Louis M. Kunkel

Boston Children's Hospital — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

103h-index46.8kcitations355works1.82yr avg
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Research Topics

Muscle Physiology and Disorders(225), RNA Research and Splicing(57), Cardiomyopathy and Myosin Studies(42), Neurogenetic and Muscular Disorders Research(39), Adipose Tissue and Metabolism(35)

Publications353 total

Conditional Dmd ablation in muscle and brain causes profound effects on muscle function and neurobehavior
Communications Biology·2025· 2 citedOpen Access
Muscle-specific increased expression of <i>JAG1</i> improves the skeletal muscle phenotype in dystrophin-deficient mice
Proceedings of the National Academy of Sciences·2025Open Access
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies
2025· 1 citedOpen Access
Identifying kinematic biomarkers of the dystrophic phenotype in a zebrafish model of Duchenne muscular dystrophy
Skeletal Muscle·2025· 1 citedOpen Access
Muscle-specific increased expression of <i>JAG1</i> improves skeletal muscle phenotype in dystrophin-deficient mice.
2025· 2 citedOpen Access
Interstitial Cystitis: a phenotype and rare variant exome sequencing study
2025Open Access
Conditional <i>Dystrophin</i> ablation causes profound effects on muscle development, neurobehavior, and extracellular matrix pathways
2025· 1 citedOpen Access
Effects of <scp>HMG CoA</scp> reductase ( <scp>HMGCR</scp> ) deficiency on skeletal muscle development
FEBS Journal·2025· 3 citedOpen Access
High resolution kinematic approach for quantifying impaired mobility of dystrophic zebrafish larvae
2024· 6 citedOpen Access
Dominant stop‐loss <i>HNRNPA1</i> variants in juvenile‐onset myopathy
Muscle & Nerve·2024Open Access
Effects of HMGCR deficiency on skeletal muscle development
2024· 2 citedOpen Access
Corrigendium: Effects of RAS on the genesis of embryonal rhabdomyosarcoma
Genes & Development·2024Open Access
P285 Bi-allelic variants in HMGCR cause limb girdle muscular dystrophy and further implicate the mevalonate pathway in muscle disease
Neuromuscular Disorders·2023· 1 cited
Optimizing assays of zebrafish larvae swimming performance for drug discovery
Expert Opinion on Drug Discovery·2023· 17 citedOpen Access
MP60-02 ATP2C1 IS A CANDIDATE FOR INTERSTITIAL CYSTITIS/BLADDER PAIN SYNDROME
The Journal of Urology·2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
Acta Neuropathologica·2023· 9 citedOpen Access
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort
Advanced Genetics·2022· 4 citedOpen Access
Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations
Molecular Therapy — Nucleic Acids·2022Open Access
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype
Neuromuscular Disorders·2022· 9 citedOpen Access
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
Annals of Clinical and Translational Neurology·2022· 39 citedOpen Access
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Frequent Co-authors

Eric P. Hoffman(13), Anthony P. Monaco(8), M. Kœnig(5), Emanuela Gussoni(5), Alan H. Beggs(5), Hart G.W. Lidov(5), Corlee J. Bertelson(4), Isaac S. Kohane(4), T J Byers(4), Simon C. Watkins(4), Kenneth H. Fischbeck(3), Elizabeth M. McNally(3), Robert H. Brown(2), C. Feener(2), Sabina Liechti‐Gallati(2), Hans Moser(2), Klaus Wrogemann(2), G.J.B. van Ommen(2), S. Noguchi(2), Yuji Mizuno(2)