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Journal Abstract Search

154 related items for PubMed ID: 26977628

  • 1.
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  • 2. 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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  • 4. 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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  • 6. Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed.
    Koehler PJ, Baas F.
    J Peripher Nerv Syst; 2012 Dec; 17(4):412-3. PubMed ID: 23279343
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  • 7. 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; 14(12):804-9. PubMed ID: 15564036
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  • 8. 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 Dec; 7(4):505-510. PubMed ID: 32538861
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  • 9. [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; 24(3):260-262. PubMed ID: 28131554
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  • 10. 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; 30(4):379-88. PubMed ID: 22131320
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  • 11. Hereditary neuropathy with liability to pressure palsy: two cases of difficult diagnosis.
    Beydoun SR, Cho J.
    J Clin Neuromuscul Dis; 2013 Sep; 15(1):28-33. PubMed ID: 23965407
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  • 12. Hereditary neuropathy with liability to pressure palsies occurring during military training.
    Delacour H, Bompaire F, Biale L, Sallansonnet-Froment M, Ceppa F, Burnat P.
    J R Army Med Corps; 2012 Mar; 158(1):47-9. PubMed ID: 22545374
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  • 13. Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion.
    Kim SM, Chung KW, Choi BO, Yoon ES, Choi JY, Park KD, Sunwoo IN.
    Exp Mol Med; 2004 Feb 29; 36(1):28-35. PubMed ID: 15031668
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  • 14. Analysis of PMP22 duplication and deletion using a panel of six dinucleotide tandem repeats.
    Gagic M, Markovic MK, Kecmanovic M, Keckarevic D, Mladenovic J, Dackovic J, Milic-Rasic V, Romac S.
    Clin Chem Lab Med; 2016 May 29; 54(5):773-80. PubMed ID: 26479344
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  • 15. 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 29; 25(9):693-8. PubMed ID: 26189194
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  • 16. 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 29; 46(1):44-8. PubMed ID: 25265422
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  • 17. Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.
    Brožková D, Mazanec R, Rychlý Z, Haberlová J, Böhm J, Staněk J, Plevová P, Lisoňová J, Sabová J, Sakmaryová I, Seeman P.
    Muscle Nerve; 2011 Nov 29; 44(5):819-22. PubMed ID: 22006697
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  • 18. Hereditary neuropathy with liability to pressure palsy: a brief review with a case report.
    Rana AQ, Masroor MS.
    Int J Neurosci; 2012 Mar 29; 122(3):119-23. PubMed ID: 22023293
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  • 19. 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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  • 20. 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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