Colleen Muraresku

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations

Cesar Alves, Sara Reis Teixeira, Juan Sebastián Martín-Saavedra et al. · Annals of Neurology · 2020 · 77 citations

Life Sciences, Genetics, Neurology +17

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mitochondrial Disease: Advances in Clinical Diagnosis, Management, Therapeutic Development, and Preventative Strategies

Colleen Muraresku, Elizabeth M. McCormick, Marni J. Falk · Current Genetic Medicine Reports · 2018 · 66 citations · Full text

Life Sciences, Molecular Genetics, Molecular Medicine +17

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy

Karen L. Madsen, Astrid Emilie Buch, Bruce H. Cohen et al. · Neurology · 2020 · 59 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +14

An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy

Alistair T. Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou et al. · Brain · 2020 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17