Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles (Q36880886)

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scientific article published on September 1, 1995

Language	Label	Description	Also known as
English	Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles	scientific article published on September 1, 1995

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scholarly article

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Europe PubMed Central

PMC publication ID

16 August 2017

Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles (English)

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16 August 2017

amyotrophic lateral sclerosis

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R. W. Orrell

1

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6 August 2024

A. W. King

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7673954

6 August 2024

D. A. Hilton

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7673954

6 August 2024

M. J. Campbell

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7673954

6 August 2024

R. J. Lane

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7673954

6 August 2024

J. S. de Belleroche

6

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6 August 2024

language of work or name

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publication date

1 September 1995

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16 August 2017

full work available at URL

https://jnnp.bmj.com/content/59/3/266.full.pdf

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7673954

6 August 2024

https://europepmc.org/articles/PMC486027

online access status

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Europe PubMed Central

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7673954

6 August 2024

https://europepmc.org/articles/PMC486027?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7673954

6 August 2024

https://syndication.highwire.org/content/doi/10.1136/jnnp.59.3.266

1 reference

10.1136/JNNP.59.3.266

https://api.crossref.org/works/10.1136/JNNP.59.3.266

6 August 2024

Journal of Neurology, Neurosurgery and Psychiatry

1 reference

Europe PubMed Central

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16 August 2017

59

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Europe PubMed Central

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16 August 2017

3

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

266-270

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Familial progressive supranuclear palsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

The Cu/Zn superoxide dismutase gene in ALS and parkinsonism-dementia of Guam

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

New pathological findings in amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

A radical hypothesis for neurodegeneration

1 reference

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29 September 2017

Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurological disorders: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

In vitro evidence that covalent crosslinking of neurofilaments occurs in gamma-diketone neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

Fine structural observations of neurofilamentous changes in amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

Amyloid of neurofibrillary tangles of Guamanian parkinsonism-dementia and Alzheimer disease share identical amino acid sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

Ubiquitin is associated with abnormal cytoplasmic filaments characteristic of neurodegenerative diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

Ubiquitin in motor neuron disease: study at the light and electron microscope

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

Slow Axonal Transport of Neurofilament Proteins: Impairment of β,β′-Iminodipropionitrile Administration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

29 September 2017

Amyotrophic lateral sclerosis and Parkinsonism-dementia complex on Guam. Further pathologic studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

27 June 2018

Cerebral lesions in familial amyotrophic lateral sclerosis and dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

27 June 2018

Proximal axonal enlargement in motor neuron disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

27 June 2018

Aluminum intoxication: a disorder of neurofilament transport in motor neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

27 June 2018

Focal accumulation of phosphorylated neurofilaments within anterior horn cell in familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

27 June 2018

Involvement of the brain stem reticular formation in familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

27 June 2018

Alzheimer's neurofibrillary changes. A topographic study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

4 September 2018

Onset, natural history and outcome in idiopathic adult motor neuron disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=486027

4 September 2018

Immunocytochemical characterization of neurofibrillary tangles in amyotrophic lateral sclerosis and parkinsonism-dementia of Guam

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Widespread multiple system degeneration in a patient with familial amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mild ALS in Japan associated with novel SOD mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Superoxide dismutase and ALS

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intrafamilial heterogeneity in hereditary motor neuron disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Potential role of an additive genetic component in the cause of amyotrophic lateral sclerosis and parkinsonism-dementia in the western Pacific

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pathology of motor neurons in accelerated hereditary canine spinal muscular atrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial occurrence of amyotrophic lateral sclerosis, parkinsonism, and dementia

1 reference

https://pubmed.ncbi.nlm.nih.gov/7673954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Superoxide dismutase and amyotrophic lateral sclerosis

6

1 reference

10.1136/JNNP.59.3.266

https://api.crossref.org/works/10.1136/JNNP.59.3.266

6 August 2024

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10.1136/JNNP.59.3.266

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

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1 reference

https://api.fatcat.wiki/v0/release/5qd3vvwfsjd6lkvqt6b4d3tvc4

24 November 2022

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mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

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