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Items: 1 to 20 of 217

1.

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.

Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, Albanese A, Wood NW.

Am J Hum Genet. 2001 Apr;68(4):895-900. Epub 2001 Mar 7.

2.

PARK6 is a common cause of familial parkinsonism.

Valente EM, Brancati F, Caputo V, Graham EA, Davis MB, Ferraris A, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease..

Neurol Sci. 2002 Sep;23 Suppl 2:S117-8.

PMID:
12548371
3.

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.

Am J Hum Genet. 2001 Sep;69(3):629-34. Epub 2001 Jul 2.

4.

PARK6-linked parkinsonism occurs in several European families.

Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease..

Ann Neurol. 2002 Jan;51(1):14-8.

PMID:
11782979
5.

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.

Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ.

Ann Neurol. 2000 Jul;48(1):65-71.

PMID:
10894217
6.

Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families.

Bentivoglio AR, Cortelli P, Valente EM, Ialongo T, Ferraris A, Elia A, Montagna P, Albanese A.

Mov Disord. 2001 Nov;16(6):999-1006.

PMID:
11748730
7.

Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset.

Bonifati V, Breedveld GJ, Squitieri F, Vanacore N, Brustenghi P, Harhangi BS, Montagna P, Cannella M, Fabbrini G, Rizzu P, van Duijn CM, Oostra BA, Meco G, Heutink P.

Ann Neurol. 2002 Feb;51(2):253-6.

PMID:
11835383
8.

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

Abbas N, Lücking CB, Ricard S, Dürr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E, Böhme GA, Pradier L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A.

Hum Mol Genet. 1999 Apr;8(4):567-74.

PMID:
10072423
9.

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

Myhre R, Steinkjer S, Stormyr A, Nilsen GL, Abu Zayyad H, Horany K, Nusier MK, Klungland H.

BMC Neurol. 2008 Dec 16;8:47. doi: 10.1186/1471-2377-8-47.

10.

Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene.

Nisipeanu P, Inzelberg R, Blumen SC, Carasso RL, Hattori N, Matsumine H, Mizuno Y.

Neurology. 1999 Oct 22;53(7):1602-4.

PMID:
10534280
11.

PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations.

Hatano Y, Sato K, Elibol B, Yoshino H, Yamamura Y, Bonifati V, Shinotoh H, Asahina M, Kobayashi S, Ng AR, Rosales RL, Hassin-Baer S, Shinar Y, Lu CS, Chang HC, Wu-Chou YH, Ataç FB, Kobayashi T, Toda T, Mizuno Y, Hattori N.

Neurology. 2004 Oct 26;63(8):1482-5.

PMID:
15505170
12.

Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region.

Jones AC, Yamamura Y, Almasy L, Bohlega S, Elibol B, Hubble J, Kuzuhara S, Uchida M, Yanagi T, Weeks DE, Nygaard TG.

Am J Hum Genet. 1998 Jul;63(1):80-7.

13.

Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals.

Hattori N, Kitada T, Matsumine H, Asakawa S, Yamamura Y, Yoshino H, Kobayashi T, Yokochi M, Wang M, Yoritaka A, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y.

Ann Neurol. 1998 Dec;44(6):935-41.

PMID:
9851438
14.

Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.

Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T; Parkinson Study Group..

Am J Hum Genet. 2002 Jul;71(1):124-35. Epub 2002 Jun 7.

15.

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.

De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S.

Am J Hum Genet. 1998 Jul;63(1):135-9.

16.

Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.

Bonifati V, Dekker MC, Vanacore N, Fabbrini G, Squitieri F, Marconi R, Antonini A, Brustenghi P, Dalla Libera A, De Mari M, Stocchi F, Montagna P, Gallai V, Rizzu P, van Swieten JC, Oostra B, van Duijn CM, Meco G, Heutink P; Italian Parkinson Genetics Network..

Neurol Sci. 2002 Sep;23 Suppl 2:S59-60.

PMID:
12548343
17.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG).; International Parkinson's Disease Genomics Consortium (IPDGC)..

Am J Hum Genet. 2016 Mar 3;98(3):500-13. doi: 10.1016/j.ajhg.2016.01.014.

18.

The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

Bonifati V, De Michele G, Lücking CB, Dürr A, Fabrizio E, Ambrosio G, Vanacore N, De Mari M, Marconi R, Capus L, Breteler MM, Gasser T, Oostra B, Wood N, Agid Y, Filla A, Meco G, Brice A; Italian PD Genetics Study Group, French PD Genetics Study Group, European Consortium on Genetic Susceptibility in PD..

Neurol Sci. 2001 Feb;22(1):51-2.

PMID:
11487197
19.

Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.

Muñoz E, Tolosa E, Pastor P, Martí MJ, Valldeoriola F, Campdelacreu J, Oliva R.

J Neurol Neurosurg Psychiatry. 2002 Nov;73(5):582-4.

20.

Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism.

Matsumine H, Yamamura Y, Kobayashi T, Nakamura S, Kuzuhara S, Mizuno Y.

Neurology. 1998 May;50(5):1340-5.

PMID:
9595984

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