330883 RESULTS
MUTATIONS PSEN1 73673071_73673072 GRCh37/hg19- TGGAATTTTGTGCTGTTG g.58282_58283ins18 g.74893_74894ins18 ΔE9 Δ9 deltaE9 c.869-22_869-23ins18 Intron 8, Exon 9 Insertion Non-Coding Coding Insertion of 18 nucleotides in intron 8 upstream of exon 9, resulting in exon 9
MUTATIONS PSEN1 73671470_73676025 GRCh37/hg19 g.56681_61235del g.73292_77846del ΔE9Finn Δ9Finn Δ9 S290C;T291_S319del Intron 8, Exon 9, Intron 9 Complex Non-Coding Coding 4.6 kb deletion including entire exon 9 and extending into flanking intronic sequences; results
UCLAUnited States
MUTATIONS PSEN1 73671094_73676952 GRCh37/hg19 g.56305_62162del g.72916_78773del ΔE9 Δ9 S290C;T291_S319del Intron 8, Exon 9, Intron 9 Complex Non-Coding Coding 5.9 kb deletion including entire exon 9 and extending into flanking intronic sequences; results in skippin
CONFERENCE COVERAGE SERIES Meeting Explores Regulatory Requirements for Parkinson's MCI Michael J. Fox Foundation Conference
PAPER Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M
PAPER Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW
PAPER Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M
PAPER Vacic V, McCarthy S, Malhotra D, Murray F, Chou HH, Peoples A, Makarov V, Yoon S, Bhandari A, Corominas R, Iakoucheva LM, Krastoshevsky O, Krause V, Larach-Walters V, Welsh DK, Craig D, Kelsoe JR, Gershon ES, Leal SM, Dell Aquila M, Morris DW, Gill M, Corvin A, Insel PA, McClellan J, King MC, Karayiorgou M, Levy DL, DeLisi LE, Sebat J
PAPER Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee C, Tyler-Smith C, Carter N, Scherer SW, Tavaré S, Deloukas P, Hurles ME, Dermitzakis ET
CONFERENCE COVERAGE 2013-06-27 Conference Coverage Most people with Parkinson's disease eventually develop dementia. Similar to Alzheimer's disease, PD dementia begins with subtle deficits in cognition that progress to symptoms recognizable as mild cognitive impairment (MCI).
RESEARCH NEWS 2013-06-27 Research News Scientists hunting for new Alzheimer’s genes usually focus on single nucleotide changes, but a large amount of human genetic variation takes the form of structural rearrangements of DNA, such as deletions and duplications. To look for diseas
PAPER D'amico E, Factor-Litvak P, Santella RM, Mitsumoto H
PAPER Hastings MH, Goedert M
PAPER Cepeda C, Galvan L, Holley SM, Rao SP, André VM, Botelho EP, Chen JY, Watson JB, Deisseroth K, Levine MS
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