| Year |
Citation |
Score |
| 2024 |
Touvier T, Veneri FA, Claessens A, Ferri C, Mastrangelo R, Sorgiati N, Bianchi F, Valenzano S, Del Carro U, Rivellini C, Duong P, Shy ME, Kelly JW, Svaren J, Wiseman RL, et al. Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B. Biorxiv : the Preprint Server For Biology. PMID 38352425 DOI: 10.1101/2024.01.31.577760 |
0.326 |
|
| 2023 |
Sondheimer N, Aleman A, Cameron J, Gonorazky H, Sabha N, Oliveira P, Amburgey K, Wahedi A, Wang D, Shy M, Dowling JJ. Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy. Hgg Advances. 4: 100182. PMID 36845668 DOI: 10.1016/j.xhgg.2023.100182 |
0.325 |
|
| 2023 |
Horvath R, Medina J, Reilly MM, Shy ME, Zuchner S. Peripheral neuropathy in mitochondrial disease. Handbook of Clinical Neurology. 194: 99-116. PMID 36813324 DOI: 10.1016/B978-0-12-821751-1.00014-2 |
0.304 |
|
| 2022 |
Bai Y, Treins C, Volpi VG, Scapin C, Ferri C, Mastrangelo R, Touvier T, Florio F, Bianchi F, Del Carro U, Baas FF, Wang D, Miniou P, Guedat P, Shy ME, et al. Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice. Molecular Neurobiology. PMID 35501630 DOI: 10.1007/s12035-022-02838-y |
0.324 |
|
| 2021 |
Howard P, Feely SME, Grider T, Bacha A, Scarlato M, Fazio R, Quattrini A, Shy ME, Previtali SC. Loss of function MPZ mutation causes milder CMT1B neuropathy. Journal of the Peripheral Nervous System : Jpns. PMID 33960567 DOI: 10.1111/jns.12452 |
0.597 |
|
| 2021 |
Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, ... ... Shy ME, et al. A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain : a Journal of Neurology. PMID 33889941 DOI: 10.1093/brain/awab019 |
0.385 |
|
| 2019 |
Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME. Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. Neuromolecular Medicine. PMID 31468327 DOI: 10.1007/s12017-019-08564-4 |
0.311 |
|
| 2019 |
Callegari I, Gemelli C, Geroldi A, Veneri F, Mandich P, D'Antonio M, Pareyson D, Shy ME, Schenone A, Prada V, Grandis M. Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype. Journal of Neurology. 266: 2629-2645. PMID 31278453 DOI: 10.1007/s00415-019-09453-3 |
0.333 |
|
| 2019 |
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, ... ... Shy ME, et al. A multicentre retrospective study of Charcot-Marie-Tooth disease type 4B (CMT4B) due to mutations in Myotubularin-related proteins (MTMRs). Annals of Neurology. PMID 31070812 DOI: 10.1002/Ana.25500 |
0.588 |
|
| 2018 |
Fratta P, Ornaghi F, Dati G, Zambroni D, Saveri P, Belin S, D'Adamo P, Shy M, Quattrini A, Laura Feltri M, Wrabetz L. A nonsense mutation in Myelin Protein Zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. Human Molecular Genetics. PMID 30239779 DOI: 10.1093/Hmg/Ddy336 |
0.665 |
|
| 2018 |
Bai Y, Wu X, Brennan KM, Wang DS, D'Antonio M, Moran J, Svaren J, Shy ME. Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. Annals of Clinical and Translational Neurology. 5: 445-455. PMID 29687021 DOI: 10.1002/Acn3.543 |
0.302 |
|
| 2018 |
Hu B, Mccollum M, Ravi V, Arpag S, Moiseev D, Castoro R, Mobley BC, Burnette BW, Siskind C, Day JW, Yawn R, Feely S, Li Y, Yan Q, Shy ME, et al. Myelin Abnormality in CMT4J Recapitulates Features of Acquired Demyelination. Annals of Neurology. PMID 29518270 DOI: 10.1002/Ana.25198 |
0.443 |
|
| 2018 |
Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, ... ... Shy ME, et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. American Journal of Human Genetics. 102: 505-514. PMID 29499166 DOI: 10.1016/J.Ajhg.2018.01.023 |
0.307 |
|
| 2018 |
