Patricia L. Musolino

Harvard University — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

26h-index2.1kcitations95works4.82yr avg
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Research Topics

Peroxisome Proliferator-Activated Receptors(27), Acute Ischemic Stroke Management(13), Blood Coagulation and Thrombosis Mechanisms(10), Metabolism and Genetic Disorders(10), Connective tissue disorders research(8)

Publications93 total

Use of Brain MRI in Cerebral Adrenoleukodystrophy
Neurology·2026· 1 citedOpen Access
Abstract TP372: Preliminary Report of Longitudinal Natural History Cardiovascular Disease Features in <i>ACTA2 R179</i> MSMDS
Stroke·2026
Structural and functional gastrointestinal abnormalities in ACTA2 R179H mice modeling multisystemic smooth muscle dysfunction syndrome
JCI Insight·2026Open Access
Intravenous Thrombolysis for Pediatric Acute Ischemic Stroke
JAMA Network Open·2025Open Access
Involvement of the Posterior Visual Pathway Correlates With Higher-Order Visual Impairment in Childhood Stroke Participants Detected by Virtual Reality/Eye-Tracking Paradigm
Pediatric Neurology·2025Open Access
Spatial Gradient of White Matter Microstructure Discriminates Progressive vs Non-Progressive Cerebral Adrenoleukodystrophy
Proceedings on CD-ROM - International Society for Magnetic Resonance in Medicine. Scientific Meeting and Exhibition/Proceedings of the International Society for Magnetic Resonance in Medicine, Scientific Meeting and Exhibition·2025
Treatment of a severe vascular disease using a bespoke CRISPR–Cas9 base editor in mice
Nature Biomedical Engineering·2025· 6 citedOpen Access
COL4A1- and COL4A2-Related Disorders—Clinical Features, Diagnostic Guidelines, and Management
2025Open Access
Ophthalmic Artery Occlusion as a Novel Ophthalmic Manifestation of ACTA2- Related Vascular Smooth Muscle Disorder
Ophthalmic surgery, lasers & imaging retina·2025
Gene therapy in cardiac and vascular diseases: a review of approaches to treat genetic and common cardiovascular diseases with novel gene-based therapeutics
Cardiovascular Research·2025· 6 citedOpen Access
Microvascular and Blood–Brain Barrier Dysfunction in COL4A1-Related cSVD Can Be Identified by MR DSC Perfusion Imaging
2025Open Access
An opportune time for targeted brain arteriovenous malformation therapy
Journal of neurosurgery·2025Open Access
Developing Gene-Targeted Therapies for COL4A1- and COL4A2-Related Disorders: Opportunities and Challenges
2025Open Access
Novel retinal imaging findings in a pediatric patient with de novo <i>ACTA2 R179H</i> pathogenic variant
Ophthalmic Genetics·2025
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management
Genetics in Medicine·2025· 7 citedOpen Access
Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial
EClinicalMedicine·2025· 3 citedOpen Access
Genetic Insights Into Hemorrhagic Stroke and Vascular Malformations: Pathogenesis and Emerging Therapeutic Strategies
Stroke·2025· 5 cited
TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV
Journal of the American Society of Nephrology·2024· 2 cited
Exploring the Relationship Between Radiation-Induced Moyamoya Syndrome and Radiation Dose for Pediatric Patients Treated With Proton Radiation Therapy
International Journal of Radiation Oncology*Biology*Physics·2024
<i>In vivo</i> Treatment of a Severe Vascular Disease via a Bespoke CRISPR-Cas9 Base Editor
2024· 2 citedOpen Access
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Frequent Co-authors

Florian Eichler(15), Paul A. Caruso(9), Christine Duncan(6), Troy C. Lund(6), Peter B. Sporns(6), Hans Henkes(6), Omid Nikoubashman(6), Daniel Kaiser(6), Wolfgang Marik(6), Stefan Schob(6), Christina Wendl(6), Sarah Lee(6), Moritz Wildgruber(6), André Kemmling(6), Marcelo J. Villar(6), Paul J. Orchard(5), René Chapot(5), Astrid Grams(5), Franziska Dorn(5), Martin Wiesmann(5)