Skip to content
Find a Provider
Samuel J. Mackenzie, M.D., Ph.D.

Samuel J. Mackenzie, M.D., Ph.D.

he/his/him

Neurology

UR Medicine Faculty The University of Rochester Medical Faculty Group (URMFG) consists of over 900 specialist and primary care providers spanning 19 departments. URMFG is certified by the National Committee for Quality Assurance.
Accountable Health Partner Accountable Health Partners (AHP) is a network of over 2,000 community and UR medical faculty and a dozen leading hospitals throughout the region. AHP offers a full range of care.
Accepting New Patients

Contact

Appointment (585) 275-2559

Locations

Neurology

601 Elmwood Avenue, 1st Floor
Rochester, NY 14642

Get Directions
Neuromuscular Electromyography and Nerve Conduction (EMG) Lab

919 Westfall Road, Suite 210
Rochester, NY 14618

(585) 275-4568

About Me

Professional Background

Dr. Mackenzie completed his undergraduate studies at Cornell University before earning a Master's degree in exercise science at the University of Delaware and his MD and PhD degrees at SUNY Upstate Medical University. He completed residency in child neurology at the University of Michigan and fellow...
Dr. Mackenzie completed his undergraduate studies at Cornell University before earning a Master's degree in exercise science at the University of Delaware and his MD and PhD degrees at SUNY Upstate Medical University. He 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.

Faculty Appointments

Assistant Professor - Department of Neurology, NMD (SMD)

Assistant Professor - Department of Neuroscience (SMD) - Joint

Assistant Professor - Department of Pediatrics (SMD) - Joint

Credentials

Residency & Fellowship

Fellowship, Neuromuscular Medicine, Ohio State University Wexner Medical Center. 2020 - 2021

Residency, Pediatric Neurology, University of Michigan Medical School. 2017 - 2020

Internship, Pediatrics, University of Michigan Medical School. 2015 - 2017

Education

MD | SUNY Upstate College of Health Professions. 2015

Research

Dr. Mackenzie is a physician-scientist with clinical and research interests in pediatric neuromuscular disorders. His overall research goals involve bringing novel gene-based therapies to patients with rare conditions through a variety of basic and translational approaches. He recently received NIH-...
Dr. Mackenzie is a physician-scientist with clinical and research interests in pediatric neuromuscular disorders. His overall research goals involve bringing novel gene-based therapies to patients with rare conditions through a variety of basic and translational approaches. He recently received NIH-NINDS funding to study RNA-targeted oligonucleotides in murine models of myotonic dystrophy, currently serves as a sub-investigator on a phase III clinical trial for microdystrophin gene therapy for boys with Duchenne Muscular Dystrophy, and is among the nation's leading experts in TANGO2-related disorder, a rare disease caused by biallelic variants in the TANGO2 gene.

Publications

Journal Articles

Haem's relevance genuine? Re-visiting the roles of TANGO2 homologues including HRG-9 and HRG-10 in .

Sandkuhler SE, Youngs KS, Owlett L, Bandora MB, Naaz A, Kim ES, Wang L, Wojtovich AP, Gupta VA, Sacher M, Mackenzie SJ

bioRxiv : the preprint server for biology.. 2023 December 4 Epub 12/04/2023.

Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.

Miyake CY, Ehsan SA, Zhang L, Mackenzie SJ, Azamian MS, Scott DA, Hernandez-Garcia A, Lalani SR

American journal of medical genetics. Part A.. 2023 July 8 Epub 07/08/2023.

B-complex vitamins for patients with TANGO2-deficiency disorder.

Sandkuhler SE, Zhang L, Meisner JK, Ghaloul-Gonzalez L, Beach CM, Harris D, de Lonlay P, Lalani SR, Miyake CY, Mackenzie SJ

Journal of inherited metabolic disease.. 2022 December 22 Epub 12/22/2022.

Natural History of TANGO2 Deficiency Disorder: Baseline Assessment of 73 Patients.

Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck K, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali C, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson C, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie S, Sacher M, Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian M, Lalani SR

Genetics in medicine : official journal of the American College of Medical Genetics.. 2022 December 3 Epub 12/03/2022.

Benefits of aerobic exercise in myotonic dystrophy type 1.

Mackenzie SJ, Hamel J, Thornton CA

The Journal of clinical investigation.. 2022 May 16132 (10)Epub 1900 01 01.

Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA) following SARS-CoV2 vaccination

Bajwa, J.S.; Harp, J.; Mackenzie, S.J.; Thiele, R.

Brown Hospital Medicine. 2022; 1(4).

Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA).

Powell AR, Ames EG, Knierbein EN, Hannibal MC, Mackenzie SJ

Pediatric neurology.. 2021 June 119 :34-39. Epub 03/08/2021.

Genetic testing utilization for patients with neurologic disease and the limitations of claims data.

Mackenzie SJ, Lin CC, Todd PK, Burke JF, Callaghan BC

Neurology. Genetics.. 2020 April 6 (2):e405. Epub 02/26/2020.

Cauda equina repair in the rat: Part 3. Axonal regeneration across Schwann cell-Seeded collagen foam.

Mackenzie SJ, Yi JL, Singla A, Russell TM, Osterhout DJ, Calancie B

Muscle & nerve.. 2018 January 57 (1):E78-E84. Epub 08/13/2017.

Innervation and function of rat tail muscles for modeling cauda equina injury and repair.

MacKenzie SJ, Yi JL, Singla A, Russell TM, Calancie B

Muscle & nerve.. 2015 July 52 (1):94-102. Epub 05/29/2015.

Cauda equina repair in the rat: part 2. Time course of ventral root conduction failure.

Mackenzie SJ, Smirnov I, Calancie B

Journal of neurotrauma.. 2012 May 2029 (8):1683-90. Epub 05/05/2011.

Short term auditory pacing changes dual motor task coordination in children with and without dyslexia.

Getchell N, Mackenzie SJ, Marmon AR

Adapted physical activity quarterly : APAQ.. 2010 January 27 (1):32-46. Epub 1900 01 01.

Using grasping tasks to evaluate hand force coordination in children with hemiplegic cerebral palsy.

Mackenzie SJ, Getchell N, Modlesky CM, Miller F, Jaric S

Archives of physical medicine and rehabilitation.. 2009 August 90 (8):1439-42. Epub 1900 01 01.

Multi-limb coordination and rhythmic variability under varying sensory availability conditions in children with DCD.

Mackenzie SJ, Getchell N, Deutsch K, Wilms-Floet A, Clark JE, Whitall J

Human movement science.. 2008 April 27 (2):256-69. Epub 04/03/2008.

Teaming up for senior fitness: A group-based approach

Orsega-Smith, E., Getchell, N., Neeld, K., Mackenzie, S. J.

Journal of Physical Education, Recreation and Dance. 79: 39-44.

Books

Introduction to Human Motor Development (2008)

Chapter: Factors affecting motor development

Authors: Getchell, N., Wei, H., and Mackenzie, S. J.

Publisher: People's Education Press 2008

Ratings & Reviews

At URMC, we believe that patients should be empowered to make the right decisions regarding their personal healthcare. To do so, transparency is critical. URMC partners with Press Ganey, to survey our patients about all aspects of their care experience. We are now putting this pertinent information at your fingertips by displaying star ratings for our providers along with anonymous patient comments on our website. This will help you make better-informed choices about how and with whom you seek care. Click here to learn more about the surveys used to generate this vital information. Learn more about our survey process.