Rebelo A, Dimah S, Pereira C, Farooq A, Huff T, Abreu L, Moraes C, Mnatsakanova D, Mathews K, Yang H, Schon E, Zuchner S, Shy M. Erratum: SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency (Brain (2018) 141 (662-672) DOI: 10.1093/brain/awx369) Brain. 141. PMID 29471376 DOI: 10.1093/Brain/Awy032 |
0.361 |
|
| 2017 |
Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, et al. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Human Mutation. PMID 29235198 DOI: 10.1002/Humu.23380 |
0.311 |
|
| 2017 |
Shy M, Rebelo AP, Feely SM, Abreu LA, Tao F, Swenson A, Bacon C, Zuchner S. Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 28754666 DOI: 10.1136/Jnnp-2017-315929 |
0.416 |
|
| 2017 |
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, ... ... Shy M, et al. Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 28501821 DOI: 10.1136/Jnnp-2016-315077 |
0.336 |
|
| 2017 |
Wang DS, Wu X, Bai Y, Zaidman C, Grider T, Kamholz J, Lupski JR, Connolly AM, Shy ME. PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E. Annals of Clinical and Translational Neurology. 4: 236-245. PMID 28382305 DOI: 10.1002/Acn3.395 |
0.324 |
|
| 2015 |
Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, ... ... Shy ME, et al. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain : a Journal of Neurology. 138: 3180-92. PMID 26310628 DOI: 10.1093/Brain/Awv241 |
0.328 |
|
| 2015 |
Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, ... ... Shy M, et al. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Reports. 12: 1169-83. PMID 26257172 DOI: 10.1016/J.Celrep.2015.07.023 |
0.373 |
|
| 2015 |
Brennan KM, Bai Y, Pisciotta C, Wang S, Feely SM, Hoegger M, Gutmann L, Moore SA, Gonzalez M, Sherman DL, Brophy PJ, Züchner S, Shy ME. Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. Neuromuscular Disorders : Nmd. PMID 26227883 DOI: 10.1016/J.Nmd.2015.07.001 |
0.367 |
|
| 2015 |
Saporta MA, Dang V, Volfson D, Zou B, Xie XS, Adebola A, Liem RK, Shy M, Dimos JT. Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. Experimental Neurology. 263: 190-9. PMID 25448007 DOI: 10.1016/J.Expneurol.2014.10.005 |
0.448 |
|
| 2013 |
Bai Y, Patzko A, Shy ME. Unfolded protein response, treatment and CMT1B. Rare Diseases (Austin, Tex.). 1: e24049. PMID 25002989 DOI: 10.4161/rdis.24049 |
0.365 |
|
| 2012 |
Patzkó A, Bai Y, Saporta MA, Katona I, Wu X, Vizzuso D, Feltri ML, Wang S, Dillon LM, Kamholz J, Kirschner D, Sarkar FH, Wrabetz L, Shy ME. Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain : a Journal of Neurology. 135: 3551-66. PMID 23250879 DOI: 10.1093/Brain/Aws299 |
0.702 |
|
| 2012 |
Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, ... Shy ME, et al. MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain : a Journal of Neurology. 135: 2032-47. PMID 22689911 DOI: 10.1093/Brain/Aws140 |
0.712 |
|
| 2012 |
Prada V, Passalacqua M, Bono M, Luzzi P, Scazzola S, Nobbio LA, Capponi S, Bellone E, Mandich P, Mancardi G, Shy M, Schenone A, Grandis M. Gain of glycosylation: a new pathomechanism of myelin protein zero mutations. Annals of Neurology. 71: 427-31. PMID 22451207 DOI: 10.1002/Ana.22695 |
0.45 |
|
| 2012 |
Siskind C, Speziani F, Gonzalez M, Blanton S, Shy M, Zuchner S. Exome Sequencing Identifies a New Locus for DI-CMT (P05.143) Neurology. 78: P05.143-P05.143. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P05.143 |
0.331 |
|
| 2012 |
Saporta M, Volfson D, Adebola A, Shy M, Liem R, Dimos J. Abnormal Mitochondrial Trafficking and Cytoskeletal Organization in a Human Induced Pluripotent Stem Cell and a Mouse Model of Charcot-Marie-Tooth Disease Type 2E (IN7-2.001) Neurology. 78: IN7-2.001-IN7-2.001. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In7-2.001 |
