Pages that link to "Q34599648"

The following pages link to C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients (Q34599648):

Displaying 26 items.

• ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family (Q30826743) (← links)
• A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories (Q33658563) (← links)
• The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype (Q34402056) (← links)
• Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion (Q34732361) (← links)
• Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier (Q34810486) (← links)
• C9ORF72 mutations in neurodegenerative diseases (Q38128241) (← links)
• The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues. (Q38187051) (← links)
• C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis (Q38339081) (← links)
• Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations. (Q39354046) (← links)
• The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter (Q40415783) (← links)
• Jump from pre-mutation to pathologic expansion in C9orf72. (Q41989331) (← links)
• Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis (Q42617513) (← links)
• Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis (Q43962698) (← links)
• Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia (Q47209262) (← links)
• Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD. (Q47403937) (← links)
• Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations (Q48027076) (← links)
• Is SIGMAR1 a confirmed FTD/MND gene? (Q48121653) (← links)
• Reply: Is SIGMAR1 a confirmed FTD/MND gene? (Q48121662) (← links)
• Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? (Q48188320) (← links)
• Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? (Q48188331) (← links)
• The Genetics of C9orf72 Expansions (Q51165295) (← links)
• von Economo Neuron Density and Thalamus Volumes in Behavioral Deficits in Frontotemporal Dementia Cases with and without a C9ORF72 Repeat Expansion (Q52095958) (← links)
• TDP-43 proteinopathies: pathological identification of brain regions differentiating clinical phenotypes. (Q53366738) (← links)
• C9orf72-FTD/ALS pathogenesis: evidence from human neuropathological studies (Q58109729) (← links)
• Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation (Q90067975) (← links)
• Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay (Q93088805) (← links)