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Journal Abstract Search


316 related items for PubMed ID: 26110377

  • 1. Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.
    Karadima G, Koutsis G, Raftopoulou M, Karletidi KM, Zambelis T, Karandreas N, Panas M.
    J Peripher Nerv Syst; 2015 Jun; 20(2):79-85. PubMed ID: 26110377
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  • 3. Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation.
    Yurrebaso I, Casado OL, Barcena J, Perez de Nanclares G, Aguirre U.
    Neuromuscul Disord; 2014 Jan; 24(1):56-62. PubMed ID: 24239057
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  • 4. Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
    Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM.
    Brain; 2011 Feb; 134(Pt 2):608-17. PubMed ID: 21252112
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  • 5. A New Point Mutation in the PMP22 Gene in a Family Suffering From Atypical HNPP.
    Benquey T, Fockens E, Kouton L, Delmont E, Martini N, Levy N, Attarian S, Bonello-Palot N.
    J Neuromuscul Dis; 2020 Feb; 7(4):505-510. PubMed ID: 32538861
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  • 6. [Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].
    Asadchuk TV, Rumiantseva NV, Naumchik IV, Likhachev SA, Pleshko IV, Shalkevich LV, Jevneronok IV, Kachan JP.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2016 Feb; 116(1):64-69. PubMed ID: 26977628
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  • 7. Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.
    Fusco C, Spagnoli C, Salerno GG, Pavlidis E, Frattini D, Pisani F.
    Ital J Pediatr; 2017 Oct 27; 43(1):97. PubMed ID: 29078790
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  • 8. Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
    Resko P, Radvansky J, Odnogova Z, Baldovic M, Minarik G, Polakova H, Palffy R, Kadasi L.
    Gen Physiol Biophys; 2011 Dec 27; 30(4):379-88. PubMed ID: 22131320
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  • 10. Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis.
    Beydoun SR, Cho J.
    J Clin Neuromuscul Dis; 2013 Sep 27; 15(1):28-33. PubMed ID: 23965407
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  • 11. A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.
    Moszyńska I, Kabzińska D, Sinkiewicz-Darol E, Kochański A.
    Acta Biochim Pol; 2009 Sep 27; 56(4):627-30. PubMed ID: 19830275
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  • 12. A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
    Muglia M, Patitucci A, Rizzi R, Ungaro C, Conforti FL, Gabriele AL, Magariello A, Mazzei R, Motti L, Sabadini R, Sprovieri T, Marcello N, Quattrone A.
    J Neurol Sci; 2007 Dec 15; 263(1-2):194-7. PubMed ID: 17707409
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  • 13. Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.
    Sutton IJ, Mocroft AP, Lindley VH, Barber RM, Bryon RJ, Winer JB, MacDonald F.
    Neuromuscul Disord; 2004 Dec 15; 14(12):804-9. PubMed ID: 15564036
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  • 14. Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population.
    Park JE, Noh SJ, Oh M, Cho DY, Kim SY, Ki CS.
    Orphanet J Rare Dis; 2018 Mar 15; 13(1):40. PubMed ID: 29544507
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  • 15. [Hereditary neuropathy with liability to pressure palsies in childhood: Report of three cases].
    Bar C, Villéga F, Espil C, Husson M, Pedespan JM, Rouanet MF.
    Arch Pediatr; 2017 Mar 15; 24(3):260-262. PubMed ID: 28131554
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  • 16. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
    Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA.
    Arch Neurol; 2007 Jul 15; 64(7):974-8. PubMed ID: 17620487
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  • 17. Overlap phenotype between CMT1A and hereditary neuropathy with liability to pressure palsies caused by the novel small in-frame deletion c.407_418del12 in PMP22 gene.
    Vill K, Kuhn M, Gläser D, Müller-Felber W.
    Neuropediatrics; 2015 Feb 15; 46(1):44-8. PubMed ID: 25265422
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  • 18. Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.
    Potulska-Chromik A, Sinkiewicz-Darol E, Ryniewicz B, Lipowska M, Kabzińska D, Kochański A, Kostera-Pruszczyk A.
    Muscle Nerve; 2014 Dec 15; 50(6):914-8. PubMed ID: 24668782
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  • 19. Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update.
    Chrestian N, McMillan H, Poulin C, Campbell C, Vajsar J.
    Neuromuscul Disord; 2015 Sep 15; 25(9):693-8. PubMed ID: 26189194
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  • 20. [Analysis of the clinical, electrophysiological and genetic features of a family affected with hereditary neuropathy with liability to pressure palsies].
    Qi F, Che F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb 15; 32(1):31-5. PubMed ID: 25636095
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