(Q43838097)

English

Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures

scientific article published in December 2001

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

27 November 2017

Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures (English)

1 reference

Europe PubMed Central

27 November 2017

Giorgio Giaccone

1 reference

ORCID Public Data File 2021

Martin R. Farlow

11

object named as

Farlow MR

1 reference

Europe PubMed Central

27 November 2017

author name string

Takao M

1

1 reference

Europe PubMed Central

27 November 2017

Ghetti B

2

1 reference

Europe PubMed Central

27 November 2017

Murrell JR

3

1 reference

Europe PubMed Central

27 November 2017

Unverzagt FW

4

1 reference

Europe PubMed Central

27 November 2017

Giaccone G

5

1 reference

Europe PubMed Central

27 November 2017

Tagliavini F

6

1 reference

Europe PubMed Central

27 November 2017

Bugiani O

7

1 reference

Europe PubMed Central

27 November 2017

Piccardo P

8

1 reference

Europe PubMed Central

27 November 2017

Hulette CM

9

1 reference

Europe PubMed Central

27 November 2017

Crain BJ

10

1 reference

Europe PubMed Central

27 November 2017

Heyman A

12

1 reference

Europe PubMed Central

27 November 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 December 2001

1 reference

Europe PubMed Central

27 November 2017

Journal of Neuropathology & Experimental Neurology

1 reference

Europe PubMed Central

27 November 2017

60

1 reference

Europe PubMed Central

27 November 2017

12

1 reference

Europe PubMed Central

27 November 2017

1137-1152

1 reference

Europe PubMed Central

27 November 2017

Presenilin structure, function and role in Alzheimer disease.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Cell-type-specific enhancement of amyloid-beta deposition in a novel presenilin-1 mutation (P117L).

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Early-onset Alzheimer's disease in 2 large Belgian families

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Neurogenic phenotypes and altered Notch processing in Drosophila Presenilin mutants.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Amyloid precursor protein processing and A beta42 deposition in a transgenic mouse model of Alzheimer disease

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

N-terminal EFRH sequence of Alzheimer's beta-amyloid peptide represents the epitope of its anti-aggregating antibodies

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Secretion of beta-amyloid precursor protein cleaved at the amino terminus of the beta-amyloid peptide

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Monoclonal antibody AT8 recognises tau protein phosphorylated at both serine 202 and threonine 205.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Detection of phosphorylated Ser262 in fetal tau, adult tau, and paired helical filament tau.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Monoclonal antibodies distinguish phosphorylated and nonphosphorylated forms of neurofilaments in situ

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Phosphorylation-dependent epitopes of neurofilament antibodies on tau protein and relationship with Alzheimer tau

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Neuropathological stageing of Alzheimer-related changes

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Progressive myoclonus epilepsies: specific causes and diagnosis

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Presenilin-1 mutations in Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Glial and neuronoglial malformative lesions associated with medically intractable epilepsy.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Neuronal migration, with special reference to developing human brain: a review

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

The right neuron at the wrong place: biology of heterotopic neurons in cortical neuronal migration disorders, with special reference to associated pathologies.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Notch and presenilins in vertebrates and invertebrates: implications for neuronal development and degeneration

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Presenilins, processing of beta-amyloid precursor protein, and notch signaling.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Notch1 inhibits neurite outgrowth in postmitotic primary neurons.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Skeletal and CNS defects in Presenilin-1-deficient mice

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Glycine 384 is required for presenilin-1 function and is conserved in bacterial polytopic aspartyl proteases

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Apoptotic activities of wild-type and Alzheimer's disease-related mutant presenilins in Drosophila melanogaster

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Consensus Recommendations for the Postmortem Diagnosis of Alzheimer’s Disease

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Molecular consequences of presenilin-1 mutation

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.12.1137

21 January 2018

Identifiers

10.1093/JNEN/60.12.1137

1 reference

Europe PubMed Central

27 November 2017

1 reference

Europe PubMed Central

27 November 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q43838097&oldid=2103773543"