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Journal Abstract Search

139 related items for PubMed ID: 25487175

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  • 23. 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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  • 26. More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.
    Chen S, Zou JL, He S, Li W, Zhang JW, Li SJ.
    Brain Behav; 2021 Dec; 11(12):e32395. PubMed ID: 34734492
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  • 28. Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation.
    Renvoisé B, Malone B, Falgairolle M, Munasinghe J, Stadler J, Sibilla C, Park SH, Blackstone C.
    Hum Mol Genet; 2016 Dec 01; 25(23):5111-5125. PubMed ID: 27638887
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  • 31. 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 01; 112(1):57-64. PubMed ID: 22427291
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  • 33. [BSCL2-related neurologic disorders/seipinopathy: endoplasmic reticulum stress in neurodegeneration].
    Ito D, Yagi T, Suzuki N.
    Rinsho Shinkeigaku; 2011 Nov 01; 51(11):1186-8. PubMed ID: 22277529
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  • 34. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.
    Miranda DM, Wajchenberg BL, Calsolari MR, Aguiar MJ, Silva JM, Ribeiro MG, Fonseca C, Amaral D, Boson WL, Resende BA, De Marco L.
    Clin Endocrinol (Oxf); 2009 Oct 01; 71(4):512-7. PubMed ID: 19226263
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  • 35. A case report of SPG11 mutations in a Chinese ARHSP-TCC family.
    Zhang L, McFarland KN, Jiao J, Jiao Y.
    BMC Neurol; 2016 Jun 03; 16():87. PubMed ID: 27256065
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  • 36. [Progressive spastic paraparesis and static syringomyelia: Silver syndrome/SPG17].
    Lafuente-Hidalgo M, Peña-Segura JL, Ranz-Angulo R, García-Oguiza A, Pérez-Delgado R, Izquierdo-Álvarez S, López-Pisón J.
    Rev Neurol; 2015 Aug 16; 61(4):188-91. PubMed ID: 26204091
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  • 37. 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 16; 61(10):1600-3. PubMed ID: 15477516
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  • 39. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
    Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A.
    Brain; 2016 Jan 16; 139(Pt 1):73-85. PubMed ID: 26556829
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