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...

Faculty Appointments

Assistant Professor - Department of Neurology, NMD (SMD)

Assistant Professor - Center for Health and Technology - Joint

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-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

Transitioning From Nusinersen to Risdiplam for Spinal Muscular Atrophy in Clinical Practice: A Single-Center Experience.

Bekircan-Kurt CE, Subramanian S, Chagat S, Mackenzie SJ, Iammarino M, Reash N, Richardson C, Tsao CY, Noritz G, Gushue C, Kotha K, Paul G, Shell R, Alfano LN, Lowes LP, Connolly AM, Waldrop MA

Muscle & nerve.. 2025 January 2 Epub 01/02/2025.

Heme's relevance genuine? Re-visiting the roles of TANGO2 homologs 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.. 2024 November 22 Epub 11/22/2024.

Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.

Owlett LD, Zapanta B, Sandkuhler SE, Ames EG, Hickey SE, Mackenzie SJ, Meisner JK

American journal of medical genetics. Part A.. 2024 October 194 (10):e63778. Epub 06/03/2024.

TANGO2 deficiency disease is predominantly caused by a lipid imbalance.

Sacher M, DeLoriea J, Mehranfar M, Casey C, Naaz A, Gamberi C

Disease models & mechanisms.. 2024 June 117 (6)Epub 06/05/2024.

Miyake CY, Mackenzie SJ, Zhang L

Heart rhythm.. 2024 May 21 (5):707-709. Epub 1900 01 01.

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 September 191 (9):2433-2439. Epub 07/08/2023.

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.. 2023 April 25 (4):100352. Epub 12/05/2022.

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.. 2023 March 46 (2):161-162. Epub 12/30/2022.

The 4-Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy.

Deng S, Lee BH, Ciafaloni E, Mackenzie SJ

Annals of neurology.. 2022 June 91 (6):891. Epub 04/09/2022.

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.

Therapeutic Approaches for Duchenne Muscular Dystrophy: Old and New.

Mackenzie SJ, Nicolau S, Connolly AM, Mendell JR

Seminars in pediatric neurology.. 2021 April 37 :100877. Epub 02/11/2021.

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 & Comments

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Ratings

Care provider's discussion of any proposed treatment (options, risks, benefits, etc.)

4.8

Likelihood of recommending this care provider to others

4.8

Explanations the care provider gave you about your problem or condition

4.8

Care provider's efforts to include you in decisions about your care

4.9

Concern the care provider showed for your questions or worries

4.9

Patient Comments

5.0

[...] neurologist is always compassionate, helpful, and respectful. We feel heard and appreciate that he takes the time to answer all our questions.

Oct 13, 2024

5.0

Dr. Sam Mackenzie is very thorough and attentive. I have recommended him to several friends!

Jul 19, 2023

5.0

Dr. Mackenzie is very thorough and very good at relating his messages to me. Great bedside manner!

Apr 04, 2023

5.0

I cannot say enough positive & wonderful things about this provider.

Mar 28, 2023

5.0

Dr. Mackenzie was extremely helpful in understanding what was going on and offering different options to address. He took into account what we would want and even followed up personally via phone.

Apr 24, 2022