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Volumn 4, Issue , 2015, Pages

A brief review of recent Charcot-Marie-Tooth research and priorities

(13)  Ekins, Sean a,b,c   Litterman, Nadia K c   Arnold, Renée J G d,e,f   Burgess, Robert W g   Freundlich, Joel S h   Gray, Steven J i   Higgins, Joseph J j   Langley, Brett k,l   Willis, Dianna E k   Notterpek, Lucia m   Pleasure, David n   Sereda, Michael W o,p   Moore, Allison a  


Author keywords

[No Author keywords available]

Indexed keywords

BASIC RESEARCH; CLINICAL RESEARCH; CMT1A GENE; DIAGNOSTIC ACCURACY; GENE; GENE FREQUENCY; GENE MUTATION; GENE THERAPY; GENETIC ASSOCIATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MUTATIONAL ANALYSIS; NONHUMAN; OUTCOMES RESEARCH; QUALITY OF LIFE; REVIEW; STEM CELL TRANSPLANTATION;

EID: 84931281940     PISSN: 20461402     EISSN: 1759796X     Source Type: Journal    
DOI: 10.12688/f1000research.6160.1     Document Type: Review
Times cited : (32)

References (104)
  • 1
    • 84905157309 scopus 로고    scopus 로고
    • The discovery of medicines for rare diseases
    • 25068983
    • Swinney DC Xia S: The discovery of medicines for rare diseases. Future Med Chem. 2014;6(9):987-1002. 25068983 10.4155/fmc.14.65
    • (2014) Future Med Chem , vol.6 , Issue.9 , pp. 987-1002
    • Swinney, D.C.1    Xia, S.2
  • 2
    • 84880072331 scopus 로고    scopus 로고
    • Rare diseases research: expanding collaborative translational research opportunities
    • 23880676, 3707172
    • Groft SC: Rare diseases research: expanding collaborative translational research opportunities. Chest. 2013;144(1):16-23. 23880676 10.1378/chest.13-0606 3707172
    • (2013) Chest , vol.144 , Issue.1 , pp. 16-23
    • Groft, S.C.1
  • 3
    • 84886953083 scopus 로고    scopus 로고
    • Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery
    • 23968993
    • Wood J Sames L Moore A: Multifaceted roles of ultra-rare and rare disease patients/parents in drug discovery. Drug Discov Today. 2013;18(21-22):1043-1051. 23968993 10.1016/j.drudis.2013.08.006
    • (2013) Drug Discov Today , vol.18 , Issue.21-22 , pp. 1043-1051
    • Wood, J.1    Sames, L.2    Moore, A.3
  • 4
    • 84923181324 scopus 로고    scopus 로고
    • The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated
    • 24651604
    • Might M Wilsey M: The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated. Genet Med. 2014;16(10):736-7. 24651604 10.1038/gim.2014.23
    • (2014) Genet Med , vol.16 , Issue.10 , pp. 736-737
    • Might, M.1    Wilsey, M.2
  • 5
    • 84921047574 scopus 로고    scopus 로고
    • The future of research in neuropathy
    • 25364864
    • Itoh T Pleasure D: The future of research in neuropathy. JAMA Neurol. 2014;72(1):5-7. 25364864 10.1001/jamaneurol.2014.2346
    • (2014) JAMA Neurol , vol.72 , Issue.1 , pp. 5-7
    • Itoh, T.1    Pleasure, D.2
  • 6
    • 79959901574 scopus 로고    scopus 로고
    • The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases
    • 21733145, 3149566
    • Miyamoto BE Kakkis ED: The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases. Orphanet J Rare Dis. 2011;6:49. 21733145 10.1186/1750-1172-6-49 3149566
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 49
    • Miyamoto, B.E.1    Kakkis, E.D.2
  • 7
    • 84862173050 scopus 로고    scopus 로고
    • A generalizable pre-clinical research approach for orphan disease therapy
    • 22704758, 3458970
    • Beaulieu CL Samuels ME Ekins S: A generalizable pre-clinical research approach for orphan disease therapy. Orphanet J Rare Dis. 2012;7:39. 22704758 10.1186/1750-1172-7-39 3458970
    • (2012) Orphanet J Rare Dis , vol.7 , pp. 39
    • Beaulieu, C.L.1    Samuels, M.E.2    Ekins, S.3
  • 8
    • 84916624190 scopus 로고    scopus 로고
    • Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy
    • 24860645, 4023663
    • Sames L Moore A Arnold R: Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy. F1000Res. 2014;3:83. 24860645 10.12688/f1000research.3751.2 4023663
    • (2014) F1000Res , vol.3 , pp. 83
    • Sames, L.1    Moore, A.2    Arnold, R.3
  • 9
    • 84914703685 scopus 로고    scopus 로고
    • Ice bucket challenge cash may help derisk ALS drug research
    • 25295924
    • Vaidya M: Ice bucket challenge cash may help derisk ALS drug research. Nat Med. 2014;20(10):1080. 25295924 10.1038/nm1014-1080
    • (2014) Nat Med , vol.20 , Issue.10 , pp. 1080
    • Vaidya, M.1
  • 10
    • 39349107014 scopus 로고    scopus 로고
    • Design, power, and interpretation of studies in the standard murine model of ALS
    • 18273714
    • Scott S Kranz JE Cole J: Design, power, and interpretation of studies in the standard murine model of ALS. Amyotroph Lateral Scler. 2008;9(1):4-15. 18273714 10.1080/17482960701856300
    • (2008) Amyotroph Lateral Scler , vol.9 , Issue.1 , pp. 4-15
    • Scott, S.1    Kranz, J.E.2    Cole, J.3
  • 11
    • 84897425769 scopus 로고    scopus 로고
    • Preclinical research: Make mouse studies work
    • 24678540
    • Perrin S: Preclinical research: Make mouse studies work. Nature. 2014;507(7493):423-425. 24678540 10.1038/507423a
    • (2014) Nature , vol.507 , Issue.7493 , pp. 423-425
    • Perrin, S.1
  • 12
    • 80055088241 scopus 로고    scopus 로고
    • Believe it or not: how much can we rely on published data on potential drug targets?
