C9ORF72 Hexanucleotide repeat expansions in patients with als from the coriell cell repository

Neurology

Volumn 79, Issue 5, 2012, Pages 482-483

  Rutherford, Nicola J ^a   DeJesus Hernandez, Mariely ^a   Baker, Matt C ^a   Kryston, Thomas B ^a   Brown, Patricia E ^a   Lomen Hoerth, Catherine ^c   Boylan, Kevin ^b   Wszolek, Zbigniew K ^b   Rademakers, Rosa ^a  

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REPETITIVE DNA;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHROMOSOME 9; CHROMOSOME 9 OPEN READING FRAME 72; CONTROLLED STUDY; DNA DETERMINATION; ELECTROPHORESIS; FAMILIAL DISEASE; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE AMPLIFICATION; GENE MUTATION; GENETIC DISORDER; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; OPEN READING FRAME; PRIMARY LATERAL SCLEROSIS; PRIORITY JOURNAL; PROGRESSIVE BULBAR PALSY; PROGRESSIVE MUSCULAR ATROPHY;

EID: 84866109396     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31826170f1     Document Type: Article

References (5)

1. Ticozzi N, Tiloca C, Morelli C, et al. Genetics of familial amyotrophic lateral sclerosis. Arch Ital Biol 2011; 149:65-82.
2. Dejesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-256.
3. Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-268.
4. Murray ME, DeJesus-Hernandez M, Rutherford NJ, et al. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol 2011;122:673-690.
5. Ince PG, Highley JR, Kirby J, et al. Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology. Acta Neuropathol 2011;122:657-671.