Amyotrophic lateral sclerosis: an update on recent genetic insights (Q38148471)

29 August 2017

title

Amyotrophic lateral sclerosis: an update on recent genetic insights (English)

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amyotrophic lateral sclerosis

29 August 2017

main subject

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5

Gen Sobue

1 reference

29 August 2017

Yohei Iguchi

1

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29 August 2017

Masahisa Katsuno

series ordinal

2

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29 August 2017

Kensuke Ikenaka

series ordinal

3

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29 August 2017

Shinsuke Ishigaki

series ordinal

4

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29 August 2017

publication date

2 October 2013

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29 August 2017

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29 August 2017

volume

260

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29 August 2017

issue

11

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29 August 2017

page(s)

2917-2927

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

29 August 2017

cites work

1 reference

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

21 January 2018

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Novel types of frontotemporal lobar degeneration: beyond tau and TDP-43.

21 January 2018

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TDP-43 A315T mutation in familial motor neuron disease

21 January 2018

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

21 January 2018

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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

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TDP-43 mutation in familial amyotrophic lateral sclerosis

21 January 2018

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Structural diversity and functional implications of the eukaryotic TDP gene family

21 January 2018

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Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function

21 January 2018

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TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing

21 January 2018

1 reference

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TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein

21 January 2018

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Nuclear factor TDP-43 can affect selected microRNA levels

21 January 2018

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Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.

21 January 2018

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Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

21 January 2018

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Identification of neuronal RNA targets of TDP-43-containing ribonucleoprotein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice

21 January 2018

1 reference

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Progressive motor weakness in transgenic mice expressing human TDP-43.

21 January 2018

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

21 January 2018

1 reference

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Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Non-human primate model of amyotrophic lateral sclerosis with cytoplasmic mislocalization of TDP-43

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

TDP-43 is a developmentally regulated protein essential for early embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Targeted depletion of TDP-43 expression in the spinal cord motor neurons leads to the development of amyotrophic lateral sclerosis-like phenotypes in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Loss of TDP-43 causes age-dependent progressive motor neuron degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

Genetic contribution of FUS to frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

FUS pathology in basophilic inclusion body disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

A new subtype of frontotemporal lobar degeneration with FUS pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

Male sterility and enhanced radiation sensitivity in TLS(-/-) mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Rethinking ALS: the FUS about TDP-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

FUS regulates genes coding for RNA-binding proteins in neurons by binding to their highly conserved introns

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

FUS-SMN protein interactions link the motor neuron diseases ALS and SMA

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Mutations of optineurin in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Ataxin-2 repeat-length variation and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Long-term potentiation depends on release of D-serine from astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

D-serine is a key determinant of glutamate toxicity in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

D-amino acid oxidase controls motoneuron degeneration through D-serine

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Profilin and the Abl tyrosine kinase are required for motor axon outgrowth in the Drosophila embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Sigma-1 receptor chaperones at the ER-mitochondrion interface regulate Ca(2+) signaling and cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

The sigma-1 receptor is enriched in postsynaptic sites of C-terminals in mouse motoneurons. An anatomical and behavioral study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Perspectives on molecular targeted therapies and clinical trials for neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

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%2FS00415-013-7112-Y

TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Stress granules: the Tao of RNA triage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

TDP-43 is recruited to stress granules in conditions of oxidative insult.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Characterization of alternative isoforms and inclusion body of the TAR DNA-binding protein-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Prion-like properties of pathological TDP-43 aggregates from diseased brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

A yeast functional screen predicts new candidate ALS disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7112-Y

Phosphoinositides' link to neurodegeneration.

21 January 2018

1 reference

12 December 2020

Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene

1 reference

12 December 2020

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Autophagy in spinal cord motor neurons in sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients.

1 reference

12 December 2020

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism

1 reference

12 December 2020

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

1 reference

12 December 2020

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.

1 reference

12 December 2020

PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis

1 reference

12 December 2020

Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND)

1 reference

12 December 2020

Optineurin mutations in Japanese amyotrophic lateral sclerosis

1 reference

12 December 2020

Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin.

1 reference

12 December 2020

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

1 reference

12 December 2020

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

1 reference

12 December 2020

Screening of OPTN in French familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

1 reference

12 December 2020

A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan

1 reference

12 December 2020

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

1 reference

12 December 2020

TDP-43, a neuro-pathosignature factor, is essential for early mouse embryogenesis.

1 reference

12 December 2020

Acanthamoeba profilin interacts with G-actin to increase the rate of exchange of actin-bound adenosine 5'-triphosphate

1 reference

12 December 2020

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation

1 reference

12 December 2020

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France

1 reference

12 December 2020

Drug screening for ALS using patient-specific induced pluripotent stem cells

1 reference

12 December 2020

Optineurin in neurodegenerative diseases

1 reference

12 December 2020

Ubiquilins in the crosstalk among proteolytic pathways

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

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients

1 reference

12 December 2020

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.

1 reference

12 December 2020

10.1007/S00415-013-7112-Y

Identifiers

DOI

1 reference

Dimensions Publication ID

29 August 2017

1008654030

0 references

1 reference