    • 21892149
    • Prinz F Schlange T Asadullah K: Believe it or not: how much can we rely on published data on potential drug targets? Nat Rev Drug Discov. 2011;10(9):712. 21892149 10.1038/nrd3439-c1
    • (2011) Nat Rev Drug Discov , vol.10 , Issue.9 , pp. 712
    • Prinz, F.1    Schlange, T.2    Asadullah, K.3
  • 13
    • 77950571108 scopus 로고    scopus 로고
    • New substructure filters for removal of pan assay interference compounds (PAINS) from screening libraries and for their exclusion in bioassays
    • 20131845
    • Baell JB Holloway GA: New substructure filters for removal of pan assay interference compounds (PAINS) from screening libraries and for their exclusion in bioassays. J Med Chem. 2010;53(7):2719-2740. 20131845 10.1021/jm901137j
    • (2010) J Med Chem , vol.53 , Issue.7 , pp. 2719-2740
    • Baell, J.B.1    Holloway, G.A.2
  • 14
    • 84908530414 scopus 로고    scopus 로고
    • Chemistry: Chemical con artists foil drug discovery
    • 25254460
    • Baell J Walters MA: Chemistry: Chemical con artists foil drug discovery. Nature. 2014;513(7519):481-3. 25254460 10.1038/513481a
    • (2014) Nature , vol.513 , Issue.7519 , pp. 481-483
    • Baell, J.1    Walters, M.A.2
  • 15
    • 84862023493 scopus 로고    scopus 로고
    • Chemical and biological properties of frequent screening hits
    • 22435989
    • Che J King FJ Zhou B: Chemical and biological properties of frequent screening hits. J Chem Inf Model. 2012;52(4):913-26. 22435989 10.1021/ci300005y
    • (2012) J Chem Inf Model , vol.52 , Issue.4 , pp. 913-926
    • Che, J.1    King, F.J.2    Zhou, B.3
  • 16
    • 78650674952 scopus 로고    scopus 로고
    • False positives in the early stages of drug discovery
    • 20939815
    • Sink R Gobec S Pear S: False positives in the early stages of drug discovery. Curr Med Chem. 2010;17(34):4231-55. 20939815 10.2174/092986710793348545
    • (2010) Curr Med Chem , vol.17 , Issue.34 , pp. 4231-4255
    • Sink, R.1    Gobec, S.2    Pear, S.3
  • 17
    • 84877067898 scopus 로고    scopus 로고
    • Dispensing processes impact apparent biological activity as determined by computational and statistical analyses
    • 23658723, 3641061
    • Ekins S Olechno J Williams AJ: Dispensing processes impact apparent biological activity as determined by computational and statistical analyses. PLoS One. 2013;8(5):e62325. 23658723 10.1371/journal.pone.0062325 3641061
    • (2013) PLoS One , vol.8 , Issue.5 , pp. e62325
    • Ekins, S.1    Olechno, J.2    Williams, A.J.3
  • 18
    • 55849098575 scopus 로고    scopus 로고
    • Bioactive contaminants leach from disposable laboratory plasticware
    • 18988846
    • McDonald GR Hudson AL Dunn SM: Bioactive contaminants leach from disposable laboratory plasticware. Science. 2008;322(5903):917. 18988846 10.1126/science.1162395
    • (2008) Science , vol.322 , Issue.5903 , pp. 917
    • McDonald, G.R.1    Hudson, A.L.2    Dunn, S.M.3
  • 19
    • 84875733971 scopus 로고    scopus 로고
    • Colloidal aggregation causes inhibition of G protein-coupled receptors
    • 23437772, 3613083
    • Sassano MF Doak AK Roth BL: Colloidal aggregation causes inhibition of G protein-coupled receptors. J Med Chem. 2013;56(6):2406-14. 23437772 10.1021/jm301749y 3613083
    • (2013) J Med Chem , vol.56 , Issue.6 , pp. 2406-2414
    • Sassano, M.F.1    Doak, A.K.2    Roth, B.L.3
  • 20
    • 67651021177 scopus 로고    scopus 로고
    • Overcoming problems of compound storage in DMSO: solvent and process alternatives
    • 19531665
    • Waybright TJ Britt JR McCloud TG: Overcoming problems of compound storage in DMSO: solvent and process alternatives. J Biomol Screen. 2009;14(6):708-15. 19531665 10.1177/1087057109335670
    • (2009) J Biomol Screen , vol.14 , Issue.6 , pp. 708-715
    • Waybright, T.J.1    Britt, J.R.2    McCloud, T.G.3
  • 21
    • 84880772346 scopus 로고    scopus 로고
    • Triton X-100 inhibits L-type voltage-operated calcium channels
    • 23627843
    • Narang D Kerr PM Baserman J: Triton X-100 inhibits L-type voltage-operated calcium channels. Can J Physiol Pharmacol. 2013;91(4):316-24. 23627843 10.1139/cjpp-2012-0257
    • (2013) Can J Physiol Pharmacol , vol.91 , Issue.4 , pp. 316-324
    • Narang, D.1    Kerr, P.M.2    Baserman, J.3
  • 22
    • 84863531180 scopus 로고    scopus 로고
    • Towards a gold standard: regarding quality in public domain chemistry databases and approaches to improving the situation
    • 22426180
    • Williams AJ Ekins S Tkachenko V: Towards a gold standard: regarding quality in public domain chemistry databases and approaches to improving the situation. Drug Discov Today. 2012;17(13-14):685-701. 22426180 10.1016/j.drudis.2012.02.013
    • (2012) Drug Discov Today , vol.17 , Issue.13-14 , pp. 685-701
    • Williams, A.J.1    Ekins, S.2    Tkachenko, V.3
  • 23
    • 84871927881 scopus 로고    scopus 로고
    • Challenges and recommendations for obtaining chemical structures of industry-provided repurposing candidates
    • 23159359
    • Southan C Williams AJ Ekins S: Challenges and recommendations for obtaining chemical structures of industry-provided repurposing candidates. Drug Discov Today. 2013;18(1-2):58-70. 23159359 10.1016/j.drudis.2012.11.005
    • (2013) Drug Discov Today , vol.18 , Issue.1-2 , pp. 58-70
    • Southan, C.1    Williams, A.J.2    Ekins, S.3
  • 24
    • 80052189841 scopus 로고    scopus 로고
    • Minimum information about a bioactive entity (MIABE)
    • 21878981
    • Orchard S A-Lazikani B Bryant S: Minimum information about a bioactive entity (MIABE). Nat Rev Drug Discov. 2011;10(9):661-9. 21878981 10.1038/nrd3503
    • (2011) Nat Rev Drug Discov , vol.10 , Issue.9 , pp. 661-669
    • Orchard, S.1    A-Lazikani, B.2    Bryant, S.3
  • 25
    • 78951477121 scopus 로고    scopus 로고
