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Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB. Hammer MB, et al. Among authors: mistry pk. Am J Hum Genet. 2013 Feb 7;92(2):245-51. doi: 10.1016/j.ajhg.2012.12.012. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332917 Free PMC article.
The commercial genetic testing landscape for Parkinson's disease.
Cook L, Schulze J, Verbrugge J, Beck JC, Marder KS, Saunders-Pullman R, Klein C, Naito A, Alcalay RN; ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease; Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors; Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors. Cook L, et al. Parkinsonism Relat Disord. 2021 Nov;92:107-111. doi: 10.1016/j.parkreldis.2021.10.001. Epub 2021 Oct 19. Parkinsonism Relat Disord. 2021. PMID: 34696975 Free PMC article.
Gaucher disease: Progress and ongoing challenges.
Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Mistry PK, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):8-21. doi: 10.1016/j.ymgme.2016.11.006. Epub 2016 Nov 17. Mol Genet Metab. 2017. PMID: 27916601 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: mistry pk. Neurol Genet. 2016 Mar 4;2(2):e57. doi: 10.1212/NXG.0000000000000057. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123476 Free PMC article.
Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.
Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ. Desnick RJ, et al. Among authors: mistry pk. Mol Genet Metab. 2017 Jan-Feb;120(1-2):1-7. doi: 10.1016/j.ymgme.2016.10.010. Epub 2016 Nov 12. Mol Genet Metab. 2017. PMID: 27866832
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
El-Beshlawy A, Tylki-Szymanska A, Vellodi A, Belmatoug N, Grabowski GA, Kolodny EH, Batista JL, Cox GF, Mistry PK. El-Beshlawy A, et al. Among authors: mistry pk. Mol Genet Metab. 2017 Jan-Feb;120(1-2):47-56. doi: 10.1016/j.ymgme.2016.12.001. Epub 2016 Dec 6. Mol Genet Metab. 2017. PMID: 28040394 Free article. Clinical Trial.
Individualization of long-term enzyme replacement therapy for Gaucher disease.
Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ; International Collaborative Gaucher Group U.S. Regional Coordinators. Andersson HC, et al. Genet Med. 2005 Feb;7(2):105-10. doi: 10.1097/01.gim.0000153660.88672.3c. Genet Med. 2005. PMID: 15714077 Free article. Review.
175 results