Year |
Citation |
Score |
2020 |
Du X, Carvalho-de-Souza JL, Wei C, Carrasquel-Ursulaez W, Lorenzo Y, Gonzalez N, Kubota T, Staisch J, Hain T, Petrossian N, Xu M, Latorre R, Bezanilla F, Gomez CM. Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia. Proceedings of the National Academy of Sciences of the United States of America. PMID 32132200 DOI: 10.1073/Pnas.1920008117 |
0.394 |
|
2020 |
Gan SR, Figueroa KP, Xu HL, Perlman S, Wilmot G, Gomez CM, Schmahmann J, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, et al. The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. Parkinsonism & Related Disorders. 72: 37-43. PMID 32105964 DOI: 10.1016/J.Parkreldis.2020.02.004 |
0.313 |
|
2019 |
Du X, Wei C, Hejazi Pastor DP, Rao ER, Li Y, Grasselli G, Godfrey J, Palmenberg AC, Andrade J, Hansel C, Gomez CM. α1ACT Is Essential for Survival and Early Cerebellar Programming in a Critical Neonatal Window. Neuron. PMID 30922876 DOI: 10.1016/J.Neuron.2019.02.036 |
0.354 |
|
2019 |
Lai RY, Tomishon D, Figueroa KP, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind M, Xia G, et al. Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor. Cerebellum (London, England). PMID 30830673 DOI: 10.1007/S12311-019-01016-6 |
0.332 |
|
2018 |
Du X, Gomez CM. Erratum to: Spinocerebellar Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics. Advances in Experimental Medicine and Biology. 1049: E1. PMID 29637516 DOI: 10.1007/978-3-319-71779-1_22 |
0.333 |
|
2018 |
Du X, Gomez CM. Spinocerebellum Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics. Advances in Experimental Medicine and Biology. 1049: 147-173. PMID 29427102 DOI: 10.1007/978-3-319-71779-1_7 |
0.406 |
|
2017 |
Kuo PH, Gan SR, Wang J, Lo RY, Figueroa KP, Tomishon D, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, et al. Dystonia and ataxia progression in spinocerebellar ataxias. Parkinsonism & Related Disorders. PMID 29089256 DOI: 10.1016/J.Parkreldis.2017.10.007 |
0.301 |
|
2017 |
Grajales-Reyes JG, García-González A, María-Ríos JC, Grajales-Reyes GE, Delgado-Vélez M, Báez-Pagán CA, Quesada O, Gómez CM, Lasalde-Dominicci JA. A Panel of Slow-Channel Congenital Myasthenic Syndrome Mice Reveals a Unique Locomotor Behavioral Signature. Journal of Neuromuscular Diseases. PMID 29036836 DOI: 10.3233/Jnd-170226 |
0.407 |
|
2016 |
Tsou WL, Qiblawi SH, Hosking RR, Gomez CM, Todi SV. Polyglutamine length-dependent toxicity from α1ACT in Drosophila models of spinocerebellar ataxia type 6. Biology Open. 5: 1770-1775. PMID 27979829 DOI: 10.1242/Bio.021667 |
0.339 |
|
2016 |
Carvalho-de-Souza JL, Kubota T, Du X, Latorre R, Gomez CM, Bezanilla F. A Missense Mutation in the Selectivity Filter of BK Affects the Channel's Potassium Conductance Biophysical Journal. 110: 449a. DOI: 10.1016/J.Bpj.2015.11.2412 |
0.376 |
|
2015 |
Falcon MI, Gomez CM, Chen EE, Shereen A, Solodkin A. Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6. Cerebral Cortex (New York, N.Y. : 1991). PMID 26209844 DOI: 10.1093/Cercor/Bhv154 |
0.317 |
|
2015 |
Tsou WL, Hosking RR, Burr AA, Sutton JR, Ouyang M, Du X, Gomez CM, Todi SV. DnaJ-1 and karyopherin α3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6. Human Molecular Genetics. 24: 4385-96. PMID 25954029 DOI: 10.1093/Hmg/Ddv174 |
0.384 |
|
2015 |
Gomez CM, Kawakami H. Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis. Neurology. 84: 1070-1. PMID 25681450 DOI: 10.1212/Wnl.0000000000001372 |
0.346 |
|
2015 |
