205 related articles for article (PubMed ID: 19654968)
1. Charcot-Marie-Tooth 1A concurrent with schwannomas of the spinal cord and median nerve.
Kwon JY; Chung KW; Park EK; Park SW; Choi BO
J Korean Med Sci; 2009 Aug; 24(4):763-6. PubMed ID: 19654968
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
Roa BB; Garcia CA; Pentao L; Killian JM; Trask BJ; Suter U; Snipes GJ; Ortiz-Lopez R; Shooter EM; Patel PI; Lupski JR
Nat Genet; 1993 Oct; 5(2):189-94. PubMed ID: 8252046
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.
Lopes J; LeGuern E; Gouider R; Tardieu S; Abbas N; Birouk N; Gugenheim M; Bouche P; Agid Y; Brice A
Am J Hum Genet; 1996 Jun; 58(6):1223-30. PubMed ID: 8651299
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
van Paassen BW; van der Kooi AJ; van Spaendonck-Zwarts KY; Verhamme C; Baas F; de Visser M
Orphanet J Rare Dis; 2014 Mar; 9():38. PubMed ID: 24646194
[TBL] [Abstract][Full Text] [Related]
15. Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.
Stronach EA; Clark C; Bell C; Löfgren A; McKay NG; Timmerman V; Van Broeckhoven C; Haites NE
J Peripher Nerv Syst; 1999; 4(2):117-22. PubMed ID: 10442687
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. [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]
19. Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12.
Vandenberghe A; Latour P; Chauplannaz G; Chapon F; Pouget J; Dumas R; Laguenay A; Ollagnon E; Bost M; Duthel S; Chazot G; Boucherat M
Clin Chem; 1996 Jul; 42(7):1021-5. PubMed ID: 8674184
[TBL] [Abstract][Full Text] [Related]
20. A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.
Matsuda N; Ootsuki K; Kobayashi S; Nemoto A; Kubo H; Usami SI; Kanani K
BMC Neurol; 2021 Jun; 21(1):243. PubMed ID: 34171997
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
