| Year |
Citation |
Score |
| 2021 |
Hain HS, Pandey R, Bakay M, Strenkowski BP, Harrington D, Romer M, Motley WW, Li J, Lancaster E, Roth L, Grinspan JB, Scherer SS, Hakonarson H. Inducible knockout of Clec16a in mice results in sensory neurodegeneration. Scientific Reports. 11: 9319. PMID 33927318 DOI: 10.1038/s41598-021-88895-0 |
0.313 |
|
| 2020 |
Motley WW, Züchner S, Scherer SS. Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy. Neurology. Genetics. 6: e496. PMID 32802955 DOI: 10.1212/Nxg.0000000000000496 |
0.41 |
|
| 2020 |
Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, Marion MH, Hicklin LA, Modarres H, Baple EL, Farah MH, et al. Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. The Journal of Clinical Investigation. PMID 32065591 DOI: 10.1172/Jci128152 |
0.453 |
|
| 2018 |
Dankwa L, Richardson J, Motley WW, Scavina M, Courel S, Bardakjian T, Züchner S, Scherer SS. A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscular Disorders : Nmd. PMID 30642740 DOI: 10.1016/J.Nmd.2018.12.008 |
0.463 |
|
| 2018 |
Meister-Broekema M, Freilich R, Jagadeesan C, Rauch JN, Bengoechea R, Motley WW, Kuiper EFE, Minoia M, Furtado GV, van Waarde MAWH, Bird SJ, Rebelo A, Zuchner S, Pytel P, Scherer SS, et al. Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks. Nature Communications. 9: 5342. PMID 30559338 DOI: 10.1038/S41467-018-07718-5 |
0.445 |
|
| 2018 |
Dankwa L, Richardson J, Motley WW, Züchner S, Scherer SS. A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. Journal of the Peripheral Nervous System : Jpns. PMID 29341354 DOI: 10.1111/Jns.12248 |
0.469 |
|
| 2017 |
Bengoechea R, Motley W, Bird S, Zuchner S, Scherer S, Weihl C. A novel BAG3 mutation associated with myofibrillar myopathy emphasizes HSP70 dependent activity Neuromuscular Disorders. 27: S120. DOI: 10.1016/J.Nmd.2017.06.105 |
0.465 |
|
| 2016 |
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DL, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, et al. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. American Journal of Human Genetics. 99: 607-623. PMID 27588448 DOI: 10.1016/J.Ajhg.2016.07.008 |
0.561 |
|
| 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 |
Grice SJ, Sleigh JN, Motley WW, Liu JL, Burgess RW, Talbot K, Cader MZ. Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology. Human Molecular Genetics. 24: 4397-406. PMID 25972375 DOI: 10.1093/Hmg/Ddv176 |
0.577 |
|
| 2015 |
Motley WW, Griffin LB, Mademan I, Baets J, De Vriendt E, De Jonghe P, Antonellis A, Jordanova A, Scherer SS. A novel AARS mutation in a family with dominant myeloneuropathy. Neurology. 84: 2040-7. PMID 25904691 DOI: 10.1212/Wnl.0000000000001583 |
0.418 |
|
| 2014 |
Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A. CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila. Neurobiology of Disease. 68: 180-9. PMID 24807208 DOI: 10.1016/J.Nbd.2014.04.020 |
0.594 |
|
| 2011 |
Davisson MT, Bronson RT, Tadenev AL, Motley WW, Krishnaswamy A, Seburn KL, Burgess RW. A spontaneous mutation in contactin 1 in the mouse. Plos One. 6: e29538. PMID 22242131 DOI: 10.1371/Journal.Pone.0029538 |
0.537 |
|
| 2011 |
Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW. Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. Plos Genetics. 7: e1002399. PMID 22144914 DOI: 10.1371/Journal.Pgen.1002399 |
0.641 |
|
| 2011 |
Kwon DY, Motley WW, Fischbeck KH, Burnett BG. Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. Human Molecular Genetics. 20: 3667-77. PMID 21693563 DOI: 10.1093/Hmg/Ddr288 |
0.34 |
|
| 2010 |
Motley WW, Talbot K, Fischbeck KH. GARS axonopathy: not every neuron's cup of tRNA. Trends in Neurosciences. 33: 59-66. PMID 20152552 DOI: 10.1016/J.Tins.2009.11.001 |
0.612 |
|
| 2009 |
Traoré M, Landouré G, Motley W, Sangaré M, Meilleur K, Coulibaly S, Traoré S, Niaré B, Mochel F, La Pean A, Vortmeyer A, Mani H, Fischbeck KH. Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. Neurogenetics. 10: 319-23. PMID 19322595 DOI: 10.1007/S10048-009-0190-4 |
0.465 |
|
| 2007 |
Ward JO, Reinholdt LG, Motley WW, Niswander LM, Deacon DC, Griffin LB, Langlais KK, Backus VL, Schimenti KJ, O'Brien MJ, Eppig JJ, Schimenti JC. Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over. Plos Genetics. 3: e139. PMID 17784788 DOI: 10.1371/Journal.Pgen.0030139 |
0.433 |
|
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