C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
about
Recent advances in amyotrophic lateral sclerosisGenotype-phenotype correlations of amyotrophic lateral sclerosisC9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseasesC9orf72 nucleotide repeat structures initiate molecular cascades of disease.Improved high sensitivity screen for Huntington disease using a one-step triplet-primed PCR and melting curve assay.Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansionHypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Aberrant RNA homeostasis in amyotrophic lateral sclerosis: potential for new therapeutic targets?Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.G-quadruplex structures formed by expanded hexanucleotide repeat RNA and DNA from the neurodegenerative disease-linked C9orf72 gene efficiently sequester and activate heme.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature.Emerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers.Chorea as a clinical feature of the basophilic inclusion body disease subtype of fused-in-sarcoma-associated frontotemporal lobar degenerationRecent advances in genetics of choreaA(a)LS: Ammonia-induced amyotrophic lateral sclerosis.Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases.The phenotypic variability of amyotrophic lateral sclerosis.Diagnosis and treatment of chorea syndromes.Cognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.Mutant Huntingtin Disrupts the Nuclear Pore Complex.Parkinsonism, movement disorders and genetics in frontotemporal dementia.Genetics of FTLD: overview and what else we can expect from genetic studies.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.The clinical spectrum of sporadic and familial forms of frontotemporal dementia.Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity.R Loops and Links to Human Disease.A Systematic Review of the Huntington Disease-Like 2 Phenotype.Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington's Disease?C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.Multiple system atrophy and repeat expansions in C9orf72--reply.C9orf72 expansion as a possible genetic cause of Huntington disease phenocopy syndrome.Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.C9ORF72 and the FTD-ALS spectrum: A systematic review of neuroimaging studies.
P2860
Q26749521-9F54461A-42C2-4BE5-BBF6-9C475FC7854EQ26769063-32BD79F5-5DEA-4690-872C-E6859CEA22EBQ28085057-FE053F55-AC58-4306-94D1-4524A2B6AADAQ33715387-02ABFADA-24FA-44E2-9FC3-7C2A8AFA9003Q33897905-48DBB87F-B970-49BA-BAD3-59C5BD7291A1Q33915834-362C2070-9176-4464-AA6C-DFC4D9BED3EFQ34402056-8549A4F3-0477-400E-9CFB-41E29CD86F68Q34732361-4EEF1AB6-AA4F-4DB5-BF31-0B533E01F765Q34810486-D8DEBB26-6FEF-4B22-96C7-336118094CDBQ35019375-B84E1170-25C8-461F-BED7-9FD8A8985E89Q35204586-177CFC83-C6CC-481E-8266-CEA746185933Q35245567-CF187106-5B2A-443F-8EAA-66C3F6AD8255Q35501931-012688A0-5730-4504-A5AF-AD4FFAC017B5Q35904463-AE2191A8-D4D9-44BD-8080-D63C0FB0B8B6Q36187621-BEEAC411-E651-4421-A6DF-8BB827EE686CQ36321473-964792A4-B071-49A4-A794-03C40273DEC0Q36765301-663AE950-90B7-43A1-BB7C-E5CDF83181E9Q37069506-CB50CE94-BA75-4C0C-9F4F-9A241FA37AA4Q37337058-C7D29000-69C4-4A66-9BC5-A7687E1796B0Q38210259-51112A79-20D1-40FA-88CB-981068E0E8DAQ38259758-445A2392-EBB0-4FAE-AE03-8894828EE000Q38332316-697A6B23-DCF0-4878-AA32-4C9B5113E9FEQ38551786-C54B1C4C-F466-434F-9EE4-7607B3373AE2Q38626056-3887F9A9-6E36-4F10-9A92-D0073081895CQ38734025-DE6BD892-36A9-4A2D-B4AE-95F42BBC0861Q38739503-4F75CBFB-DF98-4D2D-A522-DA41A5D89240Q38786774-B9097445-4B00-4551-A731-9A5CF9AF45B4Q38808532-3BB82D98-496E-42DA-AB3D-841668810349Q38825197-C80F5879-DDB0-4149-906A-46632C9571B8Q38826931-DF7162CB-F4D8-4785-9BE9-08399C56FBCEQ38921570-446D069F-84DD-4F30-9478-EA5417A04588Q38947687-FB481F76-1269-4A9A-98F4-497D26ABF526Q39198759-217C9F01-1695-4518-94A5-51B7E898188EQ40859458-8684E9C0-7C79-4565-9A94-98DF6A2A5FE5Q41330887-8E616E09-E829-43C9-B0AF-AADDF044482FQ41481268-B0E86E60-1A94-4652-99A2-6B0DD72DFED8Q42964391-33E52270-E578-411C-8929-C7F5D33E830BQ45300257-78E4C2B9-8F36-46F4-B641-430A0DAF4307Q45971950-26C3FED6-C0BD-4628-B9CB-A45BA7D8FD4CQ47109814-20DDCAE2-C938-4872-9A73-9A6430970CA4
P2860
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
@ast
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
@en
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
@nl
type
label
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
@ast
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
@en
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
@nl
prefLabel
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
@ast
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
@en
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
@nl
P2093
P2860
P50
P3181
P1433
P1476
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
@en
P2093
Andrea Haworth
Ese Mudanohwo
Garry Adamson
James M Polke
Jason Hehir
Mark Poulter
Mary G Sweeney
Peter McColgan
Simon Mead
P2860
P3181
P356
10.1212/WNL.0000000000000061
P407
P577
2014-01-28T00:00:00Z