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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.
A protocol for single nucleus RNA-seq from frozen skeletal muscle.
Soule TG, Pontifex CS, Rosin N, Joel MM, Lee S, Nguyen MD, Chhibber S, Pfeffer G. Soule TG, et al. Among authors: pfeffer g. Life Sci Alliance. 2023 Mar 13;6(5):e202201806. doi: 10.26508/lsa.202201806. Print 2023 May. Life Sci Alliance. 2023. PMID: 36914268 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.
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.
Titin mutation segregates with hereditary myopathy with early respiratory failure.
Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF. Pfeffer G, et al. Brain. 2012 Jun;135(Pt 6):1695-713. doi: 10.1093/brain/aws102. Epub 2012 May 9. Brain. 2012. PMID: 22577215 Free PMC article.
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.
125 results