| Year |
Citation |
Score |
| 2017 |
Ward ME, Chen R, Huang HY, Ludwig C, Telpoukhovskaia M, Taubes A, Boudin H, Minami SS, Reichert M, Albrecht P, Gelfand JM, Cruz-Herranz A, Cordano C, Alavi MV, Leslie S, ... ... Staropoli JF, et al. Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis. Science Translational Medicine. 9. PMID 28404863 DOI: 10.1126/Scitranslmed.Aah5642 |
0.322 |
|
| 2017 |
Jangi M, Fleet C, Cullen P, Gupta SV, Mekhoubad S, Chiao E, Allaire N, Bennett CF, Rigo F, Krainer AR, Hurt JA, Carulli JP, Staropoli JF. SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage. Proceedings of the National Academy of Sciences of the United States of America. PMID 28270613 DOI: 10.1073/Pnas.1613181114 |
0.395 |
|
| 2016 |
Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, et al. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology. PMID 27412140 DOI: 10.1212/Wnl.0000000000002943 |
0.41 |
|
| 2015 |
Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N, Staropoli JF, Nijssen PC, Lam TT, Roth AF, Davis NG, Dawson G, Velinov M, Chandra SS. Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. Acta Neuropathologica. PMID 26659577 DOI: 10.1007/S00401-015-1512-2 |
0.491 |
|
| 2014 |
Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, et al. Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. Human Molecular Genetics. 23: 2005-22. PMID 24271013 DOI: 10.1093/Hmg/Ddt596 |
0.426 |
|
| 2013 |
Cotman SL, Karaa A, Staropoli JF, Sims KB. Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Current Neurology and Neuroscience Reports. 13: 366. PMID 23775425 DOI: 10.1007/s11910-013-0366-z |
0.319 |
|
| 2013 |
Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Human Molecular Genetics. 22: 1417-23. PMID 23297359 DOI: 10.1093/Hmg/Dds558 |
0.309 |
|
| 2012 |
Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. American Journal of Human Genetics. 91: 202-8. PMID 22748208 DOI: 10.1016/J.Ajhg.2012.05.023 |
0.388 |
|
| 2012 |
Staropoli JF, Xin W, Barone R, Cotman SL, Sims KB. An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. Bmc Medical Genetics. 13: 50. PMID 22727047 DOI: 10.1186/1471-2350-13-50 |
0.491 |
|
| 2012 |
Cotman SL, Staropoli JF. The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. Clinical Lipidology. 7: 79-91. PMID 22545070 DOI: 10.2217/clp.11.70 |
0.375 |
|
| 2012 |
Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S. Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. Plos One. 7: e29729. PMID 22235333 DOI: 10.1371/Journal.Pone.0029729 |
0.345 |
|
| 2011 |
Nosková L, Stránecký V, Hartmannová H, P?istoupilová A, Barešová V, Ivánek R, H?lková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, et al. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. American Journal of Human Genetics. 89: 241-52. PMID 21820099 DOI: 10.1016/j.ajhg.2011.09.003 |
0.555 |
|
| 2011 |
Cao Y, Staropoli JF, Biswas S, Espinola JA, MacDonald ME, Lee JM, Cotman SL. Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. Plos One. 6: e17118. PMID 21359198 DOI: 10.1371/Journal.Pone.0017118 |
0.419 |
|
| 2008 |
Staropoli JF. Tumorigenesis and neurodegeneration: two sides of the same coin? Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 30: 719-27. PMID 18623069 DOI: 10.1002/bies.20784 |
0.416 |
|
| 2005 |
Staropoli JF, Abeliovich A. The ubiquitin-proteasome pathway is necessary for maintenance of the postmitotic status of neurons. Journal of Molecular Neuroscience : Mn. 27: 175-83. PMID 16186628 DOI: 10.1385/Jmn:27:2:175 |
0.462 |
|
| 2003 |
Staropoli JF, McDermott C, Martinat C, Schulman B, Demireva E, Abeliovich A. Parkin is a component of an SCF-like ubiquitin ligase complex and protects postmitotic neurons from kainate excitotoxicity. Neuron. 37: 735-49. PMID 12628165 DOI: 10.1016/S0896-6273(03)00084-9 |
0.46 |
|
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