0.35 |
|
| 2012 |
Patzko A, Kamholz J, Sohi J, Tinelli E, Saveri P, Vizzuso D, Feltri L, Wrabetz L, Shy M. A Screening Assay for Myelin Protein Zero Mutants: Unfolded Protein Response Activation and Its Significant Reduction by Curcumin Treatment (IN1-1.001) Neurology. 78: IN1-1.001-IN1-1.001. DOI: 10.1212/Wnl.78.1_Meetingabstracts.In1-1.001 |
0.606 |
|
| 2011 |
Shy ME. Inherited peripheral neuropathies. Continuum (Minneapolis, Minn.). 17: 294-315. PMID 22810821 DOI: 10.1212/01.CON.0000396963.75069.66 |
0.317 |
|
| 2011 |
Saporta MA, Katona I, Zhang X, Roper HP, McClelland L, Macdonald F, Brueton L, Blake J, Suter U, Reilly MM, Shy ME, Li J. Neuropathy in a human without the PMP22 gene. Archives of Neurology. 68: 814-21. PMID 21670407 DOI: 10.1001/Archneurol.2011.110 |
0.306 |
|
| 2011 |
Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Züchner S. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Annals of Neurology. 69: 464-70. PMID 21254193 DOI: 10.1002/Ana.22235 |
0.34 |
|
| 2011 |
Patzkó A, Shy ME. Update on Charcot-Marie-Tooth disease. Current Neurology and Neuroscience Reports. 11: 78-88. PMID 21080241 DOI: 10.1007/s11910-010-0158-7 |
0.307 |
|
| 2010 |
Bai Y, Zhang X, Katona I, Saporta MA, Shy ME, O'Malley HA, Isom LL, Suter U, Li J. Conduction block in PMP22 deficiency. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 600-8. PMID 20071523 DOI: 10.1523/Jneurosci.4264-09.2010 |
0.333 |
|
| 2009 |
Nicholson G, Kennerson M, Brewer M, Garbern J, Shy M. Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes. Advances in Experimental Medicine and Biology. 652: 201-6. PMID 20225027 DOI: 10.1007/978-90-481-2813-6_13 |
0.335 |
|
| 2009 |
Saporta MA, Katona I, Lewis RA, Masse S, Shy ME, Li J. Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. Brain : a Journal of Neurology. 132: 3263-73. PMID 19923170 DOI: 10.1093/brain/awp274 |
0.303 |
|
| 2009 |
Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. Journal of Neurology, Neurosurgery, and Psychiatry. 80: 1304-14. PMID 19917815 DOI: 10.1136/Jnnp.2008.158295 |
0.319 |
|
| 2009 |
Katona I, Wu X, Feely SM, Sottile S, Siskind CE, Miller LJ, Shy ME, Li J. PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain : a Journal of Neurology. 132: 1734-40. PMID 19447823 DOI: 10.1093/brain/awp113 |
0.321 |
|
| 2009 |
Siskind C, Feely SM, Bernes S, Shy ME, Garbern JY. Persistent CNS dysfunction in a boy with CMT1X. Journal of the Neurological Sciences. 279: 109-13. PMID 19193385 DOI: 10.1016/j.jns.2008.12.031 |
0.319 |
|
| 2009 |
Kennerson M, Nicholson G, Kowalski B, Krajewski K, El-Khechen D, Feely S, Chu S, Shy M, Garbern J. X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21. Neurology. 72: 246-52. PMID 19153371 DOI: 10.1212/01.Wnl.0000339483.86094.A5 |
0.322 |
|
| 2009 |
Crowther M, Shy B, Luoma AM, Wrabetz L, Shy ME, Kirschner DA. Myelin Structural Integrity in a Model for Human Early-Onset CMT1B Biophysical Journal. 96: 461a. DOI: 10.1016/J.Bpj.2008.12.2371 |
0.63 |
|
| 2008 |
Gooch C, Shy M. Hereditary motor neuropathy and heat shock proteins: a shocking transformation. Neurology. 71: 1656-7. PMID 19015482 DOI: 10.1212/01.Wnl.0000335150.23712.3D |
0.362 |
|
| 2008 |
Grandis M, Vigo T, Passalacqua M, Jain M, Scazzola S, La Padula V, Brucal M, Benvenuto F, Nobbio L, Cadoni A, Mancardi GL, Kamholz J, Shy ME, Schenone A. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Human Molecular Genetics. 17: 1877-89. PMID 18337304 DOI: 10.1093/Hmg/Ddn083 |
