| Year |
Citation |
Score |
| 2024 |
Kosmanopoulos G, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, et al. TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain : a Journal of Neurology. PMID 38917025 DOI: 10.1093/brain/awae201 |
0.522 |
|
| 2023 |
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, et al. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain : a Journal of Neurology. PMID 37284795 DOI: 10.1093/brain/awad187 |
0.5 |
|
| 2023 |
Rehbein T, Wu TT, Treidler S, Pareyson D, Lewis R, Yum SW, McCray BA, Ramchandren S, Burns J, Li J, Finkel RS, Scherer SS, Zuchner S, Shy ME, Reilly MM, et al. Neuropathy due to bi-allelic SH3TC2 variants: Genotype-phenotype correlation and natural history. Brain : a Journal of Neurology. PMID 36947133 DOI: 10.1093/brain/awad095 |
0.522 |
|
| 2022 |
Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laurá M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, ... ... Yum SW, et al. Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study. Annals of Neurology. PMID 36203352 DOI: 10.1002/ana.26518 |
0.518 |
|
| 2021 |
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, ... ... Yum SW, et al. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain : a Journal of Neurology. PMID 33559681 DOI: 10.1093/brain/awaa420 |
0.306 |
|
| 2021 |
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, et al. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain : a Journal of Neurology. PMID 33415332 DOI: 10.1093/brain/awaa323 |
0.516 |
|
| 2020 |
Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, ... ... Yum SW, et al. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. PMID 32047073 DOI: 10.1212/Wnl.0000000000009035 |
0.461 |
|
| 2019 |
Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, ... ... Yum SW, et al. Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. Journal of Neuromuscular Diseases. PMID 30958311 DOI: 10.3233/Jnd-190377 |
0.485 |
|
| 2019 |
Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, ... ... Yum SW, et al. Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A. Annals of Neurology. PMID 30706531 DOI: 10.1002/Ana.25426 |
0.514 |
|
| 2017 |
Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, et al. Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. PMID 28768847 DOI: 10.1212/Wnl.0000000000004296 |
0.47 |
|
| 2016 |
Motley WW, Palaima P, Yum SW, Gonzalez MA, Tao F, Wanschitz JV, Strickland AV, Löscher WN, De Vriendt E, Koppi S, Medne L, Janecke AR, Jordanova A, Zuchner S, Scherer SS. De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease. Brain : a Journal of Neurology. PMID 27009151 DOI: 10.1093/Brain/Aww055 |
0.548 |
|
| 2015 |
Jenssen BP, Lautz AJ, Orthmann-Murphy JL, Yum SW, Waanders A, Fox E. A 6-Year-Old With Leg Cramps. Pediatrics. 136: 732-9. PMID 26371189 DOI: 10.1542/Peds.2015-0332 |
0.597 |
|
| 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, ... ... Yum SW, 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 |
0.572 |
|
| 2011 |
Potter KA, Kern MJ, Fullbright G, Bielawski J, Scherer SS, Yum SW, Li JJ, Cheng H, Han X, Venkata JK, Khan PA, Rohrer B, Hama H. Central nervous system dysfunction in a mouse model of FA2H deficiency. Glia. 59: 1009-21. PMID 21491498 DOI: 10.1002/Glia.21172 |
0.435 |
|
| 2011 |
Zhang J, Scherer SS, Yum SW. Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. Molecular and Cellular Neurosciences. 47: 71-8. PMID 21040787 DOI: 10.1016/J.Mcn.2010.10.002 |
0.517 |
|
| 2010 |
Yum SW, Zhang J, Scherer SS. Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30. Neurobiology of Disease. 38: 226-36. PMID 20096356 DOI: 10.1016/J.Nbd.2010.01.010 |
0.518 |
|
| 2009 |
Yum SW, Zhang J, Mo K, Li J, Scherer SS. A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Annals of Neurology. 66: 759-70. PMID 20039262 DOI: 10.1002/Ana.21728 |
0.497 |
|
| 2007 |
Yum SW, Zhang J, Valiunas V, Kanaporis G, Brink PR, White TW, Scherer SS. Human connexin26 and connexin30 form functional heteromeric and heterotypic channels. American Journal of Physiology. Cell Physiology. 293: C1032-48. PMID 17615163 DOI: 10.1152/Ajpcell.00011.2007 |
0.456 |
|
| 2002 |
Yum SW, Kleopa KA, Shumas S, Scherer SS. Diverse trafficking abnormalities of connexin32 mutants causing CMTX. Neurobiology of Disease. 11: 43-52. PMID 12460545 DOI: 10.1006/Nbdi.2002.0545 |
0.643 |
|
| 2002 |
Kleopa KA, Yum SW, Scherer SS. Cellular mechanisms of connexin32 mutations associated with CNS manifestations. Journal of Neuroscience Research. 68: 522-34. PMID 12111842 DOI: 10.1002/Jnr.10255 |
0.656 |
|
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