Jonathan Marra

Observational study of spinal muscular atrophy type I and implications for clinical trials

Richard S. Finkel, Michael McDermott, Petra Kaufmann et al. · Neurology · 2014 · 526 citations · Full text

Medicine, Neurology, Geriatric Care +10

Prospective cohort study of spinal muscular atrophy types 2 and 3

Petra Kaufmann, Michael McDermott, Basil T. Darras et al. · Neurology · 2012 · 291 citations · Full text

Medicine, Neurology, Clinical Epidemiology +6

Six-minute walk test is reliable and valid in spinal muscular atrophy

Sally Dunaway Young, Jacqueline Montes, Samantha Kramer et al. · Muscle & Nerve · 2016 · 196 citations

Medicine, Physical Medicine, Rehabilitation Medicine +17

<i>Drosophila</i>Muller F Elements Maintain a Distinct Set of Genomic Properties Over 40 Million Years of Evolution

Wilson Leung, C. Shaffer, Laura K Reed et al. · G3 Genes Genomes Genetics · 2015 · 100 citations · Full text

Life Sciences, Evolutionary Biology, Genetics +16

Identification of a novel nemaline myopathy‐Causing mutation in the troponin T1 (<i>TNNT1</i>) gene: A case outside of the old order amish

Jonathan Marra, Kristin E. Engelstad, Arunkanth Ankala et al. · Muscle & Nerve · 2014 · 35 citations

Medicine, Genetics, Molecular Genetics +15