0.345 |
|
| 2007 |
Li J, Ghandour K, Radovanovic D, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Archives of Neurology. 64: 974-8. PMID 17620487 DOI: 10.1001/archneur.64.7.974 |
0.303 |
|
| 2007 |
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 448: 68-72. PMID 17572665 DOI: 10.1038/Nature05876 |
0.304 |
|
| 2007 |
Gaboreanu AM, Hrstka R, Xu W, Shy M, Kamholz J, Lilien J, Balsamo J. Myelin protein zero/P0 phosphorylation and function require an adaptor protein linking it to RACK1 and PKC alpha. The Journal of Cell Biology. 177: 707-16. PMID 17502419 DOI: 10.1083/Jcb.200608060 |
0.399 |
|
| 2007 |
Shy ME, Kamholz J. Mutations in Schwann cell genes causing inherited neuropathies The Biology of Schwann Cells: Development, Differentiation and Immunomodulation. 126-157. DOI: 10.1017/CBO9780511541605.009 |
0.337 |
|
| 2007 |
Kamholz JA, Brucal M, Li J, Shy M. Myelin Protein Zero and CMT1B. A Tale of two Phenotypes Molecular Neurology. 463-474. DOI: 10.1016/B978-012369509-3.50031-7 |
0.306 |
|
| 2006 |
Bai Y, Ianokova E, Pu Q, Ghandour K, Levinson R, Martin JJ, Ceuterick-de Groote C, Mazanec R, Seeman P, Shy ME, Li J. Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Archives of Neurology. 63: 1787-94. PMID 17172621 DOI: 10.1001/archneur.63.12.1787 |
0.363 |
|
| 2006 |
Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F. Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B Neurology. 67: 1141-1146. PMID 17030746 DOI: 10.1212/01.Wnl.0000238499.37764.B1 |
0.355 |
|
| 2006 |
Li J, Bai Y, Ianakova E, Grandis M, Uchwat F, Trostinskaia A, Krajewski KM, Garbern J, Kupsky WJ, Shy ME. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. The Journal of Comparative Neurology. 498: 252-65. PMID 16856127 DOI: 10.1002/cne.21051 |
0.373 |
|
| 2006 |
Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, ... ... Shy ME, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain : a Journal of Neurology. 129: 2093-102. PMID 16714318 DOI: 10.1093/Brain/Awl126 |
0.328 |
|
| 2006 |
Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, ... ... Shy M, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Annals of Neurology. 59: 276-81. PMID 16437557 DOI: 10.1002/Ana.20797 |
0.392 |
|
| 2006 |
Shy ME. Peripheral neuropathies caused by mutations in the myelin protein zero. Journal of the Neurological Sciences. 242: 55-66. PMID 16414078 DOI: 10.1016/j.jns.2005.11.015 |
0.382 |
|
| 2005 |
Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Human Mutation. 25: 372-83. PMID 15776429 DOI: 10.1002/Humu.20153 |
0.311 |
|
| 2005 |
Li J, Bai Y, Ghandour K, Qin P, Grandis M, Trostinskaia A, Ianakova E, Wu X, Schenone A, Vallat JM, Kupsky WJ, Hatfield J, Shy ME. Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. Brain : a Journal of Neurology. 128: 1168-77. PMID 15774502 DOI: 10.1093/brain/awh483 |
0.337 |
|
| 2004 |
Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J. Phenotypic clustering in MPZ mutations. Brain : a Journal of Neurology. 127: 371-84. PMID 14711881 DOI: 10.1093/Brain/Awh048 |
0.37 |
|
| 2004 |
Grandis M, Jain M, Padula VL, Balsamo J, Lilien J, Kamholz J, Schenone A, Shy M. Mutations disrupting extracellular structure of MPZ cause early onset severe forms of CMT1B Journal of the Peripheral Nervous System. 9: 111-112. DOI: 10.1111/J.1085-9489.2004.009209Y.X |
0.382 |
|
| 2003 |
Shy ME, Hobson G, Jain M, Boespflug-Tanguy O, Garbern J, Sperle K, Li W, Gow A, Rodriguez D, Bertini E, Mancias P, Krajewski K, Lewis R, Kamholz J. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Annals of Neurology. 53: 354-65. PMID 12601703 DOI: 10.1002/Ana.10466 |
