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Journal Abstract Search

128 related items for PubMed ID: 10493830

  • 1. A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia.
    Hazan J, Davoine CS, Mavel D, Fonknechten N, Paternotte C, Fizames C, Cruaud C, Samson D, Muselet D, Vega-Czarny N, Brice A, Gyapay G, Heilig R, Fontaine B, Weissenbach J.
    Genomics; 1999 Sep 15; 60(3):309-19. PubMed ID: 10493830
    [Abstract] [Full Text] [Related]

  • 2. Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation.
    Del-Favero J, Goossens D, De Jonghe P, Benson K, Michalik A, Van den Bossche D, Horwitz M, Van Broeckhoven C.
    Hum Genet; 1999 Sep 15; 105(3):217-25. PubMed ID: 10987648
    [Abstract] [Full Text] [Related]

  • 3. A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2.
    Lo Nigro C, Cusano R, Scaranari M, Cinti R, Forabosco P, Morra VB, De Michele G, Santoro L, Davies S, Hurst J, Devoto M, Ravazzolo R, Seri M.
    Eur J Hum Genet; 2000 Oct 15; 8(10):777-82. PubMed ID: 11039578
    [Abstract] [Full Text] [Related]

  • 4. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.
    Schüle R, Bonin M, Dürr A, Forlani S, Sperfeld AD, Klimpe S, Mueller JC, Seibel A, van de Warrenburg BP, Bauer P, Schöls L.
    Neurology; 2009 Jun 02; 72(22):1893-8. PubMed ID: 19357379
    [Abstract] [Full Text] [Related]

  • 5. Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.
    Paternotte C, Rudnicki D, Fizames C, Davoine CS, Mavel D, Dürr A, Samson D, Marquette C, Muselet D, Vega-Czarny N, Drouot N, Voit T, Fontaine B, Gyapay G, Auburger G, Weissenbach J, Hazan J.
    Genome Res; 1998 Nov 02; 8(11):1216-27. PubMed ID: 9847083
    [Abstract] [Full Text] [Related]

  • 6. No evidence for long CAG/CTG repeats in families with spastic paraplegia linked to chromosome 2p21-24.
    Zander C, Yuan QP, Lindblad K, Stevanin G, Dürr A, Davoine CS, Hazan J, Fontaine B, Brice A, Schalling M.
    Neurosci Lett; 2000 Jan 21; 279(1):41-4. PubMed ID: 10670783
    [Abstract] [Full Text] [Related]

  • 7. Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.
    Fink JK, Hedera P.
    Semin Neurol; 1999 Jan 21; 19(3):301-9. PubMed ID: 12194386
    [Abstract] [Full Text] [Related]

  • 8. [AAA ATPases and hereditary spastic paraplegia].
    Wang YG, Shen L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun 21; 26(3):298-301. PubMed ID: 19504443
    [Abstract] [Full Text] [Related]

  • 9. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.
    Nielsen JE, Koefoed P, Kjaergaard S, Jensen LN, Nørremølle A, Hasholt L.
    Prenat Diagn; 2004 May 21; 24(5):363-6. PubMed ID: 15164410
    [Abstract] [Full Text] [Related]

  • 10. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.
    Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK.
    Nat Genet; 2001 Nov 21; 29(3):326-31. PubMed ID: 11685207
    [Abstract] [Full Text] [Related]

  • 11. Sequence-ready contig for the 1.4-cM ductal carcinoma in situ loss of heterozygosity region on chromosome 8p22-p23.
    Wang JC, Radford DM, Holt MS, Helms C, Goate A, Brandt W, Parik M, Phillips NJ, DeSchryver K, Schuh ME, Fair KL, Ritter JH, Marshall P, Donis-Keller H.
    Genomics; 1999 Aug 15; 60(1):1-11. PubMed ID: 10458905
    [Abstract] [Full Text] [Related]

  • 12. Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
    Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A.
    Eur J Hum Genet; 2000 Oct 15; 8(10):771-6. PubMed ID: 11039577
    [Abstract] [Full Text] [Related]

  • 13. A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
    Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS.
    Chin Med J (Engl); 2008 Mar 05; 121(5):430-4. PubMed ID: 18364116
    [Abstract] [Full Text] [Related]

  • 14. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
    Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G.
    Ann Neurol; 2005 Apr 05; 57(4):567-71. PubMed ID: 15786464
    [Abstract] [Full Text] [Related]

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  • 16. A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.
    Machado RD, Pauciulo MW, Fretwell N, Veal C, Thomson JR, Vilariño Güell C, Aldred M, Brannon CA, Trembath RC, Nichols WC.
    Genomics; 2000 Sep 01; 68(2):220-8. PubMed ID: 10964520
    [Abstract] [Full Text] [Related]

  • 17. No evidence for the involvement of CAG/CTG repeats from within 18q21.33-q23 in bipolar disorder.
    Goossens D, Villafuerte S, Tissir F, Van Gestel S, Claes S, Souery D, Massat I, Van den Bossche D, Van Zand K, Mendlewicz J, Van Broeckhoven C, Del-Favero J.
    Eur J Hum Genet; 2000 May 01; 8(5):385-8. PubMed ID: 10854100
    [Abstract] [Full Text] [Related]

  • 18. A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes.
    Kuhlenbäumer G, Schirmacher A, Meuleman J, Tissir F, Del-Favero J, Stögbauer F, Young P, Ringelstein B, Van Broeckhoven C, Timmerman V.
    Genomics; 1999 Dec 01; 62(2):242-50. PubMed ID: 10610718
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  • 20. Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance.
    Byrne PC, Webb S, McSweeney F, Burke T, Hutchinson M, Parfrey NA.
    Eur J Hum Genet; 1998 Dec 01; 6(3):275-82. PubMed ID: 9781032
    [Abstract] [Full Text] [Related]

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