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How much phenotypic variation can be attributed to parkin genotype?
Lohmann E, Periquet M, Bonifati V, Wood NW, De Michele G, Bonnet AM, Fraix V, Broussolle E, Horstink MW, Vidailhet M, Verpillat P, Gasser T, Nicholl D, Teive H, Raskin S, Rascol O, Destée A, Ruberg M, Gasparini F, Meco G, Agid Y, Durr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Lohmann E, et al. Among authors: horstink mw. Ann Neurol. 2003 Aug;54(2):176-85. doi: 10.1002/ana.10613. Ann Neurol. 2003. PMID: 12891670
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.
Rawal N, Periquet M, Lohmann E, Lücking CB, Teive HA, Ambrosio G, Raskin S, Lincoln S, Hattori N, Guimaraes J, Horstink MW, Dos Santos Bele W, Brousolle E, Destée A, Mizuno Y, Farrer M, Deleuze JF, De Michele G, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Rawal N, et al. Among authors: horstink mw. Neurology. 2003 Apr 22;60(8):1378-81. doi: 10.1212/01.wnl.0000056167.89221.be. Neurology. 2003. PMID: 12707451
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
Periquet M, Lücking C, Vaughan J, Bonifati V, Dürr A, De Michele G, Horstink M, Farrer M, Illarioshkin SN, Pollak P, Borg M, Brefel-Courbon C, Denefle P, Meco G, Gasser T, Breteler MM, Wood N, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group. The European Consortium on Genetic Susceptibility in Parkinson's Disease. Periquet M, et al. Am J Hum Genet. 2001 Mar;68(3):617-26. doi: 10.1086/318791. Epub 2001 Feb 14. Am J Hum Genet. 2001. PMID: 11179010 Free PMC article.
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA; Italian Parkinson Genetics Network. Bonifati V, et al. Among authors: horstink mw. Neurology. 2005 Jul 12;65(1):87-95. doi: 10.1212/01.wnl.0000167546.39375.82. Neurology. 2005. PMID: 16009891
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.
Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, Oostra BA, Barbosa ER; Italian Parkinson Genetics Network; Bonifati V. Di Fonzo A, et al. Among authors: horstink mw. Neurology. 2007 May 8;68(19):1557-62. doi: 10.1212/01.wnl.0000260963.08711.08. Neurology. 2007. PMID: 17485642
Parkin gene related neuronal multisystem disorder.
Horstink MW, van de Warrenburg BP, Lammens M, Brice A. Horstink MW, et al. J Neurol Neurosurg Psychiatry. 2002 Mar;72(3):419-20. doi: 10.1136/jnnp.72.3.419. J Neurol Neurosurg Psychiatry. 2002. PMID: 11861718 Free PMC article. No abstract available.
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.
Di Fonzo A, Dekker MC, Montagna P, Baruzzi A, Yonova EH, Correia Guedes L, Szczerbinska A, Zhao T, Dubbel-Hulsman LO, Wouters CH, de Graaff E, Oyen WJ, Simons EJ, Breedveld GJ, Oostra BA, Horstink MW, Bonifati V. Di Fonzo A, et al. Among authors: horstink mw. Neurology. 2009 Jan 20;72(3):240-5. doi: 10.1212/01.wnl.0000338144.10967.2b. Epub 2008 Nov 26. Neurology. 2009. PMID: 19038853
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.
van Duijn CM, Dekker MC, Bonifati V, Galjaard RJ, Houwing-Duistermaat JJ, Snijders PJ, Testers L, Breedveld GJ, Horstink M, Sandkuijl LA, van Swieten JC, Oostra BA, Heutink P. van Duijn CM, et al. Am J Hum Genet. 2001 Sep;69(3):629-34. doi: 10.1086/322996. Epub 2001 Jul 2. Am J Hum Genet. 2001. PMID: 11462174 Free PMC article.
112 results