    • Identifying actives from HTS data sets: practical approaches for the selection of an appropriate HTS data-processing method and quality control review
    • 21160066
    • Shun TY Lazo JS Sharlow ER: Identifying actives from HTS data sets: practical approaches for the selection of an appropriate HTS data-processing method and quality control review. J Biomol Screen. 2011;16(1):1-14. 21160066 10.1177/1087057110389039
    • (2011) J Biomol Screen , vol.16 , Issue.1 , pp. 1-14
    • Shun, T.Y.1    Lazo, J.S.2    Sharlow, E.R.3
  • 26
    • 67650299761 scopus 로고    scopus 로고
    • Quantifying biogenic bias in screening libraries
    • 19483698, 2783405
    • Hert J Irwin JJ Laggner C: Quantifying biogenic bias in screening libraries. Nat Chem Biol. 2009;5(7):479-83. 19483698 10.1038/nchembio.180 2783405
    • (2009) Nat Chem Biol , vol.5 , Issue.7 , pp. 479-483
    • Hert, J.1    Irwin, J.J.2    Laggner, C.3
  • 27
    • 84874692543 scopus 로고    scopus 로고
    • Four disruptive strategies for removing drug discovery bottlenecks
    • 23098820
    • Ekins S Waller CL Bradley MP: Four disruptive strategies for removing drug discovery bottlenecks. Drug Discov Today. 2013;18(5-6):265-71. 23098820 10.1016/j.drudis.2012.10.007
    • (2013) Drug Discov Today , vol.18 , Issue.5-6 , pp. 265-271
    • Ekins, S.1    Waller, C.L.2    Bradley, M.P.3
  • 28
    • 79957898111 scopus 로고    scopus 로고
    • US academic drug discovery
    • 21629285
    • Frye S Crosby M Edwards T: US academic drug discovery. Nat Rev Drug Discov. 2011;10(6):409-10. 21629285 10.1038/nrd3462
    • (2011) Nat Rev Drug Discov , vol.10 , Issue.6 , pp. 409-410
    • Frye, S.1    Crosby, M.2    Edwards, T.3
  • 29
    • 84892153139 scopus 로고    scopus 로고
    • Clinical development success rates for investigational drugs
    • 24406927
    • Hay M Thomas DW Craighead JL: Clinical development success rates for investigational drugs. Nat Biotechnol. 2014;32(1): 40-51. 24406927 10.1038/nbt.2786
    • (2014) Nat Biotechnol , vol.32 , Issue.1 , pp. 40-51
    • Hay, M.1    Thomas, D.W.2    Craighead, J.L.3
  • 30
    • 84923371368 scopus 로고    scopus 로고
    • The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy
    • 25614874, 4303222
    • DiVincenzo C Elzinga CD Medeiros AC: The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Mol Genet Genomic Med. 2014;2(6):522-529. 25614874 10.1002/mgg3.106 4303222
    • (2014) Mol Genet Genomic Med , vol.2 , Issue.6 , pp. 522-529
    • DiVincenzo, C.1    Elzinga, C.D.2    Medeiros, A.C.3
  • 31
    • 81455134414 scopus 로고    scopus 로고
    • Strategy for genetic testing in Charcot-Marie-disease
    • 22106713, 3235845
    • Miller LJ Saporta AS Sottile SL: Strategy for genetic testing in Charcot-Marie-disease. Acta Myol. 2011;30(2):109-16. 22106713 10.1523/JNEUROSCI.1356-10.2010 3235845
    • (2011) Acta Myol , vol.30 , Issue.2 , pp. 109-116
    • Miller, L.J.1    Saporta, A.S.2    Sottile, S.L.3
  • 32
    • 77956124566 scopus 로고    scopus 로고
    • Rapamycin activates autophagy and improves myelination in explant cultures from neuropathic mice
    • 20739560, 3478092
    • Rangaraju S Verrier JD Madorsky I: Rapamycin activates autophagy and improves myelination in explant cultures from neuropathic mice. J Neurosci. 2010;30(34):11388-97. 20739560 10.1523/JNEUROSCI.1356-10.2010 3478092
    • (2010) J Neurosci , vol.30 , Issue.34 , pp. 11388-11397
    • Rangaraju, S.1    Verrier, J.D.2    Madorsky, I.3
  • 33
    • 33947219362 scopus 로고    scopus 로고
    • Ascorbic acid inhibits PMP22 expression by reducing cAMP levels
    • 17303424
    • Kaya F Belin S Bourgeois P: Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. Neuromuscul Disord. 2007;17(3):248-53. 17303424 10.1016/j.nmd.2006.12.008
    • (2007) Neuromuscul Disord , vol.17 , Issue.3 , pp. 248-253
    • Kaya, F.1    Belin, S.2    Bourgeois, P.3
  • 34
    • 60549116496 scopus 로고    scopus 로고
    • Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation
    • 19056666
    • England JD Gronseth GS Franklin G: Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology. 2009;72(2):185-92. 19056666 10.1212/01.wnl.0000336370.51010.a1
    • (2009) Neurology , vol.72 , Issue.2 , pp. 185-192
    • England, J.D.1    Gronseth, G.S.2    Franklin, G.3
  • 35
    • 84884302150 scopus 로고    scopus 로고
    • Diagnostic laboratory testing for Charcot-Marie-Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
    • 24053775, 3849068
    • Ostern R Fagerheim T Hjellnes H: Diagnostic laboratory testing for Charcot-Marie-Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. BMC Med Genet. 2013;14:94. 24053775 10.1186/1471-2350-14-94 3849068
    • (2013) BMC Med Genet , vol.14 , pp. 94
    • Ostern, R.1    Fagerheim, T.2    Hjellnes, H.3
  • 36
    • 84861908529 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
    • 22577229, 3736805
    • Murphy SM Laura M Fawcett K: Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry. 2012;83(7):706-10. 22577229 10.1136/jnnp-2012-302451 3736805
    • (2012) J Neurol Neurosurg Psychiatry , vol.83 , Issue.7 , pp. 706-710
    • Murphy, S.M.1    Laura, M.2    Fawcett, K.3
  • 37
    • 79551488413 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease subtypes and genetic testing strategies
    • 21280073, 3058597
    • Saporta AS Sottile SL Miller LJ: Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011;69(1):22-33. 21280073 10.1002/ana.22166 3058597
    • (2011) Ann Neurol , vol.69 , Issue.1 , pp. 22-33
    • Saporta, A.S.1    Sottile, S.L.2    Miller, L.J.3
  • 38
    • 84896547820 scopus 로고    scopus 로고
    • Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1
    • 23963299, 3953916
    • Ylikallio E Johari M Konovalova S: Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1. Eur J Hum Genet. 2014;22(4):522-7. 23963299 10.1038/ejhg.2013.190 3953916
