A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome

por Lino Cardenas, Christian Lacks, Briere, Lauren C., Sweetser, David A., Lindsay, Mark E., Musolino, Patricia L.
Publicado 2023

Microglial dysfunction as a key pathological change in adrenomyeloneuropathy

por Gong, Yi, Sasidharan, Nikhil, Laheji, Fiza, Frosch, Matthew, Musolino, Patricia, Tanzi, Rudy, Kim, Doo Yeon, Biffi, Alessandra, El Khoury, Joseph, Eichler, Florian
Publicado 2017

Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy

por Weinhofer, Isabelle, Rommer, Paulus, Zierfuss, Bettina, Altmann, Patrick, Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Gleiss, Andreas, Musolino, Patricia L., Gong, Yi, Forss-Petter, Sonja, Berger, Thomas, Eichler, Florian, Aubourg, Patrick, Köhler, Wolfgang, Berger, Johannes
Publicado 2021

Burden of Stroke and Population‐Attributable Fractions of Risk Factors in Latin America and the Caribbean

por Pacheco‐Barrios, Kevin, Giannoni‐Luza, Stefano, Navarro‐Flores, Alba, Rebello‐Sanchez, Ingrid, Parente, Joao, Balbuena, Ana, de Melo, Paulo S., Otiniano‐Sifuentes, Ricardo, Rivera‐Torrejón, Oscar, Abanto, Carlos, Alva‐Diaz, Carlos, Musolino, Patricia L., Fregni, Felipe
Publicado 2022

ABCD1 dysfunction alters white matter microvascular perfusion

por Lauer, Arne, Da, Xiao, Hansen, Mikkel Bo, Boulouis, Gregoire, Ou, Yangming, Cai, Xuezhu, Liberato Celso Pedrotti, Afonso, Kalpathy-Cramer, Jayashree, Caruso, Paul, Hayden, Douglas L, Rost, Natalia, Mouridsen, Kim, Eichler, Florian S, Rosen, Bruce, Musolino, Patricia L
Publicado 2017

Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy

por Lauer, Arne, Speroni, Samantha L., Choi, Myoung, Da, Xiao, Duncan, Christine, McCarthy, Siobhan, Krishnan, Vijai, Lusk, Cole A., Rohde, David, Hansen, Mikkel Bo, Kalpathy-Cramer, Jayashree, Loes, Daniel J., Caruso, Paul A., Williams, David A., Mouridsen, Kim, Emblem, Kyrre E., Eichler, Florian S., Musolino, Patricia L.
Publicado 2023

Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family

por Alvarez, Karla Lucia F., Aguilar-Pineda, Jorge Alberto, Ortiz-Manrique, Michelle M., Paredes-Calderon, Marluve F., Cardenas-Quispe, Bryan C., Vera-Lopez, Karin Jannet, Goyzueta-Mamani, Luis D., Chavez-Fumagalli, Miguel Angel, Davila-Del-Carpio, Gonzalo, Peralta-Mestas, Antero, Musolino, Patricia L., Lino Cardenas, Christian Lacks
Publicado 2023

A novel mouse model of cerebral adrenoleukodystrophy highlights NLRP3 activity in lesion pathogenesis

por Hashemi, Ezzat, Narain Srivastava, Isha, Aguirre, Alejandro, Tilahan Yoseph, Ezra, Kaushal, Esha, Awani, Avni, Kyu. Ryu, Jae, Akassoglou, Katerina, Talebian, Shahrzad, Chu, Pauline, Pisani, Laura, Musolino, Patricia, Steinman, Lawrence, Doyle, Kristian, Robinson, William H, Sharpe, Orr, Cayrol, Romain, Orchard, Paul, Lund, Troy, Vogel, Hannes, Lenail, Max, Han, May Htwe, Bonkowsky, Joshua Leith, Van Haren, Keith P.
Publicado 2023

Treatment of calcific arterial disease via enhancement of autophagy using GSK343

por Lino Cardenas, Christian L., Jiang, Wanlin, Kajuluri, Lova P., Singh, Kuldeep, Ostrom, Katrina, Li, Rebecca, Cherbonneau, Francois, Boerboom, Sophie, Birchenough, Claire, Roh, Kangsan, Chou, Elizabeth L., Shahrooz, Zarbafian, Nicholson, Christopher, Johnson, Adam L., Lee, Sujin, Ichinose, Fumito, Bloch, Donald B., Nigwekar, Sagar, Ellinor, Patrick T., Musolino, Patricia, Lindsay, Mark E., Dou, Zhixun, Miller, Clint L., Malhotra, Rajeev
Publicado 2023

Cost-Effectiveness of Endovascular Thrombectomy in Childhood Stroke: An Analysis of the Save ChildS Study

por Kunz, Wolfgang G., Sporns, Peter B., Psychogios, Marios N., Fiehler, Jens, Chapot, René, Dorn, Franziska, Grams, Astrid, Morotti, Andrea, Musolino, Patricia, Lee, Sarah, Kemmling, André, Henkes, Hans, Nikoubashman, Omid, Wiesmann, Martin, Jensen-Kondering, Ulf, Möhlenbruch, Markus, Schlamann, Marc, Marik, Wolfgang, Schob, Stefan, Wendl, Christina, Turowski, Bernd, Götz, Friedrich, Kaiser, Daniel, Dimitriadis, Konstantinos, Gersing, Alexandra, Liebig, Thomas, Ricke, Jens, Reidler, Paul, Wildgruber, Moritz, Mönch, Sebastian
Publicado 2022

Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

por Regalado, Ellen S., Mellor-Crummey, Lauren, De Backer, Julie, Braverman, Alan C., Ades, Lesley, Benedict, Susan, Bradley, Timothy J., Brickner, M. Elizabeth, Chatfield, Kathryn C., Child, Anne, Feist, Cori, Holmes, Kathryn W., Iannucci, Glen, Lorenz, Birgit, Mark, Paul, Morisaki, Takayuki, Morisaki, Hiroko, Morris, Shaine A., Mitchell, Anna L., Ostergaard, John R., Richer, Julie, Sallee, Denver, Shalhub, Sherene, Tekin, Mustafa, Estrera, Anthony, Musolino, Patricia, Yetman, Anji, Pyeritz, Reed, Milewicz, Dianna M.
Publicado 2018