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Journal Abstract Search

127 related items for PubMed ID: 15742100

  • 1. 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
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  • 2. 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
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  • 3. 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
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  • 4. Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.
    Al-Maawali A, Rolfs A, Klingenhaeger M, Yoon G.
    J Clin Neuromuscul Dis; 2011 Mar; 12(3):143-6. PubMed ID: 21321493
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  • 6. 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
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  • 7. Hereditary spastic paraplegia 3A associated with axonal neuropathy.
    Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámecník J, Ceulemans B, Erichsen AK, Björck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, De Jonghe P.
    Arch Neurol; 2007 May; 64(5):706-13. PubMed ID: 17502470
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  • 12. 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 15; 216(1):43-5. PubMed ID: 14607301
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  • 13. 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 15; 75(5):485-9. PubMed ID: 19459885
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  • 15. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
    Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A.
    Arch Neurol; 2004 Dec 15; 61(12):1867-72. PubMed ID: 15596607
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  • 18. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.
    Namekawa M, Ribai P, Nelson I, Forlani S, Fellmann F, Goizet C, Depienne C, Stevanin G, Ruberg M, Dürr A, Brice A.
    Neurology; 2006 Jan 10; 66(1):112-4. PubMed ID: 16401858
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