    • (2014) Eur J Hum Genet , vol.22 , Issue.4 , pp. 522-527
    • Ylikallio, E.1    Johari, M.2    Konovalova, S.3
  • 39
    • 84874721917 scopus 로고    scopus 로고
    • Aminoacyl-tRNA synthetases in medicine and disease
    • 23427196, 3598075
    • Yao P Fox PL: Aminoacyl-tRNA synthetases in medicine and disease. EMBO Mol Med. 2013;5(3):332-43. 23427196 10.1002/emmm.201100626 3598075
    • (2013) EMBO Mol Med , vol.5 , Issue.3 , pp. 332-343
    • Yao, P.1    Fox, P.L.2
  • 40
    • 73349114324 scopus 로고    scopus 로고
    • A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease
    • 20045102, 2801750
    • Latour P Thauvin-Robinet C Baudelet-Méry C: A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet. 2010;86(1):77-82. 20045102 10.1016/j.ajhg.2009.12.005 2801750
    • (2010) Am J Hum Genet , vol.86 , Issue.1 , pp. 77-82
    • Latour, P.1    Thauvin-Robinet, C.2    Baudelet-Méry, C.3
  • 41
    • 31744448271 scopus 로고    scopus 로고
    • Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
    • 16429158
    • Jordanova A Irobi J Thomas FP: Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet. 2006;38(2):197-202. 16429158 10.1038/ng1727
    • (2006) Nat Genet , vol.38 , Issue.2 , pp. 197-202
    • Jordanova, A.1    Irobi, J.2    Thomas, F.P.3
  • 42
    • 0038067742 scopus 로고    scopus 로고
    • Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
    • 12690580, 1180282
    • Antonellis A Ellsworth RE Sambuughin N: Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003;72(5):1293-9. 12690580 10.1086/375039 1180282
    • (2003) Am J Hum Genet , vol.72 , Issue.5 , pp. 1293-1299
    • Antonellis, A.1    Ellsworth, R.E.2    Sambuughin, N.3
  • 43
    • 77957724879 scopus 로고    scopus 로고
    • Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy
    • 20920668, 2948804
    • McLaughlin HM Sakaguchi R Liu C: Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet. 2010;87(4):560-6. 20920668 10.1016/j.ajhg.2010.09.008 2948804
    • (2010) Am J Hum Genet , vol.87 , Issue.4 , pp. 560-566
    • McLaughlin, H.M.1    Sakaguchi, R.2    Liu, C.3
  • 44
    • 84885586767 scopus 로고    scopus 로고
    • Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
    • 23729695
    • Gonzalez M McLaughlin H Houlden H: Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry. 2013;84(11):1247-9. 23729695 10.1136/jnnp-2013-305049 3796032
    • (2013) J Neurol Neurosurg Psychiatry , vol.84 , Issue.11 , pp. 1247-1249
    • Gonzalez, M.1    McLaughlin, H.2    Houlden, H.3
  • 45
    • 84871608495 scopus 로고    scopus 로고
    • A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo
    • 22930593
    • Vester A Velez-Ruiz G McLaughlin HM: A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat. 2013;34(1):191-9. 22930593 10.1002/humu.22210 3535524
    • (2013) Hum Mutat , vol.34 , Issue.1 , pp. 191-199
    • Vester, A.1    Velez-Ruiz, G.2    McLaughlin, H.M.3
  • 46
    • 84917739128 scopus 로고    scopus 로고
    • Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations
    • 25168514
    • Griffin LB Sakaguchi R McGuigan D: Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. Hum Mutat. 2014;35(11):1363-71. 25168514 10.1002/humu.22681 4213347
    • (2014) Hum Mutat , vol.35 , Issue.11 , pp. 1363-1371
    • Griffin, L.B.1    Sakaguchi, R.2    McGuigan, D.3
  • 47
    • 84855289563 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels
    • 22144914
    • Motley WW Seburn KL Nawaz MH: Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. PLoS Genet. 2011;7(12):e1002399. 22144914 10.1371/journal.pgen.1002399 3228828
    • (2011) PLoS Genet , vol.7 , Issue.12 , pp. e1002399
    • Motley, W.W.1    Seburn, K.L.2    Nawaz, M.H.3
  • 48
    • 33749853624 scopus 로고    scopus 로고
    • Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons
    • 17035524
    • Antonellis A Lee-Lin SQ Wasterlain A: Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci. 2006;26(41):10397-406. 17035524 10.1523/JNEUROSCI.1671-06.2006
    • (2006) J Neurosci , vol.26 , Issue.41 , pp. 10397-10406
    • Antonellis, A.1    Lee-Lin, S.Q.2    Wasterlain, A.3
  • 49
    • 75749132024 scopus 로고    scopus 로고
    • GARS axonopathy: not every neuron's cup of tRNA
    • 20152552
    • Motley WW Talbot K Fischbeck KH: GARS axonopathy: not every neuron's cup of tRNA. Trends Neurosci. 2010;33(2):59-66. 20152552 10.1016/j.tins.2009.11.001 2822721
    • (2010) Trends Neurosci , vol.33 , Issue.2 , pp. 59-66
    • Motley, W.W.1    Talbot, K.2    Fischbeck, K.H.3
  • 50
    • 84929879101 scopus 로고    scopus 로고
    • Experimental Treatment of hereditary and acquired Neuropathies
    • Pathological potential of neuroglia
    • Fledrich R Stassart RM Sereda MW: Experimental Treatment of hereditary and acquired Neuropathies, in Pathological potential of neuroglia. V. Parpura and A. Verkhratsky, Editors. Springer.2014;437-472. 10.1007/978-1-4939-0974-2_19
    • (2014) , pp. 437-472
    • Fledrich, R.1    Stassart, R.M.2    Sereda, M.W.3
  • 51
    • 0032103882 scopus 로고    scopus 로고
    • Many facets of the peripheral myelin protein PMP22 in myelination and disease
    • 9672419
    • Naef R Suter U: Many facets of the peripheral myelin protein PMP22 in myelination and disease. Micros Res Tech. 1998;41(5):359-371. 9672419 10.1002/(SICI)1097-0029(19980601)41:5&<359::AID-JEMT3&>3.0.CO;2-L
    • (1998) Micros Res Tech , vol.41 , Issue.5 , pp. 359-371
    • Naef, R.1    Suter, U.2
  • 52
    • 84908336422 scopus 로고    scopus 로고
    • Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A
    • 25150498
    • Fledrich R Stassart RM Klink A: Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A. Nat Med. 2014;20(9):1055-61. 25150498 10.1038/nm.3664
    • (2014) Nat Med , vol.20 , Issue.9 , pp. 1055-1061
    • Fledrich, R.1    Stassart, R.M.2    Klink, A.3
  • 53
