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292 results
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Myoclonus and angiokeratomas in adult galactosialidosis.
Abaroa L, Garretto NS, Arakaki T, Kauffman M, Moron DG, Figueredo AM, Szlago M, Metman LV. Abaroa L, et al. Among authors: kauffman m. Mov Disord. 2011 Mar;26(4):756-7. doi: 10.1002/mds.23500. Epub 2011 Feb 10. Mov Disord. 2011. PMID: 21312277 No abstract available.
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time.
Perez Maturo J, Zavala L, Vega P, González-Morón D, Medina N, Salinas V, Rosales J, Córdoba M, Arakaki T, Garretto N, Rodríguez-Quiroga S, Kauffman MA. Perez Maturo J, et al. Among authors: kauffman ma. J Hum Genet. 2020 Oct;65(10):895-902. doi: 10.1038/s10038-020-0785-z. Epub 2020 Jun 3. J Hum Genet. 2020. PMID: 32488064
Biomarker-driven phenotyping in Parkinson's disease: A translational missing link in disease-modifying clinical trials.
Espay AJ, Schwarzschild MA, Tanner CM, Fernandez HH, Simon DK, Leverenz JB, Merola A, Chen-Plotkin A, Brundin P, Kauffman MA, Erro R, Kieburtz K, Woo D, Macklin EA, Standaert DG, Lang AE. Espay AJ, et al. Among authors: kauffman ma. Mov Disord. 2017 Mar;32(3):319-324. doi: 10.1002/mds.26913. Epub 2017 Feb 24. Mov Disord. 2017. PMID: 28233927 Free PMC article. Review.
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
González-Morón D, Vishnopolska S, Consalvo D, Medina N, Marti M, Córdoba M, Vazquez-Dusefante C, Claverie S, Rodríguez-Quiroga SA, Vega P, Silva W, Kochen S, Kauffman MA. González-Morón D, et al. Among authors: kauffman ma. PLoS One. 2017 Sep 27;12(9):e0185103. doi: 10.1371/journal.pone.0185103. eCollection 2017. PLoS One. 2017. PMID: 28953922 Free PMC article.
Revisiting protein aggregation as pathogenic in sporadic Parkinson and Alzheimer diseases.
Espay AJ, Vizcarra JA, Marsili L, Lang AE, Simon DK, Merola A, Josephs KA, Fasano A, Morgante F, Savica R, Greenamyre JT, Cambi F, Yamasaki TR, Tanner CM, Gan-Or Z, Litvan I, Mata IF, Zabetian CP, Brundin P, Fernandez HH, Standaert DG, Kauffman MA, Schwarzschild MA, Sardi SP, Sherer T, Perry G, Leverenz JB. Espay AJ, et al. Among authors: kauffman ma. Neurology. 2019 Feb 12;92(7):329-337. doi: 10.1212/WNL.0000000000006926. Neurology. 2019. PMID: 30745444 Free PMC article. Review.
Holmes Tremor-Like Phenotype in DYT1 Dystonia.
Rodriguez-Quiroga S, Gonzalez-Moron D, Espay AJ, Kauffman MA. Rodriguez-Quiroga S, et al. Mov Disord Clin Pract. 2018 Feb 7;5(2):206-208. doi: 10.1002/mdc3.12585. eCollection 2018 Mar-Apr. Mov Disord Clin Pract. 2018. PMID: 30746402 Free PMC article. No abstract available.
Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis.
Artusi CA, Dwivedi AK, Romagnolo A, Pal G, Kauffman M, Mata I, Patel D, Vizcarra JA, Duker A, Marsili L, Cheeran B, Woo D, Contarino MF, Verhagen L, Lopiano L, Espay AJ, Fasano A, Merola A. Artusi CA, et al. Among authors: kauffman m. JAMA Netw Open. 2019 Feb 1;2(2):e187800. doi: 10.1001/jamanetworkopen.2018.7800. JAMA Netw Open. 2019. PMID: 30707228 Free PMC article.
292 results