CONTACT INFORMATIONBIOGRAPHYCREDENTIALSPUBLICATIONSSamuel J. Mackenzie, M.D., Ph.D.(Pronouns: he/his/him)Contact InformationPhone NumbersAppointment: (585) 276-3000A member of the University of Rochester Medical Faculty GroupgroupAn Accountable Health PartnerassignmentAccepting New PatientsLocations601 Elmwood Ave, Floor 1Strong Ambulatory Care FacilityRochester, NY 14642-0001Neurology: (585) 275-2559601 Elmwood Ave, Floor 1Strong Ambulatory Care FacilityRochester, NY 14642-0001Neurology: (585) 275-4568601 Elmwood Ave, Floor 1Strong Ambulatory Care FacilityRochester, NY 14642-0001Neurology: (585) 275-1200Clinton Crossings Neurology919 Westfall Rd, Ste 220 Bldg CRochester, NY 14618-2628Neurology: (585) 341-7500Faculty AppointmentsSenior Instructor - Department of Neurology , NMD (SMD) Patient Care SettingNeurologyBiographyProfessional BackgroundI completed my undergraduate studies at Cornell University before earning a Master's Degree in exercise science at the University of Delaware and my MD-PhD at SUNY Upstate Medical University. I completed residency in child neurology at the University of Michigan and fellowship in neuromuscular medicine at The Ohio State University and Nationwide Children's Hospital.ResearchI am a physician-scientist with clinical and research interests in pediatric neuromuscular disorders. My overall research goals involve bringing novel gene-based therapies to patients with rare conditions through a variety of basic and translational approaches. I have particular interests in myotonic dystrophy and a rare condition known as TANGO2 deficiency syndrome but am also involved in projects related to Duchenne muscular dystrophy, spinal muscular atrophy, and various other neuromuscular diseases.CredentialsEducation2015MD, PhD | SUNY Upstate Medical CenterPost-doctoral Training & Residency07/01/2020 - 06/30/2021Fellowship in Neuromuscular Disease at Ohio State University College of Medicine07/01/2017 - 06/30/2020Residency in Pediatric Neurology at University of Michigan Medical School-GME06/30/2015 - 06/30/2017Internship in Pediatrics at University of Michigan Medical School-GMEVIEW ALL expand_morePublicationsJournal Articles6/2021Powell AR, Ames EG, Knierbein EN, Hannibal MC, Mackenzie SJ. "Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA)." Pediatric neurology.. 2021 Jun 0; 119:34-39. Epub 2021 Mar 08. 4/2020Mackenzie SJ, Lin CC, Todd PK, Burke JF, Callaghan BC. "Genetic testing utilization for patients with neurologic disease and the limitations of claims data." Neurology. Genetics.. 2020 Apr 0; 6(2):e405. Epub 2020 Feb 26. 1/2018Mackenzie SJ, Yi JL, Singla A, Russell TM, Osterhout DJ, Calancie B. "Cauda equina repair in the rat: Part 3. Axonal regeneration across Schwann cell-Seeded collagen foam." Muscle & nerve.. 2018 Jan 0; 57(1):E78-E84. Epub 2017 Aug 13. Books & Chapters2008 Chapter Title: Factors affecting motor development Book Title: Introduction to Human Motor Development Author List: Getchell, N., Wei, H., and Mackenzie, S. J. Published By: People's Education Press 2008VIEW ALL PUBLICATIONSClose WindowSchedule an appointment with Samuel J. Mackenzie, M.D., Ph.D.Please answer the following questions to help us find the right appointment for you.Important: If you believe that you have a medical or psychiatric emergency, please call 911 or go to the nearest hospital. This website is not intended for emergency care.Have you seen this provider in the last 2 years?YesNoExisting Patient Schedule or request a follow up appointment online through MyChart. If you do not have a MyChart account, please close this window and call the appointment phone number. Samuel J. Mackenzie, M.D., Ph.D. is currently scheduling for the following appointment type(s): Our policy does not permit patients to establish care with multiple providers within the same practice or specialty without prior approval. If you choose a new provider in the same office, we will cancel the appointment. Please contact the office directly with questions on this policy.