    • 84914104961 scopus 로고    scopus 로고
    • Genome editing-enabled HTS assays expand drug target pathways for Charcot-Marie-tooth disease
    • 25188731
    • Inglese J Dranchak P Moran JJ: Genome editing-enabled HTS assays expand drug target pathways for Charcot-Marie-tooth disease. ACS Chem Biol. 2014;9(11):2594-602. 25188731 10.1021/cb5005492 4245164
    • (2014) ACS Chem Biol , vol.9 , Issue.11 , pp. 2594-2602
    • Inglese, J.1    Dranchak, P.2    Moran, J.J.3
  • 54
    • 84864129115 scopus 로고    scopus 로고
    • Identification of drug modulators targeting gene-dosage disease CMT1A
    • 22530759
    • Jang SW Lopez-Anido C MacArthur R: Identification of drug modulators targeting gene-dosage disease CMT1A. ACS Chem Biol. 2012;7(7):1205-13. 22530759 10.1021/cb300048d 3401360
    • (2012) ACS Chem Biol , vol.7 , Issue.7 , pp. 1205-1213
    • Jang, S.W.1    Lopez-Anido, C.2    MacArthur, R.3
  • 55
    • 84904875584 scopus 로고    scopus 로고
    • Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice
    • 25014022
    • Nicks J Lee S Harris A: Rapamycin improves peripheral nerve myelination while it fails to benefit neuromuscular performance in neuropathic mice. Neurobiol Dis. 2014;70:224-36. 25014022 10.1016/j.nbd.2014.06.023
    • (2014) Neurobiol Dis , vol.70 , pp. 224-236
    • Nicks, J.1    Lee, S.2    Harris, A.3
  • 56
    • 84911927388 scopus 로고    scopus 로고
    • PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts
    • 25429154
    • Lee S Amici S Tavori H: PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts. J Neurosci. 2014;34(48):16140-52. 25429154 10.1523/JNEUROSCI.1908-14.2014 4244477
    • (2014) J Neurosci , vol.34 , Issue.48 , pp. 16140-16152
    • Lee, S.1    Amici, S.2    Tavori, H.3
  • 57
    • 73349143672 scopus 로고    scopus 로고
    • HDAC6 is a target for protection and regeneration following injury in the nervous system
    • 19884510
    • Rivieccio MA Brochier C Willis DE: HDAC6 is a target for protection and regeneration following injury in the nervous system. Proc Natl Acad Sci U S A. 2009;106(46):19599-604. 19884510 10.1073/pnas.0907935106 2780768
    • (2009) Proc Natl Acad Sci U S A , vol.106 , Issue.46 , pp. 19599-19604
    • Rivieccio, M.A.1    Brochier, C.2    Willis, D.E.3
  • 58
    • 79961168180 scopus 로고    scopus 로고
    • HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease
    • 21785432
    • d'Ydewalle C Krishnan J Chiheb DM: HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease. Nat Med. 2011;17(8):968-74. 21785432 10.1038/nm.2396
    • (2011) Nat Med , vol.17 , Issue.8 , pp. 968-974
    • d'Ydewalle, C.1    Krishnan, J.2    Chiheb, D.M.3
  • 59
    • 84892916127 scopus 로고    scopus 로고
    • Ethoxyquin prevents chemotherapy-induced neurotoxicity via Hsp90 modulation
    • 23955554
    • Zhu J Chen W Mi R: Ethoxyquin prevents chemotherapy-induced neurotoxicity via Hsp90 modulation. Ann Neurol. 2013;74(6):893-904. 23955554 10.1002/ana.24004
    • (2013) Ann Neurol , vol.74 , Issue.6 , pp. 893-904
    • Zhu, J.1    Chen, W.2    Mi, R.3
  • 60
    • 84925851699 scopus 로고    scopus 로고
    • Inducible HSP70 Is Critical in Preventing the Aggregation and Enhancing the Processing of PMP22
    • 25694550
    • Chittoor-Vinod VG Lee S Judge SM: Inducible HSP70 Is Critical in Preventing the Aggregation and Enhancing the Processing of PMP22. ASN Neuro. 2015;7(1):1-17. 25694550 10.1177/1759091415569909
    • (2015) ASN Neuro , vol.7 , Issue.1 , pp. 1-17
    • Chittoor-Vinod, V.G.1    Lee, S.2    Judge, S.M.3
  • 61
    • 84861812079 scopus 로고    scopus 로고
    • Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease
    • 22551516
    • Fledrich R Stassart RM Sereda MW: Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease. Br Med Bull. 2012;102(1):89-113. 22551516 10.1093/bmb/lds010
    • (2012) Br Med Bull , vol.102 , Issue.1 , pp. 89-113
    • Fledrich, R.1    Stassart, R.M.2    Sereda, M.W.3
  • 62
    • 84896317843 scopus 로고    scopus 로고
    • Nonuniform molecular features of myelinating Schwann cells in models for CMT1: distinct disease patterns are associated with NCAM and c-Jun upregulation
    • 24526449
    • Klein D Groh J Wettmarshausen J: Nonuniform molecular features of myelinating Schwann cells in models for CMT1: distinct disease patterns are associated with NCAM and c-Jun upregulation. Glia. 2014;62(5):736-50. 24526449 10.1002/glia.22638
    • (2014) Glia , vol.62 , Issue.5 , pp. 736-750
    • Klein, D.1    Groh, J.2    Wettmarshausen, J.3
  • 63
    • 84877815662 scopus 로고    scopus 로고
    • Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease
    • 23519028, 3634660
    • Bogdanik LP Sleigh JN Tian C: Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease. Dis Model Mech. 2013;6(3):780-92. 23519028 10.1242/dmm.010942 3634660
    • (2013) Dis Model Mech , vol.6 , Issue.3 , pp. 780-792
    • Bogdanik, L.P.1    Sleigh, J.N.2    Tian, C.3
  • 64
    • 84903265318 scopus 로고    scopus 로고
    • Lack of neuropathy-related phenotypes in hint1 knockout mice
    • 24918641, 4098130
    • Seburn KL Morelli KH Jordanova A: Lack of neuropathy-related phenotypes in hint1 knockout mice. J Neuropathol Exp Neurol. 2014;73(7):693-701. 24918641 10.1097/NEN.0000000000000085 4098130
    • (2014) J Neuropathol Exp Neurol , vol.73 , Issue.7 , pp. 693-701
    • Seburn, K.L.1    Morelli, K.H.2    Jordanova, A.3
  • 65
    • 84879478992 scopus 로고    scopus 로고
    • Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish
    • 23840650, 3694133
    • Chapman AL Bennett EJ Ramesh TM: Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish. PLoS One. 2013;8(6):e67276. 23840650 10.1371/journal.pone.0067276 3694133
    • (2013) PLoS One , vol.8 , Issue.6 , pp. e67276
    • Chapman, A.L.1    Bennett, E.J.2    Ramesh, T.M.3
  • 66
