Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
about
Phenotypic Heterogeneity of Monogenic Frontotemporal DementiaPathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disordersNeuronal RNA-binding proteins in health and diseaseSelf-propagation of pathogenic protein aggregates in neurodegenerative diseasesNeurodegenerative diseases: expanding the prion conceptRNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosisC9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseasesALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72.The genetics of dementia.Upregulation of CB2 receptors in reactive astrocytes in canine degenerative myelopathy, a disease model of amyotrophic lateral sclerosis.Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degenerationMolecular network analysis suggests a logical hypothesis for the pathological role of c9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia.Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia.Identical twins with the C9orf72 repeat expansion are discordant for ALSDementia in 2013: frontotemporal lobar degeneration-building on breakthroughs.Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson diseaseAntisense therapy in neurologyDeletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegansDrosha inclusions are new components of dipeptide-repeat protein aggregates in FTLD-TDP and ALS C9orf72 expansion casesIntermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS--a systematic review and meta-analysis of observational studies.Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis.Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTDClinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects.TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.Amyotrophic lateral sclerosis: an update on recent genetic insights.Oligonucleotide-Based Therapy for FTD/ALS Caused by the C9orf72 Repeat Expansion: A Perspective.Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia.The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.Targeting TDP-43 in neurodegenerative diseases.Changes in the endocannabinoid signaling system in CNS structures of TDP-43 transgenic mice: relevance for a neuroprotective therapy in TDP-43-related disorders.Motor neuron disease-frontotemporal dementia: a clinical continuum.Cognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.Cannabinoids in Neurodegenerative Disorders and Stroke/Brain Trauma: From Preclinical Models to Clinical Applications.Frontotemporal Lobar Degeneration: Mechanisms and Therapeutic Strategies.Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients.
P2860
Q26782984-66C38BE4-E810-475C-BDAF-297A66820480Q26828357-5EAA8E0B-2575-4D73-A4A8-A3E4FEDA68C7Q26866130-E96D5DBD-1E7A-4FC8-BADA-38626D8AE386Q26996441-985AAC8A-46C2-47D6-8A10-8D528E9A61FDQ27011744-B6566829-FF1D-48C6-976A-BB80A210C40BQ28082520-FAC31345-982E-4620-A5D3-C33C5A2300D1Q28085057-E3809D54-BA78-42C3-BEA4-763C312CC6E6Q30826743-AE66FD36-F7BD-43EB-BA4F-D49414D66470Q30976282-8ECEB490-5F5E-47F2-B365-C2104D6BACDDQ33626351-9705379A-356F-4379-8BAF-7D324F198AAEQ33746277-24AF299A-FCAF-4F9B-AF18-EC88FF2174BAQ34038343-DCC6FAC1-C821-4B11-8809-A6BA62B4915BQ34109764-2AD6E2C1-82B2-4402-B2BB-BC80E04674F1Q34342162-5D749153-951E-4320-9E5E-00F61839C7EFQ34386619-E8DF3391-9836-4C0D-AE32-F3BB4175195AQ34396046-7099A0D5-8BAA-4756-8869-A5C96D6E8D1DQ34591257-B2F35636-8838-46F3-A171-88B25B54A863Q34608717-D901762A-C54A-4B3D-9DD1-1FA2E39964D9Q35070967-68EDFF1F-C5E4-4BC9-8AAB-798A2CD8AC66Q35184485-364F5474-AEE1-4DBE-AAC1-0526EA6128B9Q35229930-AEAF1A6C-18E7-4B93-8091-E8E15178E69AQ36405887-87B2DBA4-0A60-4CC4-97C2-40EC0B341BD6Q36494801-05811809-93B3-4AF6-B9C0-DFF38D13230BQ36616570-7364AC93-CA27-484A-AB84-C120E530F29EQ36722177-B89002BD-3804-448F-A559-159B9BB36E39Q37410193-E1D91D48-BC24-4CC0-A5DE-915B383F6BAFQ37499894-090BE26F-ADF0-484E-AB8B-44E4D7CE1B2CQ37664119-7FC53303-3A41-4A2D-BBA4-177B2F97D6BEQ37730909-0B50244E-D6F4-4AB6-90D4-A8C916DDA926Q38148471-B99745D6-6B33-4830-829E-C9457D236501Q38172172-FD9B7392-280D-42A6-AF16-A2D25CE73C1CQ38173694-DA2FF908-4546-4C2A-920D-061A5EE85B6AQ38187051-7D55757D-39ED-4A87-8923-8C19FA2B6B0EQ38197689-0044924B-3279-4D26-B44E-20A79DA92CA4Q38395012-D4EA22DE-F982-4BD1-928A-B76DB8B295D1Q38417288-0ABEFB3E-A228-47FA-949F-9C23149CD16BQ38551786-E515B076-7733-41D7-A7F3-0EE7B4A5CFA9Q38563981-00DF7472-1397-4E13-9D21-B7AA5A6EC9B2Q38625515-AD830014-C455-47D4-97A6-095270596AE5Q38715333-2DD023AE-9511-4390-ADCE-A8465D0AC975
P2860
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
@en
type
label
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
@en
prefLabel
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
@en
P50
P1476
Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum.
@en
P2093
Marc Cruts
Tim Van Langenhove
P304
P356
10.1016/J.TINS.2013.04.010
P577
2013-06-07T00:00:00Z