BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

747 related articles for article (PubMed ID: 26432165)

  • 1. Atypical presentation of Charcot-Marie-Tooth disease 1A: A case report.
    Kulkarni SD; Sayed R; Garg M; Patil VA
    Neuromuscul Disord; 2015 Nov; 25(11):916-9. PubMed ID: 26432165
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.
    Guimarães-Costa R; Iancu Ferfoglia R; Leonard-Louis S; Ziegler F; Magy L; Fournier E; Dubourg O; Bouche P; Maisonobe T; Lacour A; Moerman A; Latour P; Stojkovic T
    Eur J Neurol; 2017 Mar; 24(3):530-538. PubMed ID: 28211240
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A).
    Posa A; Emmer A; Kornhuber ME
    Clin Neurol Neurosurg; 2017 Apr; 155():20-21. PubMed ID: 28214652
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Genetic testing practices for Charcot-Marie-Tooth type 1A disease.
    Tousignant R; Trepanier A; Shy ME; Siskind CE
    Muscle Nerve; 2014 Apr; 49(4):478-82. PubMed ID: 23963961
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn.
    Fusco C; Frattini D; Scarano A; Giustina ED
    Pediatr Neurol; 2009 Jun; 40(6):461-4. PubMed ID: 19433282
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The modifying effect a PMP22 deletion in a family with Charcot-Marie-Tooth type 1 neuropathy due to an EGR2 mutation.
    Reményi V; Inczédy-Farkas G; Gál A; Bereznai B; Pál Z; Karcagi V; Mechler F; Molnár MJ
    Ideggyogy Sz; 2014 Nov; 67(11-12):420-5. PubMed ID: 25720245
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Molecular pathology of Charcot-Marie-Tooth disease type 1A: abnormal expression of PMP-22].
    Yoshikawa H; Nishimura T; Yanagihara T
    Rinsho Shinkeigaku; 1995 Dec; 35(12):1441-3. PubMed ID: 8752424
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.
    Kim SM; Lee J; Yoon BR; Kim YJ; Choi BO; Chung KW
    J Hum Genet; 2015 Feb; 60(2):103-6. PubMed ID: 25500726
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.
    Roa BB; Garcia CA; Lupski JR
    Int J Neurol; 1991-1992; 25-26():97-107. PubMed ID: 11980069
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy.
    Hanemann CO; Müller HW
    Trends Neurosci; 1998 Jul; 21(7):282-6. PubMed ID: 9683317
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study.
    Hsieh SY; Kuo HC; Chu CC; Lin KP; Huang CC
    Chang Gung Med J; 2004 Apr; 27(4):300-6. PubMed ID: 15239197
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.
    Nan H; Wu Y; Cui S; Sun H; Wang J; Li Y; Meng L; Nagasaka T; Wu L
    BMC Neurol; 2022 Jan; 22(1):17. PubMed ID: 34996390
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies.
    Hanemann CO; Stoll G; D'Urso D; Fricke W; Martin JJ; Van Broeckhoven C; Mancardi GL; Bartke I; Müller HW
    J Neurosci Res; 1994 Apr; 37(5):654-9. PubMed ID: 8028042
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Charcot-Marie-Tooth disease type 1A: a family study with microsatellites.
    Qu Y; Carpenter NJ; Whetsell L; Smith SP; Say B
    J Okla State Med Assoc; 1996 Nov; 89(11):395-9. PubMed ID: 8972170
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Small axons relative to number of myelin lamellae in Charcot-Marie-Tooth disease 1A with peripheral myelin protein 22 gene duplication.
    Ohnishi A; Yamamoto T; Ikeda M
    J UOEH; 2000 Jun; 22(2):107-17. PubMed ID: 10862406
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 38.