John F. Staropoli - Concepedia

Author

John F. Staropoli

Also Known As

Chess, Andrew, J. F. Staropoli, John F Staropoli, John F. Staropoli, John Staropoli, John F. Staropoli, Vincent Meininger

Publications

5.6K

Citations

H-Index

Concepts

All Affiliations

Massachusetts General Hospital Biogen (United States)Harvard University Center for Human Genetics University College London

About

John F. Staropoli is an author at Massachusetts General Hospital specializing in medicine, cell biology, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	12	13	3.3K
2	Natural Sciences	2	2	149
3	Social Sciences	2	2	407
4	Engineering	1	1	972
5	Biology	1	1	35

John F. Staropoli

Publications

4.4K

Citations

H-Index

Page 1

	Year	Citations
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways Elizabeth T. Cirulli, Brittany N. Lasseigne, Slavé Petrovski, Science EngineeringExome SequencingGeneticsImmunologyDisease Gene Identification	2015	972
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, Neuromuscular Disorders Spinal DisorderPediatricsNurture StudySpinal Muscular AtrophyNeurology	2019	602
Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage Katherine R. Smith, John A. Damiano, Silvana Franceschetti, The American Journal of Human Genetics Neurodegenerative DiseasesMendelian DisorderGenetic DisorderExome SequencingGenetics	2012	479
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, Neuron Protein FunctionMolecular NeuroscienceCell DeathKainate ExcitotoxicityProtects Postmitotic Neurons	2003	385
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis Lenka Nosková, Viktor Stránecký, Hana Hartmannová, The American Journal of Human Genetics Linkage MappingNeurogenomicsGeneticsPathologyNeurochemical Biomarkers	2011	261
Neurofilament as a potential biomarker for spinal muscular atrophy Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Annals of Clinical and Translational Neurology	2019	200
Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis Michael E. Ward, Robert Y. Chen, Hsin‐Yi Huang, Science Translational Medicine	2017	190
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway Xenia Lojewski, John F. Staropoli, Sunita Biswas-Legrand, Human Molecular Genetics	2013	137
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis Katherine R. Smith, H H Dahl, Laura Canafoglia, Human Molecular Genetics GeneticsKufs DiseasePathologyMolecular GeneticsDisease Gene Identification	2013	127
SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage Mohini Jangi, Christina Fleet, Patrick Cullen, Proceedings of the National Academy of Sciences	2017	125

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