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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALSNEK1 variants confer susceptibility to amyotrophic lateral sclerosisALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriersMutational analysis of TARDBP in neurodegenerative diseasesParaoxonase gene mutations in amyotrophic lateral sclerosis.Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia.Identical twins with the C9orf72 repeat expansion are discordant for ALSGenetic overlap between apparently sporadic motor neuron diseases.Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.Bromodomain inhibitors regulate the C9ORF72 locus in ALSWhole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers.Anti-superoxide dismutase antibodies are associated with survival in patients with sporadic amyotrophic lateral sclerosis.Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALSAssociation between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort studyNeuroprotective effect of oligodendrocyte precursor cell transplantation in a long-term model of periventricular leukomalaciaProfilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia.Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.RNA processing pathways in amyotrophic lateral sclerosis.Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?Motor neuron disease in 2012: Novel causal genes and disease modifiers.Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.Prosaposin is a regulator of progranulin levels and oligomerization.In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers.Jump from pre-mutation to pathologic expansion in C9orf72.Evidence for an oligogenic basis of amyotrophic lateral sclerosis.Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.Mutational analysis of TARDBP in Parkinson's disease.Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.
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description
hulumtuese
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onderzoeker
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հետազոտող
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name
Marka van Blitterswijk
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Marka van Blitterswijk
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Marka van Blitterswijk
@es
Marka van Blitterswijk
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type
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Marka van Blitterswijk
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Marka van Blitterswijk
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Marka van Blitterswijk
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Marka van Blitterswijk
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prefLabel
Marka van Blitterswijk
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Marka van Blitterswijk
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Marka van Blitterswijk
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Marka van Blitterswijk
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P1053
H-7274-2012
P106
P108
P1153
35742026800
P21
P31
P3829
P496
0000-0002-3054-7053