    • 84890407183 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function
    • 24327558, 3857549
    • Cherry S Jin EJ Ozel MN: Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function. Elife. 2013;2:e01064. 24327558 10.7554/eLife.01064 3857549
    • (2013) Elife , vol.2 , pp. e01064
    • Cherry, S.1    Jin, E.J.2    Ozel, M.N.3
  • 67
    • 84894553488 scopus 로고    scopus 로고
    • Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila
    • 24521780
    • Janssens K Goethals S Atkinson D: Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila. Neurobiol Dis. 2014;65:211-9. 24521780 10.1016/j.nbd.2014.01.021
    • (2014) Neurobiol Dis , vol.65 , pp. 211-219
    • Janssens, K.1    Goethals, S.2    Atkinson, D.3
  • 68
    • 84901338850 scopus 로고    scopus 로고
    • CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila
    • 24807208, 4086162
    • Ermanoska B Motley WW Leitão-Gonçalves R: CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila. Neurobiol Dis. 2014;68:180-9. 24807208 10.1016/j.nbd.2014.04.020 4086162
    • (2014) Neurobiol Dis , vol.68 , pp. 180-189
    • Ermanoska, B.1    Motley, W.W.2    Leitão-Gonçalves, R.3
  • 69
    • 67650882733 scopus 로고    scopus 로고
    • Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy
    • 19561293, 2702257
    • Storkebaum E Leitão-Gonçalves R Godenschwege T: Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. Proc Natl Acad Sci U S A. 2009;106(28):11782-7. 19561293 10.1073/pnas.0905339106 2702257
    • (2009) Proc Natl Acad Sci U S A , vol.106 , Issue.28 , pp. 11782-11787
    • Storkebaum, E.1    Leitão-Gonçalves, R.2    Godenschwege, T.3
  • 70
    • 84895502260 scopus 로고    scopus 로고
    • AAV1.NT-3 gene therapy for Charcot-Marie-Tooth neuropathy
    • 24162799, 3944324
    • Sahenk Z Galloway G Clark KR: AAV1.NT-3 gene therapy for Charcot-Marie-Tooth neuropathy. Mol Ther. 2014;22(3):511-21. 24162799 10.1038/mt.2013.250 3944324
    • (2014) Mol Ther , vol.22 , Issue.3 , pp. 511-521
    • Sahenk, Z.1    Galloway, G.2    Clark, K.R.3
  • 71
    • 84874310194 scopus 로고    scopus 로고
    • Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy
    • 23316953
    • Mussche S Devreese B Nagabhushan Kalburgi S: Restoration of cytoskeleton homeostasis after gigaxonin gene transfer for giant axonal neuropathy. Hum Gene Ther. 2013;24(2):209-19. 23316953 10.1089/hum.2012.107
    • (2013) Hum Gene Ther , vol.24 , Issue.2 , pp. 209-219
    • Mussche, S.1    Devreese, B.2    Nagabhushan Kalburgi, S.3
  • 72
    • 84898608302 scopus 로고    scopus 로고
    • iPS cells: a game changer for future medicine
    • 24500035, 3989624
    • Inoue H Nagata N Kurokawa H: iPS cells: a game changer for future medicine. EMBO J. 2014;33(5):409-17. 24500035 10.1002/embj.201387098 3989624
    • (2014) EMBO J , vol.33 , Issue.5 , pp. 409-417
    • Inoue, H.1    Nagata, N.2    Kurokawa, H.3
  • 73
    • 84862528505 scopus 로고    scopus 로고
    • Induced pluripotent stem cells: past, present, and future
    • 22704507
    • Yamanaka S: Induced pluripotent stem cells: past, present, and future. Cell Stem Cell. 2012;10(6):678-84. 22704507 10.1016/j.stem.2012.05.005
    • (2012) Cell Stem Cell , vol.10 , Issue.6 , pp. 678-684
    • Yamanaka, S.1
  • 74
    • 84870900712 scopus 로고    scopus 로고
    • Cellular reprogramming in pursuit of immortality
    • 23217420
    • Surani MA: Cellular reprogramming in pursuit of immortality. Cell Stem Cell. 2012;11(6):748-50. 23217420 10.1016/j.stem.2012.11.014
    • (2012) Cell Stem Cell , vol.11 , Issue.6 , pp. 748-750
    • Surani, M.A.1
  • 75
    • 79955572417 scopus 로고    scopus 로고
    • Harnessing the potential of induced pluripotent stem cells for regenerative medicine
    • 21540845, 3617981
    • Wu SM Hochedlinger K: Harnessing the potential of induced pluripotent stem cells for regenerative medicine. Nat Cell Biol. 2011;13(5):497-505. 21540845 10.1038/ncb0511-497 3617981
    • (2011) Nat Cell Biol , vol.13 , Issue.5 , pp. 497-505
    • Wu, S.M.1    Hochedlinger, K.2
  • 76
    • 84924440715 scopus 로고    scopus 로고
    • Let alIntermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin
    • 25398950
    • Johnson-Kerner BL Ahmad FS Diaz AG: Let alIntermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin. Hum Mol Genet. 2014;24(5):1420-31. 25398950 10.1093/hmg/ddu556
    • (2014) Hum Mol Genet , vol.24 , Issue.5 , pp. 1420-1431
    • Johnson-Kerner, B.L.1    Ahmad, F.S.2    Diaz, A.G.3
  • 77
    • 84949116893 scopus 로고    scopus 로고
    • Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties
    • 25448007, 4262589
    • Saporta MA Dang V Volfson D: Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. Exp Neurol. 2015;263:190-9. 25448007 10.1016/j.expneurol.2014.10.005 4262589
    • (2015) Exp Neurol , vol.263 , pp. 190-199
    • Saporta, M.A.1    Dang, V.2    Volfson, D.3
  • 78
    • 84928686792 scopus 로고    scopus 로고
    • Pluripotent Stem Cells for Schwann Cell Engineering
    • 25433863
    • Ma MS Boddeke E Copray S: Pluripotent Stem Cells for Schwann Cell Engineering. Stem Cell Rev. 2014. 25433863 10.1007/s12015-014-9577-1
    • (2014) Stem Cell Rev
    • Ma, M.S.1    Boddeke, E.2    Copray, S.3
  • 79
    • 84873730046 scopus 로고    scopus 로고
    • Human neural crest stem cells derived from human ESCs and induced pluripotent stem cells: induction, maintenance, and differentiation into functional schwann cells
    • 23197806, 3659695
    • Liu Q Spusta SC Mi R: Human neural crest stem cells derived from human ESCs and induced pluripotent stem cells: induction, maintenance, and differentiation into functional schwann cells. Stem Cells Transl Med. 2012;1(4):266-78. 23197806 10.5966/sctm.2011-0042 3659695
    • (2012) Stem Cells Transl Med , vol.1 , Issue.4 , pp. 266-278
    • Liu, Q.1    Spusta, S.C.2    Mi, R.3
