John F. Staropoli

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Elizabeth T. Cirulli, Brittany N. Lasseigne, Slavé Petrovski et al. · Science · 2015 · 972 citations · Full text

Engineering, Exome Sequencing, Genetics +18

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda et al. · Neuromuscular Disorders · 2019 · 602 citations · Full text

Spinal Disorder, Pediatrics, Nurture Study +7

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John A. Damiano, Silvana Franceschetti et al. · The American Journal of Human Genetics · 2012 · 479 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +15

Parkin Is a Component of an SCF-like Ubiquitin Ligase Complex and Protects Postmitotic Neurons from Kainate Excitotoxicity

John F. Staropoli, Caroline McDermott, Cécile Martinat et al. · Neuron · 2003 · 385 citations · Full text

Protein Function, Molecular Neuroscience, Cell Death +10

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová et al. · The American Journal of Human Genetics · 2011 · 261 citations · Full text

Linkage Mapping, Neurogenomics, Genetics +21