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Journal Abstract Search

271 related items for PubMed ID: 15477516

  • 1. 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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  • 2. 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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  • 3. Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.
    Chan KY, Ching CK, Mak CM, Lam CW, Chan AY.
    Hong Kong Med J; 2009 Aug; 15(4):304-7. PubMed ID: 19652243
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  • 4. 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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  • 5. 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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  • 6. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.
    Rainier S, Sher C, Reish O, Thomas D, Fink JK.
    Arch Neurol; 2006 Mar 15; 63(3):445-7. PubMed ID: 16533974
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  • 11. 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. 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 15; 252(8):901-3. PubMed ID: 15742100
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  • 19. Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.
    Hamamie-Chaar A, Renaud M, Gençpinar P, Bruel AL, Philippe C, Maraval J, Racine C, Hadouiri N, Lambert L, Schmitt E, Banneau G, Hocquel A, Thauvin-Robinet C, Faivre L, Thomas Q.
    J Neurol; 2024 Sep 15; 271(9):6343-6348. PubMed ID: 39003427
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