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Items: 1 to 20 of 103

1.

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.

Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL, Al-Din A, Woods CG.

J Med Genet. 2001 Oct;38(10):680-2.

2.

Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.

Najim al-Din AS, Wriekat A, Mubaidin A, Dasouki M, Hiari M.

Acta Neurol Scand. 1994 May;89(5):347-52.

PMID:
8085432
3.

Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.

Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ.

Mov Disord. 2005 Oct;20(10):1264-71.

PMID:
15986421
4.

Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21.

Wijker M, Wszolek ZK, Wolters EC, Rooimans MA, Pals G, Pfeiffer RF, Lynch T, Rodnitzky RL, Wilhelmsen KC, Arwert F.

Hum Mol Genet. 1996 Jan;5(1):151-4.

5.

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.

Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE.

Mol Genet Metab. 2001 Dec;74(4):458-75.

PMID:
11749051
6.

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

Schuermann MJ, Otto E, Becker A, Saar K, Rüschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nürnberg P, Hildebrandt F.

Am J Hum Genet. 2002 May;70(5):1240-6. Epub 2002 Mar 27.

7.

Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease.

Martinez M, Brice A, Vaughan JR, Zimprich A, Breteler MM, Meco G, Filla A, Farrer MJ, Bétard C, Hardy J, De Michele G, Bonifati V, Oostra B, Gasser T, Wood NW, Dürr A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease.

J Med Genet. 2004 Dec;41(12):900-7.

8.

A susceptibility gene for late-onset idiopathic Parkinson's disease.

Hicks AA, Pétursson H, Jónsson T, Stefánsson H, Jóhannsdóttir HS, Sainz J, Frigge ML, Kong A, Gulcher JR, Stefánsson K, Sveinbjörnsdóttir S.

Ann Neurol. 2002 Nov;52(5):549-55.

PMID:
12402251
9.

A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1.

Funayama M, Hasegawa K, Kowa H, Saito M, Tsuji S, Obata F.

Ann Neurol. 2002 Mar;51(3):296-301.

PMID:
11891824
10.

Infantile bilateral striatal necrosis maps to chromosome 19q.

Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M.

Neurology. 2004 Jan 13;62(1):87-90.

PMID:
14718703
11.

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW.

Hum Genet. 2003 Jul;113(1):1-9. Epub 2003 Apr 3.

PMID:
12677423
12.

Familial multisystem atrophy with possible thalamic dementia.

Katz DA, Naseem A, Horoupian DS, Rothner AD, Davies P.

Neurology. 1984 Sep;34(9):1213-7.

PMID:
6540407
13.

Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.

Al-Kateb H, Bähring S, Hoffmann K, Strauch K, Busjahn A, Nürnberg G, Jouma M, Bautz EK, Dresel HA, Luft FC.

Circ Res. 2002 May 17;90(9):951-8.

14.

Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.

Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG.

Am J Hum Genet. 1994 Dec;55(6):1159-65.

15.

Amish brittle hair syndrome gene maps to 7p14.1.

Seboun E, Lemainque A, Jackson CE.

Am J Med Genet A. 2005 Apr 30;134(3):290-4.

PMID:
15723315
16.

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
17.

[Linkage analysis of susceptibility genes for familial schizophrenia on chromosome 1 in Chinese population].

Cai G, Wu X, Li T, Collier DA, Liu X, Feng B, Deng H, Tong D, Li J, Ou J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Dec;19(6):491-4. Chinese.

PMID:
12476422
18.

New form of familial Parkinson-dementia syndrome: clinical and pathologic findings.

Mata M, Dorovini-Zis K, Wilson M, Young AB.

Neurology. 1983 Nov;33(11):1439-43.

PMID:
6685236
19.

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.

Burdon KP, Coster DJ, Charlesworth JC, Mills RA, Laurie KJ, Giunta C, Hewitt AW, Latimer P, Craig JE.

Hum Genet. 2008 Nov;124(4):379-86. doi: 10.1007/s00439-008-0555-z. Epub 2008 Sep 5.

PMID:
18795334
20.

PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.

DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine AL, Labelle N, Growdon JH, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella JF, Myers RH.

Am J Hum Genet. 2002 May;70(5):1089-95. Epub 2002 Mar 27.

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