  • 80
    • 84872017233 scopus 로고    scopus 로고
    • Directed differentiation of human pluripotent cells to neural crest stem cells
    • 23288320
    • Menendez L Kulik MJ Page AT: Directed differentiation of human pluripotent cells to neural crest stem cells. Nat Protoc. 2013;8(1):203-12. 23288320 10.1038/nprot.2012.156
    • (2013) Nat Protoc , vol.8 , Issue.1 , pp. 203-212
    • Menendez, L.1    Kulik, M.J.2    Page, A.T.3
  • 81
    • 84924911498 scopus 로고    scopus 로고
    • Bigger data, collaborative tools and the future of predictive drug discovery
    • 24943138, 4198464
    • Ekins S Clark AM Swamidass SJ: Bigger data, collaborative tools and the future of predictive drug discovery. J Comput Aided Mol Des. 2014;28(10):997-1008. 24943138 10.1007/s10822-014-9762-y 4198464
    • (2014) J Comput Aided Mol Des , vol.28 , Issue.10 , pp. 997-1008
    • Ekins, S.1    Clark, A.M.2    Swamidass, S.J.3
  • 82
    • 84922879613 scopus 로고    scopus 로고
    • Databases and collaboration require standards for human stem cell research
    • 25449658
    • Litterman NK Ekins S: Databases and collaboration require standards for human stem cell research. Drug Discov Today. 2015;20(2):247-254. 25449658 10.1016/j.drudis.2014.10.006
    • (2015) Drug Discov Today , vol.20 , Issue.2 , pp. 247-254
    • Litterman, N.K.1    Ekins, S.2
  • 83
    • 84931278180 scopus 로고    scopus 로고
    • NIH Blueprint Neurotherapeutics Network
    • Anon, Reference Source
    • Anon: NIH Blueprint Neurotherapeutics Network. Neuroscience research. 2014. Reference Source
    • (2014) Neuroscience research
  • 84
    • 61849137243 scopus 로고    scopus 로고
    • Novel web-based tools combining chemistry informatics, biology and social networks for drug discovery
    • 19231313
    • Hohn M Gregory K Chibale K: Novel web-based tools combining chemistry informatics, biology and social networks for drug discovery. Drug Discov Today. 2009;14(5-6):261-70. 19231313 10.1016/j.drudis.2008.11.015
    • (2009) Drug Discov Today , vol.14 , Issue.5-6 , pp. 261-270
    • Hohn, M.1    Gregory, K.2    Chibale, K.3
  • 85
    • 79953695916 scopus 로고    scopus 로고
    • In silico repositioning of approved drugs for rare and neglected diseases
    • 21376136
    • Ekins S Williams AJ Krasowski MD In silico repositioning of approved drugs for rare and neglected diseases. Drug Discov Today. 2011;16(7-8):298-310. 21376136 10.1016/j.drudis.2011.02.016
    • (2011) Drug Discov Today , vol.16 , Issue.7-8 , pp. 298-310
    • Ekins, S.1    Williams, A.J.2    Krasowski, M.D.3
  • 86
    • 84908224272 scopus 로고    scopus 로고
    • Computational prediction and validation of an expert's evaluation of chemical probes
    • 25244007
    • Litterman NK Lipinski CA Bunin BA: Computational prediction and validation of an expert's evaluation of chemical probes. J Chem Inf Model. 2014;54(10):2996-3004. 25244007 10.1021/ci500445u
    • (2014) J Chem Inf Model , vol.54 , Issue.10 , pp. 2996-3004
    • Litterman, N.K.1    Lipinski, C.A.2    Bunin, B.A.3
  • 87
    • 84925965291 scopus 로고    scopus 로고
    • Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases
    • 25253751, 4222857
    • Dortch RD Dethrage LM Gore JC: Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases. Neurology. 2014;83(17):1545-53. 25253751 10.1212/WNL.0000000000000919 4222857
    • (2014) Neurology , vol.83 , Issue.17 , pp. 1545-1553
    • Dortch, R.D.1    Dethrage, L.M.2    Gore, J.C.3
  • 88
    • 84940645158 scopus 로고    scopus 로고
    • CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
    • 25430934
    • Fridman V Bundy B Reilly MM: CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry. 2014. 25430934 10.1136/jnnp-2014-308826
    • (2014) J Neurol Neurosurg Psychiatry
    • Fridman, V.1    Bundy, B.2    Reilly, M.M.3
  • 89
    • 84931278181 scopus 로고    scopus 로고
    • Addex Announces Positive Data with ADX71441 in a Pre-Clinical Transgenic Model of Charcot-Marie-Tooth 1A Disease
    • Reference Source, Addex press release.
    • Anon. Addex Announces Positive Data with ADX71441 in a Pre-Clinical Transgenic Model of Charcot-Marie-Tooth 1A Disease, Addex press release.2013. Reference Source
    • (2013)
  • 90
    • 84924985851 scopus 로고    scopus 로고
    • Polytherapy with a combination of three repurposed drugs (PXT-3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy
    • 25491744, 4279797
    • Chumakov I Milet A Cholet N: Polytherapy with a combination of three repurposed drugs (PXT-3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy. Orphanet J Rare Dis. 2014;9(1):201. 25491744 10.1186/s13023-014-0201-x 4279797
    • (2014) Orphanet J Rare Dis , vol.9 , Issue.1 , pp. 201
    • Chumakov, I.1    Milet, A.2    Cholet, N.3
  • 91
    • 84979562049 scopus 로고    scopus 로고
    • An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT-3003) in patients with Charcot-Marie-Tooth disease type 1A
    • 25519680, 4311411
    • Attarian S Vallat JM Magy L: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT-3003) in patients with Charcot-Marie-Tooth disease type 1A. Orphanet J Rare Dis. 2014;9(1):199. 25519680 10.1186/s13023-014-0199-0 4311411
    • (2014) Orphanet J Rare Dis , vol.9 , Issue.1 , pp. 199
    • Attarian, S.1    Vallat, J.M.2    Magy, L.3
  • 92
    • 84908416319 scopus 로고    scopus 로고
    • Intensity and duration of activity bouts decreases in healthy children between 7 and 13 years of age a new higher resolution method to analyze StepWatch Activity Monitor data
    • Jr, 25340461
    • Tulchin-Francis KW Stevens W Jr Jeans KA: Intensity and duration of activity bouts decreases in healthy children between 7 and 13 years of age a new higher resolution method to analyze StepWatch Activity Monitor data. Physiol Meas. 2014;35(11):2239-54. 25340461 10.1088/0967-3334/35/11/2239
