226 related articles for article (PubMed ID: 11140948)
1. Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies.
Aarskog NK; Vedeler CA
Hum Genet; 2000 Nov; 107(5):494-8. PubMed ID: 11140948
[TBL] [Abstract][Full Text] [Related]
2. Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye.
Kim SW; Lee KS; Jin HS; Lee TM; Koo SK; Lee YJ; Jung SC
J Korean Med Sci; 2003 Oct; 18(5):727-32. PubMed ID: 14555828
[TBL] [Abstract][Full Text] [Related]
3. [Molecular genetic diagnosis of Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies].
Aarskog NK; Vedeler CA
Tidsskr Nor Laegeforen; 2002 Feb; 122(4):382-5. PubMed ID: 11915667
[TBL] [Abstract][Full Text] [Related]
4. Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.
Choi JR; Lee WH; Sunwoo IN; Lee EK; Lee CH; Lim JB
Yonsei Med J; 2005 Jun; 46(3):347-52. PubMed ID: 15988805
[TBL] [Abstract][Full Text] [Related]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A.
Young P; Stögbauer F; Wiebusch H; Löfgren A; Timmerman V; Van Broeckhoven C; Ringelstein EB; Assmann G; Funke H
Neurology; 1998 Mar; 50(3):760-3. PubMed ID: 9521270
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. Charcot-Marie-Tooth disease and related inherited neuropathies.
Murakami T; Garcia CA; Reiter LT; Lupski JR
Medicine (Baltimore); 1996 Sep; 75(5):233-50. PubMed ID: 8862346
[TBL] [Abstract][Full Text] [Related]
10. Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).
Kabzinska D; Pierscinska J; Kochanski A
J Appl Genet; 2009; 50(3):283-8. PubMed ID: 19638685
[TBL] [Abstract][Full Text] [Related]
11. Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR.
Beckmann A; Schröder JM
Acta Neuropathol; 2000 Nov; 100(5):459-63. PubMed ID: 11045666
[TBL] [Abstract][Full Text] [Related]
12. 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
[TBL] [Abstract][Full Text] [Related]
13. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
Nelis E; Van Broeckhoven C; De Jonghe P; Löfgren A; Vandenberghe A; Latour P; Le Guern E; Brice A; Mostacciuolo ML; Schiavon F; Palau F; Bort S; Upadhyaya M; Rocchi M; Archidiacono N; Mandich P; Bellone E; Silander K; Savontaus ML; Navon R; Goldberg-Stern H; Estivill X; Volpini V; Friedl W; Gal A
Eur J Hum Genet; 1996; 4(1):25-33. PubMed ID: 8800924
[TBL] [Abstract][Full Text] [Related]
14. Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.
Leonardis L; Zidar J; Ekici A; Peterlin B; Rautenstrauss B
Int J Mol Med; 1998 Feb; 1(2):495-501. PubMed ID: 9852256
[TBL] [Abstract][Full Text] [Related]
15. Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs.
Seeman P; Mazanec R; Zidar J; Hrusáková S; Ctvrtecková M; Rautenstrauss B
Int J Mol Med; 2000 Oct; 6(4):421-6. PubMed ID: 10998431
[TBL] [Abstract][Full Text] [Related]
16. Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF
Suppl Clin Neurophysiol; 2004; 57():228-42. PubMed ID: 16106622
[TBL] [Abstract][Full Text] [Related]
17. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.
Mathis S; Corcia P; Tazir M; Camu W; Magdelaine C; Latour P; Biberon J; Guennoc AM; Richard L; Magy L; Funalot B; Vallat JM
Neuromuscul Disord; 2014 Jun; 24(6):524-8. PubMed ID: 24792522
[TBL] [Abstract][Full Text] [Related]
18. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Bort S; Nelis E; Timmerman V; Sevilla T; Cruz-Martínez A; Martínez F; Millán JM; Arpa J; Vílchez JJ; Prieto F; Van Broeckhoven C; Palau F
Hum Genet; 1997 Jun; 99(6):746-54. PubMed ID: 9187667
[TBL] [Abstract][Full Text] [Related]
19. Inherited neuropathies: from gene to disease.
Keller MP; Chance PF
Brain Pathol; 1999 Apr; 9(2):327-41. PubMed ID: 10219749
[TBL] [Abstract][Full Text] [Related]
20. Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies.
Gabriel JM; Erne B; Pareyson D; Sghirlanzoni A; Taroni F; Steck AJ
Neurology; 1997 Dec; 49(6):1635-40. PubMed ID: 9409359
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