Zhu H, Grajales-Reyes GE, Alicea-Vázquez V, Grajales-Reyes JG, Robinson K, Pytel P, Báez-Pagán CA, Lasalde-Dominicci JA, Gomez CM. Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. Experimental Neurology. 270: 88-94. PMID 25448156 DOI: 10.1016/J.Expneurol.2014.10.008 |
0.427 |
|
2015 |
Hekman KE, Gomez CM. The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability. Journal of Neurology, Neurosurgery, and Psychiatry. 86: 554-61. PMID 25136055 DOI: 10.1136/Jnnp-2014-308421 |
0.319 |
|
2014 |
Du X, Semler BL, Gomez CM. Revelations from a bicistronic calcium channel gene. Cell Cycle (Georgetown, Tex.). 13: 875-6. PMID 24552819 DOI: 10.4161/Cc.28199 |
0.354 |
|
2014 |
Zhu H, Pytel P, Gomez CM. Selective inhibition of caspases in skeletal muscle reverses the apoptotic synaptic degeneration in slow-channel myasthenic syndrome. Human Molecular Genetics. 23: 69-77. PMID 23943790 DOI: 10.1093/Hmg/Ddt397 |
0.356 |
|
2013 |
Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, et al. Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet Journal of Rare Diseases. 8: 177. PMID 24225362 DOI: 10.1186/1750-1172-8-177 |
0.302 |
|
2013 |
Du X, Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, Hansel C, Gomez CM. Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. Cell. 154: 118-33. PMID 23827678 DOI: 10.1016/J.Cell.2013.05.059 |
0.339 |
|
2013 |
Traka M, Millen KJ, Collins D, Elbaz B, Kidd GJ, Gomez CM, Popko B. WDR81 is necessary for purkinje and photoreceptor cell survival. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 6834-44. PMID 23595742 DOI: 10.1523/Jneurosci.2394-12.2013 |
0.607 |
|
2013 |
Koch H, Zanella S, Elsen GE, Smith L, Doi A, Garcia AJ, Wei AD, Xun R, Kirsch S, Gomez CM, Hevner RF, Ramirez JM. Stable respiratory activity requires both P/Q-type and N-type voltage-gated calcium channels. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 3633-45. PMID 23426690 DOI: 10.1523/Jneurosci.6390-11.2013 |
0.359 |
|
2012 |
Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Human Molecular Genetics. 21: 5472-83. PMID 23001565 DOI: 10.1093/Hmg/Dds392 |
0.349 |
|
2012 |
Solodkin A, Gomez CM. Spinocerebellar ataxia type 6. Handbook of Clinical Neurology. 103: 461-73. PMID 21827907 DOI: 10.1016/B978-0-444-51892-7.00029-2 |
0.392 |
|
2011 |
Zhu H, Bhattacharyya BJ, Lin H, Gomez CM. Skeletal muscle IP3R1 receptors amplify physiological and pathological synaptic calcium signals. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 15269-83. PMID 22031873 DOI: 10.1523/Jneurosci.3766-11.2011 |
0.315 |
|
2011 |
Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM. Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). Plos One. 6: e17811. PMID 21479265 DOI: 10.1371/Journal.Pone.0017811 |
0.392 |
|
2011 |
Solodkin A, Peri E, Chen EE, Ben-Jacob E, Gomez CM. Loss of intrinsic organization of cerebellar networks in spinocerebellar ataxia type 1: correlates with disease severity and duration. Cerebellum (London, England). 10: 218-32. PMID 20886327 DOI: 10.1007/S12311-010-0214-5 |
0.33 |
|
2011 |
Oz G, Iltis I, Hutter D, Thomas W, Bushara KO, Gomez CM. Distinct neurochemical profiles of spinocerebellar ataxias 1, 2, 6, and cerebellar multiple system atrophy. Cerebellum (London, England). 10: 208-17. PMID 20838948 DOI: 10.1007/S12311-010-0213-6 |
0.321 |
|
2010 |
Pula JH, Gomez CM, Kattah JC. Ophthalmologic features of the common spinocerebellar ataxias. Current Opinion in Ophthalmology. 21: 447-53. PMID 20811282 DOI: 10.1097/Icu.0B013E32833Eaf71 |
0.305 |
|
2010 |
