125 related articles for article (PubMed ID: 22190321)
1. A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype.
Casasnovas C; Banchs I; De Jorge L; Antónia Albertí M; Martínez-Campo Y; Povedano M; Montero J; Volpini V
Muscle Nerve; 2012 Jan; 45(1):135-8. PubMed ID: 22190321
[TBL] [Abstract][Full Text] [Related]
2. 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
[TBL] [Abstract][Full Text] [Related]
3. [Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].
Pou Serradell A; Monells J; Téllez MJ; Fossas P; Löfgren A; Meuleman J; Timmerman V; De Jonghe P; Ceuterick C; Martin JJ
Rev Neurol (Paris); 2002 May; 158(5 Pt 1):579-88. PubMed ID: 12072826
[TBL] [Abstract][Full Text] [Related]
4. A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.
Zéphir H; Stojkovic T; Latour P; Hurtevent JF; Blankaert F; Vermersch P
Neuromuscul Disord; 2005 Jul; 15(7):493-7. PubMed ID: 15955700
[TBL] [Abstract][Full Text] [Related]
5. 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; 263(1-2):194-7. PubMed ID: 17707409
[TBL] [Abstract][Full Text] [Related]
6. A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.
Luigetti M; Conte A; Madia F; Mereu ML; Zollino M; Marangi G; Pomponi MG; Liberatore G; Tonali PA; Sabatelli M
Muscle Nerve; 2008 Aug; 38(2):1060-4. PubMed ID: 18642376
[TBL] [Abstract][Full Text] [Related]
7. 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; 64(7):974-8. PubMed ID: 17620487
[TBL] [Abstract][Full Text] [Related]
8. 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; 56(4):627-30. PubMed ID: 19830275
[TBL] [Abstract][Full Text] [Related]
9. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.
Nicholson GA; Valentijn LJ; Cherryson AK; Kennerson ML; Bragg TL; DeKroon RM; Ross DA; Pollard JD; McLeod JG; Bolhuis PA
Nat Genet; 1994 Mar; 6(3):263-6. PubMed ID: 8012388
[TBL] [Abstract][Full Text] [Related]
10. A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.
Thiel CT; Kraus C; Rauch A; Ekici AB; Rautenstrauss B; Reis A
Eur J Hum Genet; 2003 Feb; 11(2):170-8. PubMed ID: 12634865
[TBL] [Abstract][Full Text] [Related]
11. Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.
Cao W; Huang S; Zhao H; Li Z; Zhu X; Liu L; Zhang R
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2023 Oct; 48(10):1572-1582. PubMed ID: 38432886
[TBL] [Abstract][Full Text] [Related]
12. Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies.
Li J; Krajewski K; Lewis RA; Shy ME
Muscle Nerve; 2004 Feb; 29(2):205-10. PubMed ID: 14755484
[TBL] [Abstract][Full Text] [Related]
13. Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association.
Sanahuja J; Franco E; Rojas-García R; Gallardo E; Combarros O; Begué R; Granés P; Illa I
Arch Neurol; 2005 Dec; 62(12):1911-4. PubMed ID: 16344349
[TBL] [Abstract][Full Text] [Related]
14. Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison.
Hung CC; Lee CN; Lin CY; Cheng WF; Chen CA; Hsieh ST; Yang CC; Jong YJ; Su YN; Lin WL
Electrophoresis; 2008 Feb; 29(3):618-25. PubMed ID: 18200636
[TBL] [Abstract][Full Text] [Related]
15. Overview of hereditary neuropathy with liability to pressure palsies.
Chance PF
Ann N Y Acad Sci; 1999 Sep; 883():14-21. PubMed ID: 10586225
[TBL] [Abstract][Full Text] [Related]
16. 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
[TBL] [Abstract][Full Text] [Related]
17. 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
[TBL] [Abstract][Full Text] [Related]
18. Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies.
Canali E; Chiari A; Sola P; Fioravanti V; Valzania F; Pentore R; Nichelli P; Mandrioli J
Amyotroph Lateral Scler; 2010 May; 11(3):335-6. PubMed ID: 19437170
[TBL] [Abstract][Full Text] [Related]
19. A transgenic mouse model for human hereditary neuropathy with liability to pressure palsies.
Maycox PR; Ortuño D; Burrola P; Kuhn R; Bieri PL; Arrezo JC; Lemke G
Mol Cell Neurosci; 1997; 8(6):405-16. PubMed ID: 9143558
[TBL] [Abstract][Full Text] [Related]
20. [Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
Zhang FF; Tang BS; Shen Y; Zhao GH; Xia K; Zhao YQ; Chen B; Zhang C; Pan Q; Cai F; Liu XM; Luo W; Zhang RX; Guo P
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Oct; 22(5):537-40. PubMed ID: 16215943
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
