21 papers found
C9ORF72 hexanucleotide repeat expansion in ALS patients from the Central European Russia population
Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions inAtaxin-2does not have 1C2-positive polyglutamine inclusions: Ataxin 2 and MND/ALS
C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis.
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.
The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis
Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology
Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
Pulsatile exposure to simulated reflux leads to changes in gene expression in a 3D model of oesophageal mucosa
The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
Comparison of Blood RNA Extraction Methods Used for Gene Expression Profiling in Amyotrophic Lateral Sclerosis
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles.
Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat
C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.
Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis
Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation.
Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions ofC9ORF72
Gene expression profiling in human neurodegenerative disease
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
Early Diagnosis of Horner Syndrome Using Topical Apraclonidine
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