Last Updated: 09/26/2026
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Found 195 publications
Single nuclei/cell transcriptomics reveal DMD driven cell dynamics and mechanisms of fibroblast inflammatory tissue priming in human dystrophic muscle.
Journal: Research square
Published: April 17, 2026
Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: January 16, 2026
Heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1) maintains muscle progenitor identity by stabilizing the Ppp1r1b-lncRNA-PRC2 complex.
Journal: Nucleic acids research
Published: November 28, 2025
Heart Transplantation and Ventricular Assist Device in Duchenne Muscular Dystrophy: A New Era.
Journal: Pediatric transplantation
Published: May 26, 2025
Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 02, 2025
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
Journal: The New England journal of medicine
Published: April 02, 2025
Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.
Journal: Molecular medicine (Cambridge, Mass.)
Published: March 13, 2025
Real-world treatment and health care utilization among patients with Duchenne muscular dystrophy by race and ethnicity in a Medicaid population.
Journal: Journal of managed care & specialty pharmacy
Published: February 06, 2025
ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 15, 2024
Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Journal: Nature communications
Published: November 11, 2024
Alpha-1 Antitrypsin Deficiency in a Young Never Smoker With Novel Pi*Null Homozygous Mutation: a Case Report.
Journal: Chronic obstructive pulmonary diseases (Miami, Fla.)
Published: October 02, 2024
Access to novel therapies for Duchenne muscular dystrophy-Insights from expert treating physicians.
Journal: Annals of the Child Neurology Society
Published: May 08, 2024
Last Updated: 09/26/2026