Iltis I, Hutter D, Bushara KO, Clark HB, Gross M, Eberly LE, Gomez CM, Oz G. (1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2. Brain Research. 1358: 200-10. PMID 20713024 DOI: 10.1016/J.Brainres.2010.08.030 |
0.33 |
|
2008 |
Watase K, Barrett CF, Miyazaki T, Ishiguro T, Ishikawa K, Hu Y, Unno T, Sun Y, Kasai S, Watanabe M, Gomez CM, Mizusawa H, Tsien RW, Zoghbi HY. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proceedings of the National Academy of Sciences of the United States of America. 105: 11987-92. PMID 18687887 DOI: 10.1073/Pnas.0804350105 |
0.399 |
|
2007 |
Groshong JS, Spencer MJ, Bhattacharyya BJ, Kudryashova E, Vohra BP, Zayas R, Wollmann RL, Miller RJ, Gomez CM. Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome. The Journal of Clinical Investigation. 117: 2903-12. PMID 17853947 DOI: 10.1172/Jci30383 |
0.713 |
|
2007 |
Kordasiewicz HB, Gomez CM. Molecular pathogenesis of spinocerebellar ataxia type 6. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. 4: 285-94. PMID 17395139 DOI: 10.1016/J.Nurt.2007.01.003 |
0.699 |
|
2007 |
Raike RS, Kordasiewicz HB, Thompson RM, Gomez CM. Dominant-negative suppression of Cav2.1 currents by alpha(1)2.1 truncations requires the conserved interaction domain for beta subunits. Molecular and Cellular Neurosciences. 34: 168-77. PMID 17161621 DOI: 10.1016/J.Mcn.2006.10.011 |
0.746 |
|
2007 |
Zayas R, Groshong JS, Gomez CM. Inositol-1,4,5-triphosphate receptors mediate activity-induced synaptic Ca2+ signals in muscle fibers and Ca2+ overload in slow-channel syndrome. Cell Calcium. 41: 343-52. PMID 16973214 DOI: 10.1016/J.Ceca.2006.07.007 |
0.678 |
|
2006 |
Zayas R, Lasalde-Dominicci J, Gomez CM. Macroscopic properties of spontaneous mutations in slow-channel syndrome: correlation by domain and disease severity. Synapse (New York, N.Y.). 60: 441-9. PMID 16881075 DOI: 10.1002/Syn.20317 |
0.732 |
|
2006 |
Vohra BP, Groshong JS, Zayas R, Wollmann RL, Gomez CM. Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model. Neurobiology of Disease. 23: 462-70. PMID 16815027 DOI: 10.1016/J.Nbd.2006.04.018 |
0.681 |
|
2006 |
Navedo MF, Lasalde-Dominicci JA, Báez-Pagán CA, DÃaz-Pérez L, Rojas LV, Maselli RA, Staub J, Schott K, Zayas R, Gomez CM. Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation. Molecular and Cellular Neurosciences. 32: 82-90. PMID 16624571 DOI: 10.1016/J.Mcn.2006.02.004 |
0.721 |
|
2006 |
Kordasiewicz HB, Thompson RM, Clark HB, Gomez CM. C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. Human Molecular Genetics. 15: 1587-99. PMID 16595610 DOI: 10.1093/Hmg/Ddl080 |
0.667 |
|
2005 |
Maschke M, Oehlert G, Xie TD, Perlman S, Subramony SH, Kumar N, Ptacek LJ, Gomez CM. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 1405-12. PMID 16037936 DOI: 10.1002/Mds.20533 |
0.308 |
|
2005 |
Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Annals of Neurology. 57: 349-54. PMID 15732118 DOI: 10.1002/Ana.20371 |
0.332 |
|
2004 |
Vohra BP, Groshong JS, Maselli RA, Verity MA, Wollmann RL, Gomez CM. Focal caspase activation underlies the endplate myopathy in slow-channel syndrome. Annals of Neurology. 55: 347-52. PMID 14991812 DOI: 10.1002/Ana.10823 |
0.364 |
|
2004 |
Gomez CM. ARSACS goes global. Neurology. 62: 10-1. PMID 14718687 DOI: 10.1212/Wnl.62.1.10 |
0.307 |
|
2003 |
Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, Anderson JH, Gomez CM. Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. Annals of Neurology. 54: 725-31. PMID 14681882 DOI: 10.1002/Ana.10756 |
