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Publications
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Lücking CB, Abbas N, Dürr A, Bonifati V, Bonnet AM, de Broucker T, De Michele G, Wood NW, Agid Y, Brice A. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. Lancet 352: 1355-6, 1998 (PubMed ID: 9802278) |
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PARK2:
(ex3del (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
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ID: 204 | |
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Tassin J, Dürr A, Bonnet AM, Gil R, Vidailhet M, Lücking CB, Goas JY, Durif F, Abada M, Echenne B, Motte J, Lagueny A, Lacomblez L, Jedynak P, Bartholomé B, Agid Y, Brice A. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?. Brain 123: 1112-21, 2000 (PubMed ID: 10825351) |
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PARK2:
(ex3del (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
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ID: 228 | |
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Hoenicka J, Vidal L, Morales B, Ampuero I, Jiménez-Jiménez FJ, Berciano J, del Ser T, Jiménez A, Ruíz PG, de Yébenes JG. Molecular findings in familial Parkinson disease in Spain. Arch Neurol 59: 966-70, 2002 (PubMed ID: 12056932) |
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PARK2:
(ex3del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(Asn52fs)
(Val56Glu)
(Cys212Tyr)
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ID: 223 | |
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Nichols WC, Pankratz N, Uniacke SK, Pauciulo MW, Halter C, Rudolph A, Conneally PM, Foroud T. Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families. J Med Genet 39: 489-92, 2002 (PubMed ID: 12114481) |
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PARK2:
(ex2-3dup (breakpoints not mapped))
(ex2-4del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4-6del (breakpoints not mapped))
(ex5dup (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex7dup (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(ex8dup (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(Asn52fs)
(Pro113fs / ex3 Δ40bp)
(Lys211Asn)
(Arg275Trp)
(Pro437Leu)
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ID: 235 | |
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Foroud T, Uniacke SK, Liu L, Pankratz N, Rudolph A, Halter C, Shults C, Marder K, Conneally PM, Nichols WC; Parkinson Study Group. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 60: 796-801, 2003 (PubMed ID: 12629236) |
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PARK2:
(ex2-3del (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex4-6del (breakpoints not mapped))
(ex5dup (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex7del (breakpoints not mapped))
(ex7dup (breakpoints not mapped))
(ex8del (breakpoints not mapped))
(ex8dup (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(ex10del (breakpoints not mapped))
(ex10dup (breakpoints not mapped))
(Gln34fs)
(Glu79Stop)
(Pro113fs / ex3 Δ40bp)
(Ser167Asn)
(Met192Val)
(Lys211Asn)
(Thr240Met)
(Arg275Trp)
(Ala339)
(Pro437Leu)
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ID: 390 | |
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Madegowda RH, Kishore A, Anand A. Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease. J Neurol Neurosurg Psychiatry 76: 1588-90, 2005 (PubMed ID: 16227559) |
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PARK2:
(ex8-9del (breakpoints not mapped))
(Arg42His)
(Thr240Met)
(Arg334Cys)
(Ala339Ser)
(Gly359Asp)
(Glu444Gln)
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ID: 256 | |
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Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group.. A multidisciplinary study of patients with early-onset PD with and without parkin mutations. Neurology 72: 110-6, 2009 (PubMed ID: 18987353) |
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PARK2:
(prom+ex1del (breakpoints not mapped))
(ex3del (breakpoints not mapped))
(ex3dup (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-6del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex6dup (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(Gln34fs)
(Asn52fs)
(Arg275Trp)
(Cys441Arg)
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ID: 411 | |
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Pankratz N, Kissell DK, Pauciulo MW, Halter CA, Rudolph A, Pfeiffer RF, Marder KS, Foroud T, Nichols WC; Parkinson Study Group-PROGENI Investigators. Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations. Neurology 73: 279-86, 2009 (PubMed ID: 19636047) |
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PARK2:
(ex2del (breakpoints not mapped))
(ex2dup (breakpoints not mapped))
(ex2-3del (breakpoints not mapped))
(ex2-4dup (breakpoints not mapped))
(ex2-4trip (breakpoints not mapped))
(ex3-4del (breakpoints not mapped))
(ex3-6del (breakpoints not mapped))
(ex4del (breakpoints not mapped))
(ex4dup (breakpoints not mapped))
(ex4-5del (breakpoints not mapped))
(ex4-6del (breakpoints not mapped))
(ex5del (breakpoints not mapped))
(ex5-6del (breakpoints not mapped))
(ex5-8dup (breakpoints not mapped))
(ex6del (breakpoints not mapped))
(ex8-9del (breakpoints not mapped))
(Arg33Gln)
(Gln34fs)
(Asn52fs)
(Glu79Stop)
(Ala82Glu)
(Thr83Ala)
(Pro113fs / ex3 Δ40bp)
(Thr173Met)
(IVS4-9T>A)
(Met192Val)
(Lys211Asn)
(Thr240Met)
(Arg256Cys)
(Arg275Trp)
(Glu310Asp)
(IVS9+1delG)
(IVS9+5G>T)
(Gly430Asp)
(Pro437Leu)
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ID: 412 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
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