Papp MI, Lantos PL: The distribution of oligodendroglial inclusions in multiple system atrophy and its relevance to clinical symptomatology. Brain. 1994, 117: 235-243. 10.1093/brain/117.2.235.
Article
PubMed
Google Scholar
Tu P, Galvin JE, Baba M, Giasson B, Tomita T, Leight S, Nakajo S, Iwatsubo T, Trojanowski JQ, Lee VMY: Glial cytoplasmic inclusions in white matter oligodendrocytes of multiple system atrophy brains contain insoluble α-synuclein. Ann Neurol. 1998, 44: 415-422. 10.1002/ana.410440324.
Article
CAS
PubMed
Google Scholar
Scholz SW, Houlden H, Schulte C, Sharma M, Li A, Berg D, Melchers A, Paudel R, Gibbs JR, Simon-Sanchez J, Paisan-Ruiz C, Bras J, Ding J, Chen H, Traynor BJ, Arepalli S, Zonozi RR, Revesz T, Holton J, Wood N, Lees A, Oertel W, Wüllner U, Goldwurm S, Pellecchia MT, Illig T, Riess O, Fernandez HH, Rodriguez RL, Okun MS, Poewe W, Wenning GK, Hardy JA, Singleton AB, Del Sorbo F, Schneider S, Bhatia KP, Gasser T: SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol. 2009, 65: 610-614. 10.1002/ana.21685.
Article
PubMed Central
CAS
PubMed
Google Scholar
Al-Chalabi A, Dürr A, Wood NW, Parkinson MH, Camuzat A, Hulot JS, Morrison KE, Renton A, Sussmuth SD, Landwehrmeyer BG, Ludolph A, Agid Y, Brice A, Leigh PN, Bensimon G, NNIPPS Genetic Study Group: Genetic variants of the α-synuclein gene SNCA are associated with multiple system atrophy. PLoS One. 2009, 4: e7114-10.1371/journal.pone.0007114.
Article
PubMed Central
PubMed
Google Scholar
Morris HR, Vaughan JR, Datta SR, Bandopadhyay R, Rohan De Silva HA, Schrag A, Cairns NJ, Burn D, Nath U, Lantos PL, Daniel S, Lees AJ, Quinn NP, Wood NW: Multiple system atrophy/progressive supranuclear palsy: α-synuclein, synphilin, tau, and APOE. Neurology. 2000, 55: 1918-1920.
Article
CAS
PubMed
Google Scholar
Gilman S, Wenning GK, Low PA, Brooks DJ, Mathias CJ, Trojanowski JQ, Wood NW, Colosimo C, Dürr A, Fowler CJ, Kaufmann H, Klockgether T, Lees A, Poewe W, Quinn N, Revesz T, Robertson D, Sandroni P, Seppi K, Vidailhet M: Second consensus statement on the diagnosis of multiple system atrophy. Neurology. 2008, 71: 670-676. 10.1212/01.wnl.0000324625.00404.15.
Article
PubMed Central
CAS
PubMed
Google Scholar
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME: Origins and functional impact of copy number variation in the human genome. Nature. 2010, 464: 704-712. 10.1038/nature08516.
Article
PubMed Central
CAS
PubMed
Google Scholar
Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH: Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet. 2010, 11: 446-450. 10.1038/nrg2809.
Article
PubMed Central
CAS
PubMed
Google Scholar
Bruder CEG, Piotrowski A, Gijsbers AACJ, Andersson R, Erickson S, Diaz de Ståhl T, Menzel U, Sandgren J, von Tell D, Poplawski A, Crowley M, Crasto C, Partridge EC, Tiwari H, Allison DB, Komorowski J, van Ommen G-JB, Boomsma DI, Pedersen NL, den Dunnen JT, Wirdefeldt K, Dumanski JP: Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet. 2008, 82: 763-771. 10.1016/j.ajhg.2007.12.011.
Article
PubMed Central
CAS
PubMed
Google Scholar
Baranzini SE, Mudge J, van Velkinburgh JC, Khankhanian P, Khrebtukova I, Miller NA, Zhang L, Farmer AD, Bell CJ, Kim RW, May GD, Woodward JE, Caillier SJ, McElroy JP, Gomez R, Pando MJ, Clendenen LE, Ganusova EE, Schilkey FD, Ramaraj T, Khan OA, Huntley JJ, Luo S, Kwok P, Wu TD, Schroth GP, Oksenberg JR, Hauser SL, Kingsmore SF: Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature. 2010, 464: 1351-1356. 10.1038/nature08990.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kato T, Emi M, Sato H, Arawaka S, Wada M, Kawanami T, Katagiri T, Tsuburaya K, Toyoshima I, Tanaka F, Sobue G, Matsubara K: Segmental copy-number gain within the region of isopentenyl diphosphate isomerase genes in sporadic amyotrophic lateral sclerosis. Biochem Biophys Res Commun. 2010, 402: 438-442. 10.1016/j.bbrc.2010.10.056.
Article
CAS
PubMed
Google Scholar
Agilent Technologies eArray. [http://earray.chem.agilent.com/earray/]
Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Möller HJ, Hartmann A, et al: Large recurrent microdeletions associated with schizophrenia. Nature. 2008, 455: 232-236. 10.1038/nature07229.
Article
PubMed Central
CAS
PubMed
Google Scholar
Nakayama M, Nozu K, Goto Y, Kamei K, Ito S, Sato H, Emi M, Nakanishi K, Tsuchiya S, Iijima K: HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. Pediatr Nephrol. 2010, 25: 1073-1079. 10.1007/s00467-010-1454-9.
Article
PubMed
Google Scholar
R Development Core Team: The R Project for Statistical Computing. [http://www.R-project.org/]
Database of Genomic Variants. [http://projects.tcag.ca/variation/]
Nakamura T, Muraoka S, Sanokawa R, Mori N: N-Shc and Sck, two neuronally expressed Shc adapter homologs. Their differential regional expression in the brain and roles in neurotrophin and Src signaling. J Biol Chem. 1998, 273: 6960-6967. 10.1074/jbc.273.12.6960.
Article
CAS
PubMed
Google Scholar
Sakai R, Henderson JT, O'Bryan JP, Elia AJ, Saxton TM, Pawson T: The mammalian ShcB and ShcC phosphotyrosine docking proteins function in the maturation of sensory and sympathetic neurons. Neuron. 2000, 28: 819-833. 10.1016/S0896-6273(00)00156-2.
Article
CAS
PubMed
Google Scholar
Youssoufian H, Pyeritz RE: Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet. 2002, 3: 748-758.
Article
CAS
PubMed
Google Scholar
Erickson RP: Somatic gene mutation and human disease other than cancer. Mutat Res. 2003, 543: 125-136. 10.1016/S1383-5742(03)00010-3.
Article
CAS
PubMed
Google Scholar
Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE: Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet. 2009, 84: 148-161. 10.1016/j.ajhg.2008.12.014.
Article
PubMed Central
CAS
PubMed
Google Scholar
Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE: Segmental duplications and copy-number variation in the human genome. Am J Hum Genet. 2005, 77: 78-88. 10.1086/431652.
Article
PubMed Central
CAS
PubMed
Google Scholar
Lupski JR: Genomic rearrangements and sporadic disease. Nat Genet. 2007, 39: S43-47. 10.1038/ng2084.
Article
CAS
PubMed
Google Scholar
Santoro B, Grant SGN, Bartsch D, Kandel ER: Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to Eag and cyclic nucleotide-gated channels. Proc Natl Acad Sci USA. 1997, 94: 14815-14820. 10.1073/pnas.94.26.14815.
Article
PubMed Central
CAS
PubMed
Google Scholar
Ludwig A, Zong X, Stieber J, Hullin R, Hofmann F, Biel M: Two pacemaker channels from human heart with profoundly different activation kinetics. EMBO J. 1999, 18: 2323-2329. 10.1093/emboj/18.9.2323.
Article
PubMed Central
CAS
PubMed
Google Scholar
Dibbens LM, Reid CA, Hodgson B, Thomas EA, Phillips AM, Gazina E, Cromer BA, Clarke AL, Baram TZ, Scheffer IE, Berkovic SF, Petrou S: Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. Ann Neurol. 2010, 67: 542-546.
Article
PubMed Central
CAS
PubMed
Google Scholar
Allavena R, Noy S, Andrews M, Pullen N: CNS elevation of vascular and not mucosal addressin cell adhesion molecules in patients with multiple sclerosis. Am J Pathol. 2010, 176: 556-562. 10.2353/ajpath.2010.090437.
Article
PubMed Central
CAS
PubMed
Google Scholar
Umemori H, Linhoff MW, Ornitz DM, Sanes JR: FGF22 and its close relatives are presynaptic organizing molecules in the mammalian brain. Cell. 2004, 118: 257-270. 10.1016/j.cell.2004.06.025.
Article
CAS
PubMed
Google Scholar
Henrichsen CN, Vinckenbosch N, Zöllner S, Chaignat E, Pradervand S, Schütz F, Ruedi M, Kaessmann H, Reymond A: Segmental copy number variation shapes tissue transcriptomes. Nat Genet. 2009, 41: 424-429. 10.1038/ng.345.
Article
CAS
PubMed
Google Scholar
Hara K, Momose Y, Tokiguchi S, Shimohata M, Terajima K, Onodera O, Kakita A, Yamada M, Takahashi H, Hirasawa M, Mizuno Y, Ogata K, Goto J, Kanazawa I, Nishizawa M, Tsuji S: Multiplex families with multiple system atrophy. Arch Neurol. 2007, 64: 545-551. 10.1001/archneur.64.4.545.
Article
PubMed
Google Scholar