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The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.
Goker-Alpan O, Masdeu JC, Kohn PD, Ianni A, Lopez G, Groden C, Chapman MC, Cropp B, Eisenberg DP, Maniwang ED, Davis J, Wiggs E, Sidransky E, Berman KF. Goker-Alpan O, et al. Among authors: groden c. Brain. 2012 Aug;135(Pt 8):2440-8. doi: 10.1093/brain/aws174. Brain. 2012. PMID: 22843412 Free PMC article.
The clinical management of Type 2 Gaucher disease.
Weiss K, Gonzalez A, Lopez G, Pedoeim L, Groden C, Sidransky E. Weiss K, et al. Among authors: groden c. Mol Genet Metab. 2015 Feb;114(2):110-122. doi: 10.1016/j.ymgme.2014.11.008. Epub 2014 Nov 14. Mol Genet Metab. 2015. PMID: 25435509 Free PMC article. Review.
Clinical course and prognosis in patients with Gaucher disease and parkinsonism.
Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N, Mistry PK, Pastores GM, Zimran A, Goker-Alpan O, Sidransky E. Lopez G, et al. Among authors: groden c. Neurol Genet. 2016 Mar 4;2(2):e57. doi: 10.1212/NXG.0000000000000057. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123476 Free PMC article.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Neurologic involvement in patients with atypical Chediak-Higashi disease.
Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Among authors: groden ca. Neurology. 2016 Apr 5;86(14):1320-1328. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Neurology. 2016. Retracted and republished in: Neurology. 2017 Feb 14;88(7):e57-e65. doi: 10.1212/WNL.0000000000003622 PMID: 26944273 Free PMC article. Retracted and republished.
Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.
Soldatos A, Nutman TB, Johnson T, Dowell SF, Sejvar JJ, Wilson MR, DeRisi JL, Inati SK, Groden C, Evans C, O'Connell EM, Toliva BO, Aceng JR, Aryek-Kwe J, Toro C, Stratakis CA, Buckler AG, Cantilena C, Palmore TN, Thurm A, Baker EH, Chang R, Fauni H, Adams D, Macnamara EF, Lau CC, Malicdan MCV, Pusey-Swerdzewski B, Downing R, Bunga S, Thomas JD, Gahl WA, Nath A. Soldatos A, et al. Among authors: groden c. Brain. 2023 Mar 1;146(3):968-976. doi: 10.1093/brain/awac357. Brain. 2023. PMID: 36181424 Free PMC article.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, Markello TC, Mungall CJ, Nehrebecky M, Robinson PN, Sincan M, Soldatos AG, Tifft CJ, Toro C, Trang H, Valkanas E, Vasilevsky N, Wahl C, Wolfe LA, Boerkoel CF, Brudno M, Haendel MA, Gahl WA, Smedley D. Bone WP, et al. Among authors: groden c. Genet Med. 2016 Jun;18(6):608-17. doi: 10.1038/gim.2015.137. Epub 2015 Nov 12. Genet Med. 2016. PMID: 26562225 Free PMC article.
258 results