These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 21194679)

  • 1. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
    Guelly C; Zhu PP; Leonardis L; Papić L; Zidar J; Schabhüttl M; Strohmaier H; Weis J; Strom TM; Baets J; Willems J; De Jonghe P; Reilly MM; Fröhlich E; Hatz M; Trajanoski S; Pieber TR; Janecke AR; Blackstone C; Auer-Grumbach M
    Am J Hum Genet; 2011 Jan; 88(1):99-105. PubMed ID: 21194679
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
    Kornak U; Mademan I; Schinke M; Voigt M; Krawitz P; Hecht J; Barvencik F; Schinke T; Gießelmann S; Beil FT; Pou-Serradell A; Vílchez JJ; Beetz C; Deconinck T; Timmerman V; Kaether C; De Jonghe P; Hübner CA; Gal A; Amling M; Mundlos S; Baets J; Kurth I
    Brain; 2014 Mar; 137(Pt 3):683-92. PubMed ID: 24459106
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features.
    Leonardis L; Auer-Grumbach M; Papić L; Zidar J
    Eur J Neurol; 2012 Jul; 19(7):992-8. PubMed ID: 22340599
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.
    Hedera P; Fenichel GM; Blair M; Haines JL
    Arch Neurol; 2004 Oct; 61(10):1600-3. PubMed ID: 15477516
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.
    Smith BN; Bevan S; Vance C; Renwick P; Wilkinson P; Proukakis C; Squitieri F; Berardelli A; Warner TT; Reid E; Shaw CE
    Clin Genet; 2009 May; 75(5):485-9. PubMed ID: 19459885
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
    Park SH; Zhu PP; Parker RL; Blackstone C
    J Clin Invest; 2010 Apr; 120(4):1097-110. PubMed ID: 20200447
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
    Abel A; Fonknechten N; Hofer A; Dürr A; Cruaud C; Voit T; Weissenbach J; Brice A; Klimpe S; Auburger G; Hazan J
    Neurogenetics; 2004 Dec; 5(4):239-43. PubMed ID: 15517445
    [TBL] [Abstract][Full Text] [Related]  

  • 8. SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia.
    Wilkinson PA; Hart PE; Patel H; Warner TT; Crosby AH
    J Neurol Sci; 2003 Dec; 216(1):43-5. PubMed ID: 14607301
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.
    Fusco C; Frattini D; Farnetti E; Nicoli D; Casali B; Fiorentino F; Nuccitelli A; Giustina ED
    Brain Dev; 2010 Aug; 32(7):592-4. PubMed ID: 19735987
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.
    Zhu PP; Denton KR; Pierson TM; Li XJ; Blackstone C
    Hum Mol Genet; 2014 Nov; 23(21):5638-48. PubMed ID: 24908668
    [TBL] [Abstract][Full Text] [Related]  

  • 11. ATL3 gene mutation in a Chinese family with hereditary sensory neuropathy type 1F.
    Xu H; Zhang C; Cao L; Song J; Xu X; Zhang B; Chen B; Zhao G
    J Peripher Nerv Syst; 2019 Mar; 24(1):150-155. PubMed ID: 30680846
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
    Scarano V; Mancini P; Criscuolo C; De Michele G; Rinaldi C; Tucci T; Tessa A; Santorelli FM; Perretti A; Santoro L; Filla A
    J Neurol; 2005 Aug; 252(8):901-3. PubMed ID: 15742100
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
    Sauter SM; Engel W; Neumann LM; Kunze J; Neesen J
    Hum Mutat; 2004 Jan; 23(1):98. PubMed ID: 14695538
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.
    D'Amico A; Tessa A; Sabino A; Bertini E; Santorelli FM; Servidei S
    Neurology; 2004 Jun; 62(11):2138-9. PubMed ID: 15184642
    [No Abstract]   [Full Text] [Related]  

  • 15. Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.
    Muglia M; Magariello A; Nicoletti G; Patitucci A; Gabriele AL; Conforti FL; Mazzei R; Caracciolo M; Ardito B; Lastilla M; Tedeschi G; Quattrone A
    Ann Neurol; 2002 Jun; 51(6):794-5. PubMed ID: 12112092
    [No Abstract]   [Full Text] [Related]  

  • 16. Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.
    Rismanchi N; Soderblom C; Stadler J; Zhu PP; Blackstone C
    Hum Mol Genet; 2008 Jun; 17(11):1591-604. PubMed ID: 18270207
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development.
    Zhu PP; Soderblom C; Tao-Cheng JH; Stadler J; Blackstone C
    Hum Mol Genet; 2006 Apr; 15(8):1343-53. PubMed ID: 16537571
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia.
    Shin JW; Jung KH; Lee ST; Moon J; Seong MW; Park SS; Lee SK; Chu K
    Auton Neurosci; 2014 Oct; 185():141-3. PubMed ID: 24969372
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.
    Krols M; Detry S; Asselbergh B; Almeida-Souza L; Kremer A; Lippens S; De Rycke R; De Winter V; Müller FJ; Kurth I; McMahon HT; Savvides SN; Timmerman V; Janssens S
    Cell Rep; 2018 May; 23(7):2026-2038. PubMed ID: 29768202
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.
    Kwon MJ; Lee ST; Kim JW; Sung DH; Ki CS
    Ann Clin Lab Sci; 2010; 40(4):375-9. PubMed ID: 20947813
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.