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118 results

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Page 1
Primary lateral sclerosis.
Marzoughi S, Pfeffer G, Cashman N. Marzoughi S, et al. Among authors: pfeffer g. Handb Clin Neurol. 2023;196:89-99. doi: 10.1016/B978-0-323-98817-9.00021-1. Handb Clin Neurol. 2023. PMID: 37620095 Review.
Titinopathy in a Canadian family sharing the British founder haplotype.
Pfeffer G, Joseph JT, Innes AM, Frizzell JB, Wilson IJ, Brownell AK, Chinnery PF. Pfeffer G, et al. Can J Neurol Sci. 2014 Jan;41(1):90-4. doi: 10.1017/s0317167100016346. Can J Neurol Sci. 2014. PMID: 24384345 Free PMC article. No abstract available.
Methodology for clinical genotyping of CYP2D6 and CYP2C19.
Carvalho Henriques B, Buchner A, Hu X, Wang Y, Yavorskyy V, Wallace K, Dong R, Martens K, Carr MS, Behroozi Asl B, Hague J, Sivapalan S, Maier W, Dernovsek MZ, Henigsberg N, Hauser J, Souery D, Cattaneo A, Mors O, Rietschel M, Pfeffer G, Hume S, Aitchison KJ. Carvalho Henriques B, et al. Among authors: pfeffer g. Transl Psychiatry. 2021 Nov 22;11(1):596. doi: 10.1038/s41398-021-01717-9. Transl Psychiatry. 2021. PMID: 34811360 Free PMC article.
New treatments for mitochondrial disease-no time to drop our standards.
Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF. Pfeffer G, et al. Nat Rev Neurol. 2013 Aug;9(8):474-81. doi: 10.1038/nrneurol.2013.129. Epub 2013 Jul 2. Nat Rev Neurol. 2013. PMID: 23817350 Free PMC article. Review.
Treatment for mitochondrial disorders.
Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Pfeffer G, et al. Cochrane Database Syst Rev. 2012 Apr 18;2012(4):CD004426. doi: 10.1002/14651858.CD004426.pub3. Cochrane Database Syst Rev. 2012. PMID: 22513923 Free PMC article. Review.
Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19.
Henriques BC, Buchner A, Hu X, Wang Y, Yavorskyy V, Wallace K, Dong R, Martens K, Carr MS, Asl BB, Hague J, Sivapalan S, Maier W, Dernovsek MZ, Henigsberg N, Hauser J, Souery D, Cattaneo A, Mors O, Rietschel M, Pfeffer G, Hume S, Aitchison KJ. Henriques BC, et al. Among authors: pfeffer g. Transl Psychiatry. 2022 Mar 8;12(1):94. doi: 10.1038/s41398-022-01845-w. Transl Psychiatry. 2022. PMID: 35260547 Free PMC article. No abstract available.
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.
Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF. Pfeffer G, et al. J Neurol Neurosurg Psychiatry. 2012 Sep;83(9):883-6. doi: 10.1136/jnnp-2012-302568. Epub 2012 May 10. J Neurol Neurosurg Psychiatry. 2012. PMID: 22577227 Free PMC article.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A. Pfeffer G, et al. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13. J Neurol Neurosurg Psychiatry. 2014. PMID: 23486992 Free PMC article.
Diagnosis and treatment of mitochondrial myopathies.
Pfeffer G, Chinnery PF. Pfeffer G, et al. Ann Med. 2013 Feb;45(1):4-16. doi: 10.3109/07853890.2011.605389. Epub 2011 Aug 25. Ann Med. 2013. PMID: 21867371 Free PMC article. Review.
118 results