotrophic lateral sclerosis

21 January 2018

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Bax and Bcl-2 interaction in a transgenic mouse model of familial amyotrophic lateral sclerosis

21 January 2018

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Survival in patients with amyotrophic lateral sclerosis, treated with an array of antioxidants.

21 January 2018

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Ca2+-Zn2+ permeable AMPA or kainate receptors: possible key factors in selective neurodegeneration

21 January 2018

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Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis

21 January 2018

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Calcium-permeable alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors: a molecular determinant of selective vulnerability in amyotrophic lateral sclerosis

21 January 2018

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Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant

21 January 2018

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Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons

21 January 2018

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An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria

21 January 2018

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Copper chaperone for superoxide dismutase is essential to activate mammalian Cu/Zn superoxide dismutase

21 January 2018

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A gain-of-function of an amyotrophic lateral sclerosis-associated Cu,Zn-superoxide dismutase mutant: An enhancement of free radical formation due to a decrease in Km for hydrogen peroxide

21 January 2018

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Neurofilaments and orthograde transport are reduced in ventral root axons of transgenic mice that express human SOD1 with a G93A mutation

21 January 2018

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Cyclin-dependent kinase 5 is associated with apoptotic cell death during development and tissue remodeling

21 January 2018

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Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis

21 January 2018

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Mutations in all five exons ofSOD-1 may cause ALS

21 January 2018

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Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

21 January 2018

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Association of apolipoprotein E ∈4 allele with bulbar-onset motor neuron disease

21 January 2018

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ALS, SOD and peroxynitrite

21 January 2018

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Inhibition of ICE slows ALS in mice

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MUS.10001

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2 August 2017

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