0.363 |
|
| 2003 |
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain : a Journal of Neurology. 126: 590-7. PMID 12566280 DOI: 10.1093/Brain/Awg059 |
0.453 |
|
| 2002 |
Shy ME, Garbern JY, Kamholz J. Hereditary motor and sensory neuropathies: a biological perspective. The Lancet. Neurology. 1: 110-8. PMID 12849515 DOI: 10.1016/S1474-4422(02)00042-X |
0.371 |
|
| 2002 |
Salles J, Sargueil F, Knoll-Gellida A, Witters LA, Shy M, Jiang H, Cassagne C, Garbay B. Fatty acid synthase expression during peripheral nervous system myelination. Brain Research. Molecular Brain Research. 101: 52-8. PMID 12007831 DOI: 10.1016/S0169-328X(02)00161-4 |
0.407 |
|
| 2002 |
Garbern JY, Yool DA, Moore GJ, Wilds IB, Faulk MW, Klugmann M, Nave KA, Sistermans EA, van der Knaap MS, Bird TD, Shy ME, Kamholz JA, Griffiths IR. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain : a Journal of Neurology. 125: 551-61. PMID 11872612 DOI: 10.1093/Brain/Awf043 |
0.327 |
|
| 2002 |
Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Annals of Neurology. 51: 190-201. PMID 11835375 DOI: 10.1002/Ana.10089 |
0.46 |
|
| 2001 |
Shy ME, Balsamo J, Lilien J, Kamholz J. A molecular basis for hereditary motor and sensory neuropathy disorders Current Neurology and Neuroscience Reports. 1: 77-88. PMID 11898503 DOI: 10.1007/S11910-001-0079-6 |
0.311 |
|
| 2001 |
Xu W, Shy M, Kamholz J, Elferink L, Xu G, Lilien J, Balsamo J. Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. The Journal of Cell Biology. 155: 439-46. PMID 11673479 DOI: 10.1083/Jcb.200107114 |
0.382 |
|
| 2000 |
Lewis RA, Sumner AJ, Shy ME. Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis. Muscle & Nerve. 23: 1472-87. PMID 11003782 DOI: 10.1002/1097-4598(200010)23:10<1472::AID-MUS3>3.0.CO;2-# |
0.381 |
|
| 2000 |
Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, Kamholz J, Shy ME. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A Brain. 123: 1516-1527. PMID 10869062 DOI: 10.1046/J.1529-8027.2001.01008-6.X |
0.405 |
|
| 2000 |
Kamholz J, Menichella D, Jani A, Garbern J, Lewis RA, Krajewski KM, Lilien J, Scherer SS, Shy ME. Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Brain : a Journal of Neurology. 123: 222-33. PMID 10648431 DOI: 10.1093/Brain/123.2.222 |
0.343 |
|
| 1999 |
Kamholz J, Awatramani R, Menichella D, Jiang H, Xu W, Shy M. Regulation of Myelin-Specific Gene Expression: Relevance to CMT1. Annals of the New York Academy of Sciences. 883: 91-108. PMID 29086995 DOI: 10.1111/J.1749-6632.1999.Tb08572.X |
0.484 |
|
| 1999 |
Garbern JY, Cambi F, Lewis R, Shy M, Sima A, Kraft G, Vallat JM, Bosch EP, Hodes ME, Dlouhy S, Raskind W, Bird T, Macklin W, Kamholz J. Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations. Annals of the New York Academy of Sciences. 883: 351-365. PMID 29086946 DOI: 10.1111/J.1749-6632.1999.Tb08597.X |
0.461 |
|
| 1999 |
Menichella DM, Xu W, Jiang H, Sohi J, Vallat JM, Baron P, Kamholz J, Shy M. The Absence of Myelin P0 Protein Produces a Novel Molecular Phenotype in Schwann Cell. Annals of the New York Academy of Sciences. 883: 281-293. PMID 29086945 DOI: 10.1111/J.1749-6632.1999.Tb08590.X |
0.462 |
|
| 1999 |
Garbern J, Cambi F, Shy M, Kamholz J. The molecular pathogenesis of Pelizaeus-Merzbacher disease Archives of Neurology. 56: 1210-1214. PMID 10520936 DOI: 10.1001/Archneur.56.10.1210 |
0.331 |
|
| 1999 |