0.734 |
|
2003 |
Gomez CM, Subramony SH. Dominantly inherited ataxias. Seminars in Pediatric Neurology. 10: 210-22. PMID 14653409 DOI: 10.1016/S1071-9091(03)00030-5 |
0.327 |
|
2003 |
Maschke M, Gomez CM, Tuite PJ, Konczak J. Dysfunction of the basal ganglia, but not the cerebellum, impairs kinaesthesia. Brain : a Journal of Neurology. 126: 2312-22. PMID 12821507 DOI: 10.1093/Brain/Awg230 |
0.309 |
|
2002 |
Gomez CM, Maselli RA, Groshong J, Zayas R, Wollmann RL, Cens T, Charnet P. Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 22: 6447-57. PMID 12151524 DOI: 10.1523/Jneurosci.22-15-06447.2002 |
0.722 |
|
2002 |
Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J. Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Annals of Neurology. 51: 102-12. PMID 11782989 DOI: 10.1002/Ana.10077 |
0.435 |
|
2002 |
Anderson JH, Yavuz MC, Kazar BM, Christova P, Gomez CM. The vestibulo-ocular reflex and velocity storage in spinocerebellar ataxia 8. Archives Italiennes De Biologie. 140: 323-329. DOI: 10.4449/Aib.V140I4.491 |
0.317 |
|
2001 |
Gomez CM. Polyglutamine aggregates in SCA6 Purkinje cells: A tail of two toxicities Neurology. 56: 1618-1619. PMID 11425924 DOI: 10.1212/Wnl.56.12.1618 |
0.407 |
|
2000 |
Restituito S, Thompson RM, Eliet J, Raike RS, Riedl M, Charnet P, Gomez CM. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 20: 6394-403. PMID 10964945 DOI: 10.1523/Jneurosci.20-17-06394.2000 |
0.74 |
|
1998 |
Gomez CM, Maselli R, Williams JM, Bhattacharyya BB, Wollmann RL, Day JW. Genetic manipulation of AChR responses suggests multiple causes of weakness in slow-channel syndrome. Annals of the New York Academy of Sciences. 841: 167-80. PMID 9668235 DOI: 10.1111/J.1749-6632.1998.Tb10923.X |
0.339 |
|
1998 |
Gouw LG, Castañeda MA, McKenna CK, Digre KB, Pulst SM, Perlman S, Lee MS, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, Jeri FR, Ptácek LJ. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Human Molecular Genetics. 7: 525-32. PMID 9467013 DOI: 10.1093/Hmg/7.3.525 |
0.333 |
|
1997 |
Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Annals of Neurology. 42: 933-50. PMID 9403487 DOI: 10.1002/Ana.410420616 |
0.389 |
|
1997 |
Bhattacharyya BJ, Day JW, Gundeck JE, Leonard S, Wollmann RL, Gomez CM. Desensitization of mutant acetylcholine receptors in transgenic mice reduces the amplitude of neuromuscular synaptic currents. Synapse (New York, N.Y.). 27: 367-77. PMID 9372559 DOI: 10.1002/(Sici)1098-2396(199712)27:4<367::Aid-Syn10>3.0.Co;2-P |
0.39 |
|
1997 |
Gomez CM, Maselli R, Gundeck JE, Chao M, Day JW, Tamamizu S, Lasalde JA, McNamee M, Wollmann RL. Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 17: 4170-9. PMID 9151734 DOI: 10.1523/Jneurosci.17-11-04170.1997 |
0.431 |
|
1996 |
Gomez CM, Maselli R, Gammack J, Lasalde J, Tamamizu S, Cornblath DR, Lehar M, McNamee M, Kuncl RW. A β-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome Annals of Neurology. 39: 712-723. PMID 8651643 DOI: 10.1002/Ana.410390607 |
0.417 |
|
1996 |
Gomez CM, Bhattacharyya BB, Charnet P, Day JW, Labarca C, Wollmann RL, Lambert EH. A transgenic mouse model of the slow-channel syndrome. Muscle & Nerve. 19: 79-87. PMID 8538674 DOI: 10.1002/(Sici)1097-4598(199601)19:1<79::Aid-Mus11>3.0.Co;2-Z |
0.413 |
|
1995 |
Gomez CM, Gammack JT. A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome Neurology. 45: 982-985. PMID 7538206 DOI: 10.1212/Wnl.45.5.982 |
0.382 |
|
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