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Journal Abstract Search

221 related items for PubMed ID: 15732094

  • 1. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
    Auer-Grumbach M, Schlotter-Weigel B, Lochmüller H, Strobl-Wildemann G, Auer-Grumbach P, Fischer R, Offenbacher H, Zwick EB, Robl T, Hartl G, Hartung HP, Wagner K, Windpassinger C, Austrian Peripheral Neuropathy Study Group.
    Ann Neurol; 2005 Mar; 57(3):415-24. PubMed ID: 15732094
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  • 8. [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; 47(6):329-35. PubMed ID: 17633104
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  • 9. Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
    Ito D, Suzuki N.
    Brain; 2009 Jan; 132(Pt 1):8-15. PubMed ID: 18790819
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  • 10. Berardinelli-Seip congenital lipodystrophy.
    Mandal K, Aneja S, Seth A, Khan A.
    Indian Pediatr; 2006 May; 43(5):440-5. PubMed ID: 16735770
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  • 11. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
    Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H.
    Arch Neurol; 2005 Aug; 62(8):1201-7. PubMed ID: 16087758
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  • 12. 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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  • 13. Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
    Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.
    Brain; 2007 Apr; 130(Pt 4):1062-75. PubMed ID: 17347251
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  • 14. Clinical and electrophysiological features in a French family presenting with seipinopathy.
    Ollivier Y, Magot A, Latour P, Perrier J, Mercier S, Maisonobe T, Péréon Y.
    Neuromuscul Disord; 2015 Feb; 25(2):161-4. PubMed ID: 25454168
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  • 15. BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.
    Cen Z, Lu X, Wang Z, Ouyang Z, Xie F, Luo W.
    J Clin Neurosci; 2015 Feb; 22(2):429-30. PubMed ID: 25487175
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  • 16. Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series.
    Pennisi M, Raggi A, Barone R, Muglia M, Citrigno L, Cantone M, Lanza G, Pennisi G, Ferri R, Bella R.
    Acta Neurol Belg; 2012 Mar; 112(1):57-64. PubMed ID: 22427291
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  • 17. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
    Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG.
    Brain; 2005 Oct; 128(Pt 10):2304-14. PubMed ID: 16014653
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  • 18. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
    Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L, Nicholson G, Pareyson D, Laurà M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M.
    J Neurol Sci; 2007 Dec 15; 263(1-2):100-6. PubMed ID: 17663003
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  • 19. Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies.
    Geraldes R, de Carvalho M, Santos-Bento M, Nicholson G.
    J Neurol Sci; 2004 Dec 15; 227(1):35-8. PubMed ID: 15546589
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  • 20. Membrane topology of the human seipin protein.
    Lundin C, Nordström R, Wagner K, Windpassinger C, Andersson H, von Heijne G, Nilsson I.
    FEBS Lett; 2006 Apr 17; 580(9):2281-4. PubMed ID: 16574104
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