Cheng HL, Shy M, Feldman EL. Regulation of insulin-like growth factor-binding protein-5 expression during schwann cell differentiation Endocrinology. 140: 4478-4485. PMID 10499501 DOI: 10.1210/Endo.140.10.7051 |
0.302 |
|
| 1998 |
Garbay B, Boiron-Sargueil F, Shy M, Chbihi T, Jiang H, Kamholz J, Cassagne C. Regulation of oleoyl-CoA synthesis in the peripheral nervous system: Demonstration of a link with myelin synthesis Journal of Neurochemistry. 71: 1719-1726. PMID 9751207 DOI: 10.1046/J.1471-4159.1998.71041719.X |
0.438 |
|
| 1998 |
Dyck PJ, Dyck PJ, Kennedy WR, Kesserwani H, Melanson M, Ochoa J, Shy M, Stevens JC, Suarez GA, O'Brien PC. Limitations of quantitative sensory testing when patients are biased toward a bad outcome. Neurology. 50: 1213. PMID 9595965 DOI: 10.1212/Wnl.50.5.1213 |
0.336 |
|
| 1997 |
Garbern JY, Cambi F, Tang XM, Sima AA, Vallat JM, Bosch EP, Lewis R, Shy M, Sohi J, Kraft G, Chen KL, Joshi I, Leonard DG, Johnson W, Raskind W, et al. Proteolipid protein is necessary in peripheral as well as central myelin. Neuron. 19: 205-18. PMID 9247276 DOI: 10.1016/S0896-6273(00)80360-8 |
0.498 |
|
| 1996 |
Shy ME, Shi Y, Wrabetz L, Kamholz J, Scherer SS. Axon-Schwann cell interactions regulate the expression of c-jun in Schwann cells. Journal of Neuroscience Research. 43: 511-25. PMID 8833086 DOI: 10.1002/(Sici)1097-4547(19960301)43:5<511::Aid-Jnr1>3.0.Co;2-L |
0.588 |
|
| 1995 |
Shy ME, Tani M, Shi YJ, Whyatt SA, Chbihi T, Scherer SS, Kamholz J. An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve. Annals of Neurology. 38: 429-36. PMID 7668829 DOI: 10.1002/Ana.410380313 |
0.308 |
|
| 1994 |
Baron P, Shy M, Kamholz J, Scarlato G, Pleasure D. Expression of P0 protein mRNA along rat sciatic nerve during development Developmental Brain Research. 83: 285-288. PMID 7535206 DOI: 10.1016/0165-3806(94)00149-9 |
0.378 |
|
| 1994 |
Baron P, Shy M, Honda H, Sessa M, Kamholz J, Pleasure D. Developmental expression of P0 mRNA and P0 protein in the sciatic nerve and the spinal nerve roots of the rat Journal of Neurocytology. 23: 249-257. PMID 7518505 DOI: 10.1007/Bf01275529 |
0.445 |
|
| 1993 |
Baron P, Kamholz J, Scherer S, Honda H, Shy M, Scarpini E, Scarlato G, Pleasure D. Appearance of PLP mRNA in Specific Regions of the Developing Rat Lumbosacral Spinal Cord as Revealed by in Situ Hybridization Experimental Neurology. 121: 139-147. PMID 7684334 DOI: 10.1006/Exnr.1993.1080 |
0.307 |
|
| 1992 |
Kamholz J, Sessa M, Scherer S, Vogelbacker H, Mokuno K, Baron P, Wrabetz L, Shy M, Pleasure D. Structure and expression of proteolipid protein in the peripheral nervous system Journal of Neuroscience Research. 31: 231-244. PMID 1374129 DOI: 10.1002/Jnr.490310204 |
0.629 |
|
| 1992 |
Feltri ML, Scherer SS, Wrabetz L, Kamholz J, Shy ME. Mitogen-expanded Schwann cells retain the capacity to myelinate regenerating axons after transplantation into rat sciatic nerve. Proceedings of the National Academy of Sciences of the United States of America. 89: 8827-31. PMID 1326765 DOI: 10.1073/Pnas.89.18.8827 |
0.683 |
|
| 1990 |
Baron P, Shy M, Honda H, Sessa M, Conti G, Feltri ML, Pleasure D, Kamholz J. Distribution of PLP and P0 mRNA during rat peripheral nerve development Annals of the New York Academy of Sciences. 605: 375-376. DOI: 10.1111/J.1749-6632.1990.Tb42417.X |
0.339 |
|
| 1990 |
BARON P, SHY M, HONDA H, SESSA M, CONTI G, FELTRI ML, PLEASURE D, KAMHOLZ J. Distribution of PLP and P0mRNA during Rat Peripheral Nerve Development Annals of the New York Academy of Sciences. 605: 375-376. DOI: 10.1111/j.1749-6632.1990.tb42417.x |
0.528 |
|
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