(Q37929017)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901496%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

review article

1 reference

title

Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901496%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

12 February 2020

main subject

0 references

0 references

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901496%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Faisal Fecto

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901496%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

publication date

7 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901496%20AND%20SRC:MED&resulttype=core&format=json

Journal of Molecular Neuroscience

12 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901496%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901496%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901496%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

663-675

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901496%20AND%20SRC:MED&resulttype=core&format=json

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

12 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Neurotoxic effects of TDP-43 overexpression in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Cerebral lesions in familial amyotrophic lateral sclerosis and dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Young-onset sporadic amyotrophic lateral sclerosis: a distinct nosological entity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal death.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

FUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

No evidence for cognitive dysfunction or depression in patients with mild restless legs syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

A Drosophila model for TDP-43 proteinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Are amyotrophic lateral sclerosis patients cognitively normal?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Mutations of optineurin in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

An autopsied case of sporadic adult-onset amyotrophic lateral sclerosis with FUS-positive basophilic inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Genetics of Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Chapter 15 Juvenile amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Mutant dynactin in motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Prevalence and patterns of cognitive impairment in sporadic ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Juvenile amyotrophic lateral sclerosis-dementia complex in a Dutch family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Paraoxonase gene mutations in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Genetics of familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Recent advances in the genetics of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Genetic contribution of FUS to frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Hippocampal and neocortical ubiquitin-immunoreactive inclusions in amyotrophic lateral sclerosis with dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Transgenic rat model of neurodegeneration caused by mutation in the TDP gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Discovering the connection between familial and sporadic amyotrophic lateral sclerosis: pathology trumps genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12031-011-9637-9

Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis

21 January 2018

1 reference

12 December 2020

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

1 reference

12 December 2020

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

1 reference

12 December 2020

Genetics of familial Amyotrophic lateral sclerosis

1 reference

12 December 2020

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease

1 reference

12 December 2020

Paget's disease of bone and motor neuron disease

1 reference

12 December 2020

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.

1 reference

12 December 2020

Analysis of optineurin in frontotemporal lobar degeneration.

1 reference

12 December 2020

Optineurin in neurodegenerative diseases

1 reference

12 December 2020

Linkage analysis in familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

1 reference

12 December 2020

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians

1 reference

12 December 2020

Familial motor neuron diseases

1 reference

12 December 2020

10.1007/S12031-011-9637-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21901496%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference