Page 130 - Read Online
P. 130

Silva Rd, Myers A, Vrieze FW, Singleton A, Hardy J. The tau H2   Rozenberg  R, Samii  A, Samaddar  T, Schulte  C, Sharma  M,
              haplotype is almost exclusively Caucasian in origin. Neurosci Lett   Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S,
              2004;369:183‑5.                                     Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG.
           71.  Skipper  L, Wilkes  K, Toft  M, Baker  M, Lincoln  S, Hulihan  M,   Multicenter analysis of glucocerebrosidase mutations in Parkinson’s
              Ross OA, Hutton M, Aasly J, Farrer M. Linkage disequilibrium and   disease. N Engl J Med 2009;361:1651‑61.
              association of MAPT H1 in Parkinson disease. Am J Hum Genet   87.  DePaolo J, Goker‑Alpan O, Samaddar T, Lopez G, Sidransky E.
              2004;75:669‑77.                                     The association between mutations in the lysosomal protein
           72.  Fidani L, Kalinderi K, Bostantjopoulou S, Clarimon J, Goulas A,   glucocerebrosidase and parkinsonism. Mov Disord 2009 15;24:1571‑8.
              Katsarou Z, Hardy J, Kotsis A. Association of the Tau haplotype   88.  Goker‑Alpan  O, Lopez  G, Vithayathil  J, Davis  J, Hallett  M,
              with Parkinson’s disease in the Greek population. Mov Disord   Sidransky E. The spectrum of parkinsonian manifestations associated
              2006;21:1036‑9.                                     with glucocerebrosidase mutations. Arch Neurol 2008;65:1353‑7.
           73.  Refenes N, Bolbrinker J, Tagaris G, Orlacchio A, Drakoulis N,   89.  Kitada  T, Asakawa  S, Hattori  N, Matsumine  H, Yamamura  Y,
              Kreutz R. Role of the H1 haplotype of microtubule‑associated protein   Minoshima S, Yokochi M, Mizuno Y, Shimizu N. Mutations in the
              tau (MAPT) gene in Greek patients with Parkinson’s disease. BMC   parkin gene cause autosomal recessive juvenile parkinsonism.
              Neurol 2009;9:26.                                   Nature 1998;392:605‑8.
           74.  Fung HC, Xiromerisiou G, Gibbs JR, Wu YR, Eerola J, Gourbali V,   90.  Dekker MC, Bonifati V, van Duijn CM. Parkinson’s disease: piecing
              Hellström O, Chen CM, Duckworth J, Papadimitriou A, Tienari PJ,   together a genetic jigsaw. Brain 2003;126:1722‑33.
              Hadjigeorgiou GM, Hardy J, Singleton AB. Association of tau   91.  Periquet M, Latouche M, Lohmann E, Rawal N, De Michele G,
              haplotype‑tagging polymorphisms with Parkinson’s disease in   Ricard  S,  Teive  H,  Fraix  V,  Vidailhet  M,  Nicholl  D,  Barone  P,
              diverse ethnic Parkinson’s disease cohorts.  Neurodegener Dis   Wood NW, Raskin S, Deleuze JF, Agid Y, Dürr A, Brice A; French
              2006;3:327‑33.                                      Parkinson’s Disease Genetics Study Group; European Consortium
           75.  Beutler E. Gaucher disease: new molecular approaches to diagnosis   on Genetic Susceptibility in Parkinson’s Disease. Parkin mutations
              and treatment. Science 1992;256:794‑9.              are frequent in patients with isolated early‑onset parkinsonism. Brain
           76.  Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease:   2003;126:1271‑8.
              mutation and polymorphism spectrum in the glucocerebrosidase   92.  Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J,
              gene (GBA). Hum Mutat 2008;29:567‑83.               Meija‑Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE,
           77.  Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K,   Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ,
              Rosenbaum H, Schiffmann R, Bembi B, Sidransky E. Gaucher   Pramstaller PP, Klein C, Kramer P. Distribution, type, and origin
              disease with parkinsonian manifestations: does glucocerebrosidase   of Parkin mutations: review and case studies.  Mov Disord
              deficiency contribute to a vulnerability to parkinsonism? Mol Genet   2004;19:1146‑57.
              Metab 2003;79:104‑9.                            93.  Foroud T, Uniacke SK, Liu L, Pankratz N, Rudolph A, Halter C,
           78.  Lwin A, Orvisky E, Goker‑Alpan O, LaMarca ME, Sidransky E.   Shults C, Marder K, Conneally PM, Nichols WC; Parkinson Study
              Glucocerebrosidase mutations in subjects with parkinsonism. Mol   Group. Heterozygosity for a mutation in the parkin gene leads to
              Genet Metab 2004;81:70‑3.                           later onset Parkinson disease. Neurology 2003;60:796‑801.
           79.  Aharon‑Peretz J, Badarny S, Rosenbaum H, Gershoni‑Baruch R.   94.  Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA,
              Mutations in the glucocerebrosidase gene and Parkinson disease:   Golbe  LI, Mark  MH, Racette  BA, Perlmutter  JS, Parsian  A,
              phenotype‑genotype correlation. Neurology 2005;65:1460‑1.  Guttman  M,  Nicholson  G,  Xu  G,  Wilk  JB,  Saint‑Hilaire  MH,
           80.  Gan‑Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T,   DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N,
              Bar‑Shira A, Orr‑Urtreger A. Genotype‑phenotype correlations   Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB,
              between GBA mutations and Parkinson disease risk and onset.   Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P,
              Neurology 2008;70:2277‑83.                          Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of
           81.  Kalinderi  K, Bostantjopoulou  S, Paisan‑Ruiz  C, Katsarou  Z,   heterozygosity for parkin mutation on onset age in familial Parkinson
              Hardy  J, Fidani L. Complete screening for glucocerebrosidase   disease: the GenePD study. Arch Neurol 2006;63:826‑32.
              mutations in Parkinson disease patients from Greece. Neurosci Lett   95.  Kay  DM, Moran  D, Moses  L, Poorkaj  P,  Zabetian  CP,  Nutt  J,
              2009;452:87‑9.                                      Factor SA, Yu CE, Montimurro JS, Keefe RG, Schellenberg GD,
           82.  Neumann  J, Bras  J, Deas  E, O’Sullivan  SS, Parkkinen  L,   Payami H. Heterozygous parkin point mutations are as common
              Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B,   in control subjects as in Parkinson’s patients.  Ann Neurol
              Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW.   2007;61:47‑54.
              Glucocerebrosidase mutations in clinical and pathologically proven   96.  Chien  HF, Rohé CF, Costa  MD, Breedveld  GJ, Oostra  BA,
              Parkinson’s disease. Brain 2009;132:1783‑94.        Barbosa ER, Bonifati V. Early‑onset Parkinson’s disease caused by a
           83.  Spitz M, Rozenberg R, Pereira Lda V, Reis Barbosa E. Association   novel parkin mutation in a genetic isolate from north‑eastern Brazil.
              between Parkinson’s disease and glucocerebrosidase mutations in   Neurogenetics 2006;7:13‑9.
              Brazil. Parkinsonism Relat Disord 2008;14:58‑62.  97.  Periquet M, Lücking C, Vaughan J, Bonifati V, Dürr A, De Michele G,
           84.  Wan L, Hsu CM, Tsai CH, Lee CC, Hwu WL, Tsai FJ. Mutation   Horstink  M, Farrer  M, Illarioshkin  SN, Pollak  P, Borg  M,
              analysis of Gaucher disease patients in Taiwan: high prevalence   Brefel‑Courbon C, Denefle P, Meco G, Gasser T, Breteler MM,
              of  the  RecNciI  and  L444P  mutations.  Blood  Cells  Mol  Dis   Wood N, Agid Y, Brice A; French Parkinson’s Disease Genetics
              2006;36:422‑5.                                      Study Group. The European Consortium on Genetic Susceptibility
           85.  Tayebi  N, Stubblefield  BK, Park  JK, Orvisky  E, Walker  JM,   in Parkinson’s Disease. Origin of the mutations in the parkin gene
              LaMarca  ME, Sidransky  E. Reciprocal  and nonreciprocal   in Europe: exon rearrangements are independent recurrent events,
              recombination at the glucocerebrosidase gene region: implications for   whereas point mutations may result from founder effects. Am J Hum
              complexity in Gaucher disease. Am J Hum Genet 2003;72:519‑34.  Genet 2001;68:617‑26.
           86.  Sidransky  E, Nalls  MA, Aasly  JO, Aharon‑Peretz  J, Annesi  G,   98.  Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O,
              Barbosa ER, Bar‑Shira A, Berg D, Bras J, Brice A, Chen CM,   Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ,
              Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S,   Pramstaller PP, Klein C. The importance of gene dosage studies:
              Farrer MJ, Fung HC, Gan‑Or Z, Gasser T, Gershoni‑Baruch R,   mutational analysis of the parkin gene in early‑onset parkinsonism.
              Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE,   Hum Mol Genet 2001;10:1649‑56.
              Lee‑Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J,   99.  Pankratz  N, Kissell  DK, Pauciulo  MW, Halter  CA, Rudolph  A,
              Mizuta  I, Nicoletti  G, Oliveira  C, Ottman  R, Orr‑Urtreger  A,   Pfeiffer RF, Marder KS, Foroud T, Nichols WC; Parkinson Study
              Pereira  LV, Quattrone  A, Rogaeva  E, Rolfs  A, Rosenbaum  H,   Group‑PROGENI Investigators. Parkin dosage mutations have



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