Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene (Q36392290)

13 August 2017

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title

Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene (English)

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amyotrophic lateral sclerosis

13 August 2017

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1

Peter M Andersen

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13 August 2017

1 January 2006

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Current Neurology and Neuroscience Reports

13 August 2017

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13 August 2017

6

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13 August 2017

37-46

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13 August 2017

1

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https://scigraph.springernature.com/pub.10.1007/s11910-996-0008-9

13 August 2017

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cites work

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-996-0008-9

Mutant copper-zinc superoxide dismutase binds to and destabilizes human low molecular weight neurofilament mRNA.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-996-0008-9

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-996-0008-9

Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosis.

21 January 2018

1 reference

12 December 2020

Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect

1 reference

12 December 2020

A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy

1 reference

12 December 2020

Relevance of oxidative injury in the pathogenesis of motor neuron diseases

1 reference

12 December 2020

Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants

1 reference

12 December 2020

Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Normal complement of motor units in asymptomatic familial (SOD1 mutation) amyotrophic lateral sclerosis carriers

1 reference

12 December 2020

Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

1 reference

12 December 2020

Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Mutations in all five exons ofSOD-1 may cause ALS

1 reference

12 December 2020

Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum?

1 reference

12 December 2020

Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation

1 reference

12 December 2020

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders

1 reference

12 December 2020

Preserved slow conducting corticomotoneuronal projections in amyotrophic lateral sclerosis with autosomal recessive D90A CuZn-superoxide dismutase mutation

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12 December 2020

Dynein mutations impair autophagic clearance of aggregate-prone proteins

1 reference

12 December 2020

A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice

1 reference

12 December 2020

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

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12 December 2020

Long term proteasome inhibition does not preferentially afflict motor neurons in organotypical spinal cord cultures

1 reference

12 December 2020

Frontotemporal lobar degeneration with ubiquitin-only-immunoreactive neuronal changes: broadening the clinical picture to include progressive supranuclear palsy

1 reference

12 December 2020

Minocycline prevents neurotoxicity induced by cerebrospinal fluid from patients with motor neurone disease

1 reference

12 December 2020

Hoarseness due to bilateral vocal cord paralysis as an initial manifestation of familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Mutant superoxide dismutase disrupts cytoplasmic dynein in motor neurons

1 reference

12 December 2020

Monomeric Cu,Zn-superoxide dismutase is a common misfolding intermediate in the oxidation models of sporadic and familial amyotrophic lateral sclerosis.

1 reference

12 December 2020

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

1 reference

12 December 2020

Age dependent penetrance of three different superoxide dismutase 1 (sod 1) mutations.

1 reference

12 December 2020

The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

1 reference

12 December 2020

Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients

1 reference

12 December 2020

Does primary lateral sclerosis exist? A study of 20 patients and a review of the literature

1 reference

12 December 2020

Severely increased risk of amyotrophic lateral sclerosis among Italian professional football players

1 reference

12 December 2020

Incidence of amyotrophic lateral sclerosis in southern Italy: a population based study.

1 reference

12 December 2020

Word retrieval in amyotrophic lateral sclerosis: a functional magnetic resonance imaging study.

1 reference

12 December 2020

?True? sporadic ALS associated with a novel SOD-1 mutation

1 reference

12 December 2020

An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation

1 reference

12 December 2020

Genetics of ALS in Italian families

1 reference

12 December 2020

Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

1 reference

12 December 2020

No effect of creatine on respiratory distress in amyotrophic lateral sclerosis

1 reference

12 December 2020

Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis

1 reference

12 December 2020

Distinct cerebral lesions in sporadic and 'D90A' SOD1 ALS: studies with [11C]flumazenil PET.

1 reference

12 December 2020

Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND).

1 reference

12 December 2020

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

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12 December 2020

Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies.

1 reference

12 December 2020

Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients

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12 December 2020

Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.

1 reference

12 December 2020

Wild-Type Nonneuronal Cells Extend Survival of SOD1 Mutant Motor Neurons in ALS Mice

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12 December 2020

Avoiding false positive diagnoses of motor neuron disease: lessons from the Scottish Motor Neuron Disease Register

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12 December 2020

10.1007/S11910-996-0008-9

Identifiers

DOI

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13 August 2017

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PubMed ID

16469270