JohnFrancoisStaropoliMDPhD

PubMed

• 5 citations
  Increased systemic HSP70B levels in spinal muscular atrophy infants
  Eric J. Eichelberger, Christiano R. R. Alves, Ren Zhang, Marco Petrillo, Patrick Cullen, Wildon Farwell, Jessica A. Hurt, John F. Staropoli, Kathryn J. Swoboda> ;Annals of Clinical and Translational Neurology. 2021 May 15
• 15 citations
  Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort
  Cynthia C. Jones, Suzanne F. Cook, Jill Jarecki, Lisa Belter, Sandra P. Reyna, John F. Staropoli, Wildon Farwell, Kenneth Hobby> ;Journal of Neuromuscular Diseases. 2020 Jan 1
• 318 citations
  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, Wuh-Liang Hwu, Thomas O. Crawford, Richard S. Finkel, Janbernd Kirschner, Nancy L. Kuntz, Julie A. Parsons, Moni...> ;Neuromuscular Disorders. 2019 Sep 12
• 122 citations
  Neurofilament as a potential biomarker for spinal muscular atrophy
  Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Maryam Oskoui, Eduardo F. Tizzano, Monique M. Ryan, Francesco Muntoni, Guol...> ;Annals of Clinical and Translational Neurology. 2019 Apr 17
• 357 citations
  Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
  Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Ri...> ;Neuron. 2018 Mar 21
• 132 citations
  Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis
  Michael E. Ward, Robert Y. Chen, Hsin-Yi Huang, Connor H. Ludwig, Maria Telpoukhovskaia, Ali Taubes, Hélène Boudin, S. Sakura Minami, Meredith Reichert, Philipp Albrec...> ;Science Translational Medicine. 2017 Apr 12
• 85 citations
  SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage
  Mohini Jangi, Christina Fleet, Patrick Cullen, Shipra V. Gupta, Shila Mekhoubad, Eric Chiao, Norm Allaire, Frank Rigo, Adrian R. Krainer, Jessica A. Hurt, John P. Caru...> ;Proceedings of the National Academy of Sciences of the United States of America. 2017 Mar 7
• 21 citations
  Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
  Samuel F. Berkovic, John F. Staropoli, Stirling Carpenter, Karen Oliver, Stanislav Kmoch, Glenn Anderson, John A. Damiano, Michael S. Hildebrand, Katherine B. Sims, Su...> ;Neurology. 2016 Aug 9
• 49 citations
  Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation
  Michael X. Henderson, Gregory S. Wirak, Yong-quan Zhang, Feng Dai, Stephen D. Ginsberg, Natalia Dolzhanskaya, John F. Staropoli, Peter C G Nijssen, TuKiet T. Lam, Amy ...> ;Acta Neuropathologica. 2016 Apr 1
• 158 citations
  Practical Murine Hematopathology: A Comparative Review and Implications for Research
  Karyn E. O'Connell, Amy M Mikkola, Aaron M Stepanek, Andyna Vernet, Christopher D Hall, Chia Chi Sun, Eda Yildirim, John F. Staropoli, Jeannie T. Lee, Diane E. Brown> ;Comparative Medicine. 2015 Apr 1
• 29 citations
  Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7.
  John F. Staropoli, Huo Li, Seung J. Chun, Norm Allaire, Patrick Cullen, Alice Thai, Christina Fleet, Yimin Hua, Adrian R. Krainer, Doug Kerr, Alexander McCampbell, Fra...> ;Genomics. 2015 Apr 1
• 707 citations
  Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
  Elizabeth T. Cirulli, Brittany N. Lasseigne, Slavé Petrovski, Peter C. Sapp, Patrick A. Dion, Claire S. Leblond, Julien Couthouis, Yi-Fan Lu, Quanli Wang, Brian J. Kru...> ;Science. 2015 Mar 27
• 49 citations
  Redefining the MED13L syndrome.
  Abidemi A. Adegbola, Luciana Musante, Bert Callewaert, Patrícia Maciel, Hao Hu, Bertrand Isidor, Sylvie Picker-Minh, Cédric Le Caignec, Barbara Delle Chiaie, Olivier V...> ;European Journal of Human Genetics. 2015 Mar 11
• 58 citations
  Newborn Blood Spot Screening Test Using Multiplexed Real-Time PCR to Simultaneously Screen for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
  Jennifer L. Taylor, Francis K. Lee, Golriz Khadem Yazdanpanah, John F. Staropoli, Mei Liu, John P. Carulli, Chao Sun, Steven F. Dobrowolski, W. Harry Hannon, Robert F....> ;Clinical Chemistry. 2015 Feb 1
• 102 citations
  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, Alexandra M. Simas, Larissa Haliw, Martin K. Selig, Scott H. Coppel, Kendrick A. Goss, Anton Petcherski, Uma ...> ;Human Molecular Genetics. 2014 Apr 15
• 51 citations
  Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum
  Susan L. Cotman, Amel Karaa, John F. Staropoli, Katherine B. Sims> ;Current Neurology and Neuroscience Reports. 2013 Jun 18
• 86 citations
  Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis
  Katherine R. Smith, Hans Henrik M. Dahl, Laura Canafoglia, Eva Andermann, John A. Damiano, Michela Morbin, Amalia C. Bruni, Giorgio Giaccone, Patrick Cossette, Paul Sa...> ;Human Molecular Genetics. 2013 Apr 1
• 78 citations
  A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
  John F. Staropoli, Amel Karaa, Elaine T. Lim, Andrew Kirby, Naser Elbalalesy, Stephen G. Romansky, Karen Leydiker, Scott H. Coppel, Rosemary Barone, Winnie Xin, Marcy ...> ;American Journal of Human Genetics. 2012 Jul 13
• 13 citations
  An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation
  John F. Staropoli, Winnie Xin, Rosemary Barone, Susan L. Cotman, Katherine B. Sims> ;BMC Medical Genetics. 2012 Jun 24
• 353 citations
  Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
  Katherine R. Smith, John A. Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara E. Mole, John ...> ;American Journal of Human Genetics. 2012 Jun 8
• 51 citations
  Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System
  John F. Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M. Hölter, Lore Becker, Sergej Skosyrski, Patricia da Silva-Buttkus, Julia Calzada-Wack, Frauk...> ;Plos One. 2012 Jun 6
• 64 citations
  The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking
  Susan L. Cotman, John F. Staropoli> ;Clinical Lipidology. 2012 Feb 7
• 47 citations
  SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience
  Jeffrey A. Brown, Jionghong Min, John F. Staropoli, Elisa Collin, Stephen Bi, Xin Feng, Rosemary Barone, Yi Cao, Lei O'malley, Winnie Xin, Thomas E. Mullen, Katherine ...> ;Amyotrophic Lateral Sclerosis. 2012 Jan 31
• 61 citations
  Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
  Milen Velinov, Natalia Dolzhanskaya, Michael A. Gonzalez, Eric Powell, Ioanna Konidari, William Hulme, John F. Staropoli, Winnie Xin, Guang Y. Wen, Rosemary Barone, Sc...> ;Plos One. 2012 Jan 3
• 3 citations
  Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.
  Annette Leon, John F. Staropoli, Jesús M. Hernández, Janina A. Longtine, Frank C. Kuo, Paola Dal Cin> ;Leukemia Research. 2011 Sep 1
• Join now to see all