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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

Neuron · 2011 · Vol. 72(2) · pp. 245–256

Mariely DeJesus‐Hernandez✉(Mayo Clinic in Florida)Ian R. Mackenzie(University of British Columbia)Bradley F. Boeve(Mayo Clinic)Adam L. Boxer(University of California, San Francisco)Matt Baker(Mayo Clinic in Florida)Nicola J. Rutherford(Mayo Clinic in Florida)Alexandra M. Nicholson(Mayo Clinic in Florida)NiCole A. Finch(Mayo Clinic in Florida)Heather C. Flynn(Mayo Clinic)Jennifer Adamson(Mayo Clinic in Florida)Naomi Kouri(Mayo Clinic in Florida)Aleksandra Wojtas(Mayo Clinic in Florida)Pheth Sengdy(University of British Columbia)Ging‐Yuek Robin Hsiung(University of British Columbia)Anna Karydas(University of California, San Francisco)William W. Seeley(University of California, San Francisco)Keith A. Josephs(Mayo Clinic)Giovanni Coppola(University of California, Los Angeles)Daniel H. Geschwind(University of California, Los Angeles)Zbigniew K. Wszołek(Mayo Clinic in Florida)Howard Feldman(Bristol-Myers Squibb (United States))David S. Knopman(Mayo Clinic)Ronald C. Petersen(Mayo Clinic)Bruce L. Miller(University Memory and Aging Center)Dennis W. Dickson(Mayo Clinic in Florida)Khrista Boylan(Mayo Clinic in Florida)Neill R. Graff‐Radford(Mayo Clinic in Florida)Rosa Rademakers(Mayo Clinic in Florida)

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Amyotrophic Lateral Sclerosis Research Neurogenetic and Muscular Disorders Research Parkinson's Disease Mechanisms and TreatmentsC9orf72Frontotemporal dementiaTrinucleotide repeat expansionAmyotrophic lateral sclerosisTARDBPGeneticsBiologyPhenotypeDiseaseGene

MeSH terms

C9orf72 ProteinAllelesAmyotrophic Lateral SclerosisChromosomes, Human, Pair 9FemaleGenotypeHaplotypesHumansMalePedigreeProteinsMicrosatellite RepeatsGenetic Predisposition to DiseasePolymorphism, Single NucleotideDNA Repeat Expansion

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