mTORopathies: A Road Well-Traveled

por Crino, Peter B.
Publicado 2020

Vascularization in mTOR Mouse Mutants: An Effort Not in Vein

por Elziny, Soad, Crino, Peter B.
Publicado 2023

Genetics of tuberous sclerosis complex: implications for clinical practice

por Caban, Carolina, Khan, Nubaira, Hasbani, Daphne M, Crino, Peter B
Publicado 2016

A Patient Perspective on Seizure Detection and Forecasting

por Moss, Aria, Moss, Evan, Moss, Robert, Moss, Lisa, Chiang, Sharon, Crino, Peter
Publicado 2022

BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models

por Park, Su Mi, Roache, Cooper E, Iffland, Philip H, Moldenhauer, Hans J, Matychak, Katia K, Plante, Amber E, Lieberman, Abby G, Crino, Peter B, Meredith, Andrea
Publicado 2022

The TARC/sICAM5 Ratio in Patient Plasma is a Candidate Biomarker for Drug Resistant Epilepsy

por Pollard, John R., Eidelman, Ofer, Mueller, Gregory P., Dalgard, Clifton L., Crino, Peter B., Anderson, Christopher T., Brand, Elizabeth J., Burakgazi, Evren, Ivaturi, Sai K., Pollard, Harvey B.
Publicado 2013

Epileptogenic but MRI-normal perituberal tissue in Tuberous Sclerosis Complex contains tuber-specific abnormalities

por Sosunov, Alexander A, McGovern, Robert A, Mikell, Charles B, Wu, Xiaoping, Coughlin, David G, Crino, Peter B, Weiner, Howard L, Ghatan, Saadi, Goldman, James E, McKhann, Guy M
Publicado 2015

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly

por Griffin, Nicole G., Cronin, Kenneth D., Walley, Nicole M., Hulette, Christine M., Grant, Gerald A., Mikati, Mohamad A., LaBreche, Heather G., Rehder, Catherine W., Allen, Andrew S., Crino, Peter B., Heinzen, Erin L.
Publicado 2017

Multimodal Analysis of STRADA Function in Brain Development

por Dang, Louis T., Glanowska, Katarzyna M., Iffland II, Philip H., Barnes, Allan E., Baybis, Marianna, Liu, Yu, Patino, Gustavo, Vaid, Shivanshi, Streicher, Alexandra M., Parker, Whitney E., Kim, Seonhee, Moon, Uk Yeol, Henry, Frederick E., Murphy, Geoffrey G., Sutton, Michael, Parent, Jack M., Crino, Peter B.
Publicado 2020

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

por Scerri, Thomas, Riseley, Jessica R, Gillies, Greta, Pope, Kate, Burgess, Rosemary, Mandelstam, Simone A, Dibbens, Leanne, Chow, Chung W, Maixner, Wirginia, Harvey, Anthony Simon, Jackson, Graeme D, Amor, David J, Delatycki, Martin B, Crino, Peter B, Berkovic, Samuel F, Scheffer, Ingrid E, Bahlo, Melanie, Lockhart, Paul J, Leventer, Richard J
Publicado 2015

Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex

por Mühlebner, Angelika, van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., van den Ouweland, Ans M. W., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G. M., Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, Aronica, Eleonora
Publicado 2016

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

por Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., Aronica, Eleonora
Publicado 2017

Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period

por Korotkov, Anatoly, Luinenburg, Mark J., Romagnolo, Alessia, Zimmer, Till S., van Scheppingen, Jackelien, Bongaarts, Anika, Broekaart, Diede W. M., Anink, Jasper J., Mijnsbergen, Caroline, Jansen, Floor E., van Hecke, Wim, Spliet, Wim G., van Rijen, Peter C., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Crino, Peter B., Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C., Kwiatkowski, David J., Jozwiak, Sergiusz, Curatolo, Paolo, Mühlebner, Angelika, van Vliet, Erwin A., Mills, James D., Aronica, Eleonora
Publicado 2022

Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

por Mills, James D., Iyer, Anand M., van Scheppingen, Jackelien, Bongaarts, Anika, Anink, Jasper J., Janssen, Bart, Zimmer, Till S., Spliet, Wim G., van Rijen, Peter C., Jansen, Floor E., Feucht, Martha, Hainfellner, Johannes A., Krsek, Pavel, Zamecnik, Josef, Kotulska, Katarzyna, Jozwiak, Sergiusz, Jansen, Anna, Lagae, Lieven, Curatolo, Paolo, Kwiatkowski, David J., Pasterkamp, R. Jeroen, Senthilkumar, Ketharini, von Oerthel, Lars, Hoekman, Marco F., Gorter, Jan A., Crino, Peter B., Mühlebner, Angelika, Scicluna, Brendon P., Aronica, Eleonora
Publicado 2022

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

por Jinks, Robert N., Puffenberger, Erik G., Baple, Emma, Harding, Brian, Crino, Peter, Fogo, Agnes B., Wenger, Olivia, Xin, Baozhong, Koehler, Alanna E., McGlincy, Madeleine H., Provencher, Margaret M., Smith, Jeffrey D., Tran, Linh, Al Turki, Saeed, Chioza, Barry A., Cross, Harold, Harlalka, Gaurav V., Hurles, Matthew E., Maroofian, Reza, Heaps, Adam D., Morton, Mary C., Stempak, Lisa, Hildebrandt, Friedhelm, Sadowski, Carolin E., Zaritsky, Joshua, Campellone, Kenneth, Morton, D. Holmes, Wang, Heng, Crosby, Andrew, Strauss, Kevin A.
Publicado 2015

MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis

por Korotkov, Anatoly, Sim, Nam Suk, Luinenburg, Mark J., Anink, Jasper J., van Scheppingen, Jackelien, Zimmer, Till S., Bongaarts, Anika, Broekaart, Diede W. M., Mijnsbergen, Caroline, Jansen, Floor E., Van Hecke, Wim, Spliet, Wim G. M., van Rijen, Peter C., Feucht, Martha, Hainfellner, Johannes A., Kršek, Pavel, Zamecnik, Josef, Crino, Peter B., Kotulska, Katarzyna, Lagae, Lieven, Jansen, Anna C., Kwiatkowski, David J., Jozwiak, Sergiusz, Curatolo, Paolo, Mühlebner, Angelika, Lee, Jeong H., Mills, James D., van Vliet, Erwin A., Aronica, Eleonora
Publicado 2021

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

por Levitin, Maria O, Rawlins, Lettie E, Sanchez-Andrade, Gabriela, Arshad, Osama A, Collins, Stephan C, Sawiak, Stephen J, Iffland, Phillip H, Andersson, Malin H L, Bupp, Caleb, Cambridge, Emma L, Coomber, Eve L, Ellis, Ian, Herkert, Johanna C, Ironfield, Holly, Jory, Logan, Kretz, Perrine F, Kant, Sarina G, Neaverson, Alexandra, Nibbeling, Esther, Rowley, Christine, Relton, Emily, Sanderson, Mark, Scott, Ethan M, Stewart, Helen, Shuen, Andrew Y, Schreiber, John, Tuck, Liz, Tonks, James, Terkelsen, Thorkild, van Ravenswaaij-Arts, Conny, Vasudevan, Pradeep, Wenger, Olivia, Wright, Michael, Day, Andrew, Hunter, Adam, Patel, Minal, Lelliott, Christopher J, Crino, Peter B, Yalcin, Binnaz, Crosby, Andrew H, Baple, Emma L, Logan, Darren W, Hurles, Matthew E, Gerety, Sebastian S
Publicado 2023