(Q36725198)

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Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis

scientific article published on 22 January 2013

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Europe PubMed Central

PMC publication ID

15 August 2017

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

amyotrophic lateral sclerosis

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frontotemporal dementia

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William S Brooks

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William S Brooks

5

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Jennifer A. Fifita

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Jennifer A Solski

10

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Peter R Schofield

object named as

Peter R Schofield

14

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Glenda Halliday

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Glenda M Halliday

13

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object named as

Ian P Blair

11

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15

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John B J Kwok

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Europe PubMed Central

PMC publication ID

15 August 2017

Carol Dobson-Stone

1

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Carol Dobson-Stone

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Europe PubMed Central

PMC publication ID

15 August 2017

2

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Agnes A Luty

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Peter K Panegyres

8

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Peter K Panegyres

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Janice M Fullerton

12

object named as

Janice M Fullerton

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

author name string

Elizabeth M Thompson

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Peter Blumbergs

4

1 reference

Europe PubMed Central

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15 August 2017

Cathy L Short

6

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Colin D Field

7

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Europe PubMed Central

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15 August 2017

Jane Hecker

9

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Europe PubMed Central

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15 August 2017

publication date

22 January 2013

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Europe PubMed Central

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15 August 2017

Acta Neuropathologica

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Europe PubMed Central

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15 August 2017

125

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Europe PubMed Central

PMC publication ID

15 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

523-533

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

copyright license

Creative Commons Attribution 2.0 Generic

22 January 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

The genetics and neuropathology of amyotrophic lateral sclerosis

1 reference

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The genetics and neuropathology of frontotemporal lobar degeneration

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C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

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Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

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Molecular pathways of frontotemporal lobar degeneration

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Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

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Tau phosphorylation at threonine-175 leads to fibril formation and enhanced cell death: implications for amyotrophic lateral sclerosis with cognitive impairment

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Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

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Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies

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Prominent phenotypic variability associated with mutations in Progranulin

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Clinical diagnosis of vascular dementia

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

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30 September 2017

Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies

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30 September 2017

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

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Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium

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Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia

1 reference

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30 September 2017

A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2.

1 reference

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

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Intracellular processing of aggregated tau differs between corticobasal degeneration and progressive supranuclear palsy

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Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

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Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

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Preliminary NINDS neuropathologic criteria for Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy).

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Distinct isoforms of tau aggregated in neurons and glial cells in brains of patients with Pick's disease, corticobasal degeneration and progressive supranuclear palsy.

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Neurofibrillary degeneration in progressive supranuclear palsy and corticobasal degeneration: tau pathologies with exclusively "exon 10" isoforms

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Widespread neuronal and glial hyperphosphorylated tau deposition in ALS with cognitive impairment.

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TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations

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Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

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Mutations in progranulin explain atypical phenotypes with variants in MAPT.

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Office of Rare Diseases neuropathologic criteria for corticobasal degeneration.

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Consensus recommendations for the postmortem diagnosis of Alzheimer disease from the National Institute on Aging and the Reagan Institute Working Group on diagnostic criteria for the neuropathological assessment of Alzheimer disease

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Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex.

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El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases a

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German-Canadian family (family A) with parkinsonism, amyotrophy, and dementia - Longitudinal observations

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12 December 2020

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10.1007/S00401-013-1078-9

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Europe PubMed Central

PMC publication ID

15 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

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Europe PubMed Central

PMC publication ID

15 August 2017

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