206 related articles for article (PubMed ID: 25188731)
1. Genome editing-enabled HTS assays expand drug target pathways for Charcot-Marie-tooth disease.
Inglese J; Dranchak P; Moran JJ; Jang SW; Srinivasan R; Santiago Y; Zhang L; Guha R; Martinez N; MacArthur R; Cost GJ; Svaren J
ACS Chem Biol; 2014 Nov; 9(11):2594-602. PubMed ID: 25188731
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Genome-Edited Coincidence and PMP22-HiBiT Fusion Reporter Cell Lines Enable an Artifact-Suppressive Quantitative High-Throughput Screening Strategy for
Martinez NJ; Braisted JC; Dranchak PK; Moran JJ; Larson H; Queme B; Pak E; Dutra A; Rai G; Cheng KC; Svaren J; Inglese J
ACS Pharmacol Transl Sci; 2021 Aug; 4(4):1422-1436. PubMed ID: 34423274
[TBL] [Abstract][Full Text] [Related]
4. Identification of drug modulators targeting gene-dosage disease CMT1A.
Jang SW; Lopez-Anido C; MacArthur R; Svaren J; Inglese J
ACS Chem Biol; 2012 Jul; 7(7):1205-13. PubMed ID: 22530759
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease.
Nobbio L; Vigo T; Abbruzzese M; Levi G; Brancolini C; Mantero S; Grandis M; Benedetti L; Mancardi G; Schenone A
Neurobiol Dis; 2004 Jun; 16(1):263-73. PubMed ID: 15207283
[TBL] [Abstract][Full Text] [Related]
7. Genome-Edited Cell Lines for High-Throughput Screening.
Dranchak P; Moran JJ; MacArthur R; Lopez-Anido C; Inglese J; Svaren J
Methods Mol Biol; 2018; 1755():1-17. PubMed ID: 29671259
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A.
Perea J; Robertson A; Tolmachova T; Muddle J; King RH; Ponsford S; Thomas PK; Huxley C
Hum Mol Genet; 2001 May; 10(10):1007-18. PubMed ID: 11331611
[TBL] [Abstract][Full Text] [Related]
10. Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer.
Pantera H; Moran JJ; Hung HA; Pak E; Dutra A; Svaren J
Hum Mol Genet; 2018 Aug; 27(16):2830-2839. PubMed ID: 29771329
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A.
Hanemann CO; D'Urso D; Gabreëls-Festen AA; Müller HW
Brain; 2000 May; 123 ( Pt 5)():1001-6. PubMed ID: 10775544
[TBL] [Abstract][Full Text] [Related]
15. Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A.
Sancho S; Young P; Suter U
Brain; 2001 Nov; 124(Pt 11):2177-87. PubMed ID: 11673320
[TBL] [Abstract][Full Text] [Related]
16. Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.
Vanoye CG; Sakakura M; Follis RM; Trevisan AJ; Narayan M; Li J; Sanders CR; Carter BD
J Biol Chem; 2019 Aug; 294(32):12054-12065. PubMed ID: 31213528
[TBL] [Abstract][Full Text] [Related]
17. Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood.
Ouvrier R
J Child Neurol; 1996 Mar; 11(2):133-46. PubMed ID: 8881991
[TBL] [Abstract][Full Text] [Related]
18. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
Boyer O; Nevo F; Plaisier E; Funalot B; Gribouval O; Benoit G; Huynh Cong E; Arrondel C; Tête MJ; Montjean R; Richard L; Karras A; Pouteil-Noble C; Balafrej L; Bonnardeaux A; Canaud G; Charasse C; Dantal J; Deschenes G; Deteix P; Dubourg O; Petiot P; Pouthier D; Leguern E; Guiochon-Mantel A; Broutin I; Gubler MC; Saunier S; Ronco P; Vallat JM; Alonso MA; Antignac C; Mollet G
N Engl J Med; 2011 Dec; 365(25):2377-88. PubMed ID: 22187985
[TBL] [Abstract][Full Text] [Related]
19. Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A.
Haney C; Snipes GJ; Shooter EM; Suter U; Garcia C; Griffin JW; Trapp BD
J Neuropathol Exp Neurol; 1996 Mar; 55(3):290-9. PubMed ID: 8786387
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
