Cord Formation in a Clinical Isolate of Mycobacterium marinum

Por Staropoli, John F., Branda, John A.
Publicado em 2008

The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking

Por Cotman, Susan L, Staropoli, John F
Publicado em 2012

Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

Por Cotman, Susan L., Karaa, Amel, Staropoli, John F., Sims, Katherine B.
Publicado em 2013

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

Por Staropoli, John F, Xin, Winnie, Barone, Rosemary, Cotman, Susan L, Sims, Katherine B
Publicado em 2012

Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells

Por Cao, Yi, Staropoli, John F., Biswas, Sunita, Espinola, Janice A., MacDonald, Marcy E., Lee, Jong-Min, Cotman, Susan L.
Publicado em 2011

Practical Murine Hematopathology: A Comparative Review and Implications for Research

Por O'Connell, Karyn E, Mikkola, Amy M, Stepanek, Aaron M, Vernet, Andyna, Hall, Christopher D, Sun, Chia C, Yildirim, Eda, Staropoli, John F, Lee, Jeannie T, Brown, Diane E
Publicado no Comp Med (2015)

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

Por Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan
Publicado em 2012

Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

Por Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan
Publicado em 2012

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

Por Jangi, Mohini, Fleet, Christina, Cullen, Patrick, Gupta, Shipra V., Mekhoubad, Shila, Chiao, Eric, Allaire, Norm, Bennett, C. Frank, Rigo, Frank, Krainer, Adrian R., Hurt, Jessica A., Carulli, John P., Staropoli, John F.
Publicado no Proc Natl Acad Sci U S A (2017)

Neuronal ceroid lipofuscinosis with DNAJC5/CSP mutations have PPT1 pathology and exhibit aberrant protein palmitoylation

Por Henderson, Michael X., Wirak, Gregory S., Zhang, Yong-quan, Dai, Feng, Ginsberg, Stephen D., Dolzhanskaya, Natalia, Staropoli, John F., Nijssen, Peter CG, Lam, TuKiet T, Roth, Amy F., Davis, Nicholas G., Dawson, Glyn, Velinov, Milen, Chandra, Sreeganga S.
Publicado no Acta Neuropathol (2015)

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

Por Staropoli, John F., Karaa, Amel, Lim, Elaine T., Kirby, Andrew, Elbalalesy, Naser, Romansky, Stephen G., Leydiker, Karen B., Coppel, Scott H., Barone, Rosemary, Xin, Winnie, MacDonald, Marcy E., Abdenur, Jose E., Daly, Mark J., Sims, Katherine B., Cotman, Susan L.
Publicado em 2012

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

Por Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav
Publicado em 2011

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

Por Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav
Publicado em 2011

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Por Smith, Katherine R., Damiano, John, Franceschetti, Silvana, Carpenter, Stirling, Canafoglia, Laura, Morbin, Michela, Rossi, Giacomina, Pareyson, Davide, Mole, Sara E., Staropoli, John F., Sims, Katherine B., Lewis, Jada, Lin, Wen-Lang, Dickson, Dennis W., Dahl, Hans-Henrik, Bahlo, Melanie, Berkovic, Samuel F.
Publicado em 2012

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Por Berkovic, Samuel F., Staropoli, John F., Carpenter, Stirling, Oliver, Karen L., Kmoch, Stanislav, Anderson, Glenn W., Damiano, John A., Hildebrand, Michael S., Sims, Katherine B., Cotman, Susan L., Bahlo, Melanie, Smith, Katherine R., Cadieux-Dion, Maxime, Cossette, Patrick, Jedličková, Ivana, Přistoupilová, Anna, Mole, Sara E.
Publicado no Neurology (2016)

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Por Smith, Katherine R., Dahl, Hans-Henrik M., Canafoglia, Laura, Andermann, Eva, Damiano, John, Morbin, Michela, Bruni, Amalia C., Giaccone, Giorgio, Cossette, Patrick, Saftig, Paul, Grötzinger, Joachim, Schwake, Michael, Andermann, Frederick, Staropoli, John F., Sims, Katherine B., Mole, Sara E., Franceschetti, Silvana, Alexander, Noreen A., Cooper, Jonathan D., Chapman, Harold A., Carpenter, Stirling, Berkovic, Samuel F., Bahlo, Melanie
Publicado em 2013

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

Por Lojewski, Xenia, Staropoli, John F., Biswas-Legrand, Sunita, Simas, Alexandra M., Haliw, Larissa, Selig, Martin K., Coppel, Scott H., Goss, Kendrick A., Petcherski, Anton, Chandrachud, Uma, Sheridan, Steven D., Lucente, Diane, Sims, Katherine B., Gusella, James F., Sondhi, Dolan, Crystal, Ronald G., Reinhardt, Peter, Sterneckert, Jared, Schöler, Hans, Haggarty, Stephen J., Storch, Alexander, Hermann, Andreas, Cotman, Susan L.
Publicado em 2014

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

Por Ward, Michael E., Chen, Robert, Huang, Hsin-Yi, Ludwig, Connor, Telpoukhovskaia, Maria, Taubes, Ali, Boudin, Helene, Minami, Sakura S., Reichert, Meredith, Albrecht, Philipp, Gelfand, Jeffrey M., Cruz-Herranz, Andres, Cordano, Christian, Alavi, Marcel V., Leslie, Shannon, Seeley, William W., Miller, Bruce L., Bigio, Eileen, Mesulam, Marek-Marsel, Bogyo, Matthew S., Mackenzie, Ian R., Staropoli, John F., Cotman, Susan L., Huang, Eric J., Gan, Li, Green, Ari J.
Publicado no Sci Transl Med (2017)

Redefining the MED13L syndrome

Por Adegbola, Abidemi, Musante, Luciana, Callewaert, Bert, Maciel, Patricia, Hu, Hao, Isidor, Bertrand, Picker-Minh, Sylvie, Le Caignec, Cedric, Delle Chiaie, Barbara, Vanakker, Olivier, Menten, Björn, Dheedene, Annelies, Bockaert, Nele, Roelens, Filip, Decaestecker, Karin, Silva, João, Soares, Gabriela, Lopes, Fátima, Najmabadi, Hossein, Kahrizi, Kimia, Cox, Gerald F, Angus, Steven P, Staropoli, John F, Fischer, Ute, Suckow, Vanessa, Bartsch, Oliver, Chess, Andrew, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Kaindl, Angela M, Kalscheuer, Vera M
Publicado no Eur J Hum Genet (2015)

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

Por De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon
Publicado no Neuromuscul Disord (2019)