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Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Armengol VD, Darras BT, Abulaban AA, Alshehri A, Barisic N, Ben-Omran T, Bernert G, Castiglioni C, Chien YH, Farrar MA, Kandawasvika G, Khadilkar S, Mah J, Marini-Bettolo C, Osredkar D, Pfeffer G, Piazzon FB, Pitarch Castellano I, Quijano-Roy S, Saito K, Shin JH, Vázquez-Costa JF, Walter MC, Wanigasinghe J, Xiong H, Griggs RC, Roy B. Armengol VD, et al. Among authors: pfeffer g. Neurol Clin Pract. 2024 Feb;14(1):e200224. doi: 10.1212/CPJ.0000000000200224. Epub 2023 Dec 15. Neurol Clin Pract. 2024. PMID: 38107546
Emerging therapies for mitochondrial disorders.
Nightingale H, Pfeffer G, Bargiela D, Horvath R, Chinnery PF. Nightingale H, et al. Among authors: pfeffer g. Brain. 2016 Jun;139(Pt 6):1633-48. doi: 10.1093/brain/aww081. Epub 2016 May 3. Brain. 2016. PMID: 27190030 Free PMC article. Review.
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.
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.
118 results