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Journal Abstract Search

138 related items for PubMed ID: 18612770

  • 1. The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation.
    Cafforio G, Calabrese R, Morelli N, Mancuso M, Piazza S, Martinuzzi A, Bassi MT, Crippa F, Siciliano G.
    Neurol Sci; 2008 Jun; 29(3):189-91. PubMed ID: 18612770
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  • 3. BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
    van de Warrenburg BP, Scheffer H, van Eijk JJ, Versteeg MH, Kremer H, Zwarts MJ, Schelhaas HJ, van Engelen BG.
    Neuromuscul Disord; 2006 Feb; 16(2):122-5. PubMed ID: 16427281
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  • 5. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
    Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K.
    Nat Genet; 2004 Mar; 36(3):271-6. PubMed ID: 14981520
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  • 6. Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.
    Luigetti M, Fabrizi GM, Madia F, Ferrarini M, Conte A, Delgrande A, Tonali PA, Sabatelli M.
    Muscle Nerve; 2010 Sep; 42(3):448-51. PubMed ID: 20806400
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  • 8. Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes.
    Brugman F, Scheffer H, Schelhaas HJ, Nillesen WM, Wokke JH, van de Warrenburg BP, van den Berg LH.
    J Neurol; 2009 May; 256(5):824-6. PubMed ID: 19252810
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  • 9. ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.
    Musacchio T, Zaum AK, Üçeyler N, Sommer C, Pfeifroth N, Reiners K, Kunstmann E, Volkmann J, Rost S, Klebe S.
    J Neurol; 2017 Jan; 264(1):11-20. PubMed ID: 27738760
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  • 10. N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
    Rakocević-Stojanović V, Milić-Rasić V, Perić S, Baets J, Timmerman V, Dierick I, Pavlović S, De Jonghe P.
    J Neurol Sci; 2010 Sep 15; 296(1-2):107-9. PubMed ID: 20598714
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  • 14. [Seipin/BSCL2-related motor neuron disease: Seipinopathy is a novel conformational disease associated with endoplasmic reticulum stress].
    Ito D, Suzuki N.
    Rinsho Shinkeigaku; 2007 Jun 15; 47(6):329-35. PubMed ID: 17633104
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  • 15. Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.
    Haberlová J, Claeys KG, Zámecník J, De Jonghe P, Seeman P.
    J Neurol; 2008 Jun 15; 255(6):927-8. PubMed ID: 18446315
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  • 16. Complex phenotype in an Italian family with a novel mutation in SPG3A.
    de Leva MF, Filla A, Criscuolo C, Tessa A, Pappatà S, Quarantelli M, Bilo L, Peluso S, Antenora A, Longo D, Santorelli FM, De Michele G.
    J Neurol; 2010 Mar 15; 257(3):328-31. PubMed ID: 19768483
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  • 17. Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.
    Fernández-Eulate G, Fernández-Torrón R, Guisasola A, Gaspar MTI, Diaz-Manera J, Maneiro M, Zulaica M, Olasagasti V, Formica AF, Espinal JB, Ruiz M, Schlüter A, Pujol A, Poza JJ, López de Munain A.
    Eur J Neurol; 2020 Aug 15; 27(8):1364-1373. PubMed ID: 32320108
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  • 20. A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
    Brusse E, Majoor-Krakauer D, de Graaf BM, Visser GH, Swagemakers S, Boon AJ, Oostra BA, Bertoli-Avella AM.
    Neurogenetics; 2009 Oct 15; 10(4):289-97. PubMed ID: 19396477
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