0000000000338224

AUTHOR

Jesus S. Mora

showing 2 related works from this author

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

2013

Hexanucleotide repeat expansions within the C9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The difficulty of developing a precise method to determine the expansion size has hampered the study of possible correlations between the hexanucleotide repeat number and clinical phenotype. Here we characterize, through a new non-radioactive Southern blot protocol, the expansion size range in a series of 38 ALS and 22 FTD heterozygous carriers of >30 copies of the repeat. Maximum, median and modal hexanucleotide repeat number were higher in ALS patients than in FTD patients (P < 0.05 in all comparisons). A higher median numb…

MaleHeterozygoteBiologyC9orf72GeneticsmedicineHumansAmyotrophic lateral sclerosisMolecular BiologyGenetics (clinical)GeneticsDNA Repeat ExpansionC9orf72 ProteinAmyotrophic Lateral SclerosisProteinsHeterozygote advantageTwins MonozygoticGeneral MedicineMiddle AgedDNA Repeat Expansionmedicine.diseaseC9orf72 ProteinBlotting SouthernFrontotemporal DementiaMutationFemaleAge of onsetTrinucleotide repeat expansionFrontotemporal dementia
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Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.

2013

The C9ORF72 Spanish Study Group, et al.

MaleChinaHeterozygoteDNA Mutational AnalysisChromosome 9Kaplan-Meier EstimateBiologyPolymorphism Single NucleotideAsian PeopleGene FrequencyJapanC9orf72GeneticsmedicineEthnicityHumansGenetic Predisposition to DiseaseFamily historyAlleleAmyotrophic lateral sclerosisGenetics (clinical)AgedGeneticsAged 80 and overDNA Repeat ExpansionC9orf72 ProteinHaplotypeAmyotrophic Lateral SclerosisProteinsmedicine.diseaseEuropeHaplotypesSpainAfricaMutationFemaleTrinucleotide repeat expansionFrontotemporal dementia
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