    • (2014) Physiol Meas , vol.35 , Issue.11 , pp. 2239-2254
    • Tulchin-Francis, K.W.1    Stevens, W.2    Jeans, K.A.3
  • 93
    • 79955120291 scopus 로고    scopus 로고
    • Validity of the StepWatch Step Activity Monitor: preliminary findings for use in persons with Parkinson disease and multiple sclerosis
    • 21937891
    • Schmidt AL Pennypacker ML Thrush AH: Validity of the StepWatch Step Activity Monitor: preliminary findings for use in persons with Parkinson disease and multiple sclerosis. J Geriatr Phys Ther. 2011;34(1):41-5. 21937891 10.1519/JPT.0b013e31820aa921
    • (2011) J Geriatr Phys Ther , vol.34 , Issue.1 , pp. 41-45
    • Schmidt, A.L.1    Pennypacker, M.L.2    Thrush, A.H.3
  • 94
    • 84922276682 scopus 로고    scopus 로고
    • Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients
    • 25085517
    • Mannil M Solari A Leha A: Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients. Neuromuscul Disord. 2014;24(11):1003-17. 25085517 10.1016/j.nmd.2014.06.431
    • (2014) Neuromuscul Disord , vol.24 , Issue.11 , pp. 1003-1017
    • Mannil, M.1    Solari, A.2    Leha, A.3
  • 95
    • 84901631612 scopus 로고    scopus 로고
    • Rehabilitation for Charcot-Marie-Tooth: a survey study of patients and familiar/caregiver perspective and perception of efficacy and needs
    • 24285024
    • Padua L Pazzaglia C Schenone A: Rehabilitation for Charcot-Marie-Tooth: a survey study of patients and familiar/caregiver perspective and perception of efficacy and needs. Eur J Phys Rehabil Med. 2014;50(1):25-30. 24285024
    • (2014) Eur J Phys Rehabil Med , vol.50 , Issue.1 , pp. 25-30
    • Padua, L.1    Pazzaglia, C.2    Schenone, A.3
  • 96
    • 0029686945 scopus 로고    scopus 로고
    • Quality-of-life end points in cancer clinical trials: the U.S. Food and Drug Administration perspective
    • 8750460
    • Beitz J Gnecco C Justice R: Quality-of-life end points in cancer clinical trials: the U.S. Food and Drug Administration perspective. J Natl Cancer Inst Monogr. 1996;20:7-9. 8750460
    • (1996) J Natl Cancer Inst Monogr , vol.20 , pp. 7-9
    • Beitz, J.1    Gnecco, C.2    Justice, R.3
  • 97
    • 0242574502 scopus 로고    scopus 로고
    • Quality of life terminology included in package inserts for US approved medications
    • 14651428
    • Shah SN Sesti AM Copley-Merriman K: Quality of life terminology included in package inserts for US approved medications. Qual Life Res. 2003;12(8):1107-17. 14651428 10.1023/A:1026187402267
    • (2003) Qual Life Res , vol.12 , Issue.8 , pp. 1107-1117
    • Shah, S.N.1    Sesti, A.M.2    Copley-Merriman, K.3
  • 98
    • 84892623065 scopus 로고    scopus 로고
    • Clinical spectrum and gender differences in a large cohort of Charcot-Marie-Tooth type 1A patients
    • 24246498
    • Colomban C Micallef J Lefebvre MN: Clinical spectrum and gender differences in a large cohort of Charcot-Marie-Tooth type 1A patients. J Neurol Sci. 2014;336(1-2):155-60. 24246498 10.1016/j.jns.2013.10.029
    • (2014) J Neurol Sci , vol.336 , Issue.1-2 , pp. 155-160
    • Colomban, C.1    Micallef, J.2    Lefebvre, M.N.3
  • 99
    • 84895764989 scopus 로고    scopus 로고
    • Effect of pain in pediatric inherited neuropathies
    • 24477108, 3945655
    • Ramchandren S Jaiswal M Feldman E: Effect of pain in pediatric inherited neuropathies. Neurology. 2014;82(9):793-7. 24477108 10.1212/WNL.0000000000000173 3945655
    • (2014) Neurology , vol.82 , Issue.9 , pp. 793-797
    • Ramchandren, S.1    Jaiswal, M.2    Feldman, E.3
  • 100
    • 84874692543 scopus 로고    scopus 로고
    • Four disruptive strategies for removing drug discovery bottlenecks
    • 23098820
    • Ekins S Waller CL Bradley MP: Four disruptive strategies for removing drug discovery bottlenecks. Drug Disc Today. 2013;18(5-6):265-271. 23098820 10.1016/j.drudis.2012.10.007
    • (2013) Drug Disc Today , vol.18 , Issue.5-6 , pp. 265-271
    • Ekins, S.1    Waller, C.L.2    Bradley, M.P.3
  • 101
    • 80055011529 scopus 로고    scopus 로고
    • Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
    • 22003934, 3754828
    • Murphy SM Herrmann DN McDermott MP: Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011;16(3):191-8. 22003934 10.1111/j.1529-8027.2011.00350.x 3754828
    • (2011) J Peripher Nerv Syst , vol.16 , Issue.3 , pp. 191-198
    • Murphy, S.M.1    Herrmann, D.N.2    McDermott, M.P.3
  • 102
    • 84912125826 scopus 로고    scopus 로고
    • Meal frequency and timing in health and disease
    • 25404320, 4250148
    • Mattson MP Allisonc DB Fontana L: Meal frequency and timing in health and disease. Proc Natl Acad Sci U S A. 2014;111(47):16647-53. 25404320 10.1073/pnas.1413965111 4250148
    • (2014) Proc Natl Acad Sci U S A , vol.111 , Issue.47 , pp. 16647-16653
    • Mattson, M.P.1    Allisonc, D.B.2    Fontana, L.3
  • 103
    • 53949085980 scopus 로고    scopus 로고
    • Ascorbic acid is a regulator of the intracellular cAMP concentration: old molecule, new functions?
    • 18835269
    • Kaya F Belin S Diamantidis G: Ascorbic acid is a regulator of the intracellular cAMP concentration: old molecule, new functions? FEBS Lett. 2008;582(25-26):3614-8. 18835269 10.1016/j.febslet.2008.09.040
    • (2008) FEBS Lett , vol.582 , Issue.25-26 , pp. 3614-3618
    • Kaya, F.1    Belin, S.2    Diamantidis, G.3
  • 104
    • 84931278182 scopus 로고    scopus 로고
    • Dose Dependently Reduced PMP22 Expression Comparable to Baclofen in a Pre-Clinical Transgenic Model of Charcot-Marie-Tooth 1A Disease
    • Reference Source
    • Anon. Dose Dependently Reduced PMP22 Expression Comparable to Baclofen in a Pre-Clinical Transgenic Model of Charcot-Marie-Tooth 1A Disease. Addex Therapeutics. 2013. Reference Source
    • (2013) Addex Therapeutics


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