Discovery of functional non-coding conserved regions in the α-synuclein gene locus

Por Sterling, Lori, Walter, Michael, Ting, Dennis, Schüle, Birgitt
Publicado no F1000Res (2014)

Is PARKIN parkinsonism a cancer predisposition syndrome?

Por Schüle, Birgitt, Byrne, Christie, Rees, Linda, Langston, J. William
Publicado no Neurol Genet (2015)

Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation

Por Schüle, Birgitt, Oviedo, Angelica, Johnston, Kathreen, Pai, Shashidhar, Francke, Uta
Publicado em 2005

Skin Punch Biopsy Explant Culture for Derivation of Primary Human Fibroblasts

Por Vangipuram, Malini, Ting, Dennis, Kim, Sam, Diaz, Robert, Schüle, Birgitt
Publicado em 2013

Derivation of Leptomeninges Explant Cultures from Postmortem Human Brain Donors

Por Lee, Kelsey, Saetern, Ou Chong, Nguyen, Andrew, Rodriguez, Leonardo, Schüle, Birgitt
Publicado no J Vis Exp (2017)

DLX5 and DLX6 Expression Is Biallelic and Not Modulated by MeCP2 Deficiency

Por Schüle, Birgitt , Li, Hong Hua , Fisch-Kohl, Claudia , Purmann, Carolin , Francke, Uta 
Publicado em 2007

Small Molecules Greatly Improve Conversion of Human-Induced Pluripotent Stem Cells to the Neuronal Lineage

Por Mak, Sally K., Huang, Y. Anne, Iranmanesh, Shifteh, Vangipuram, Malini, Sundararajan, Ramya, Nguyen, Loan, Langston, J. William, Schüle, Birgitt
Publicado em 2012

DICE, an efficient system for iterative genomic editing in human pluripotent stem cells

Por Zhu, Fangfang, Gamboa, Matthew, Farruggio, Alfonso P., Hippenmeyer, Simon, Tasic, Bosiljka, Schüle, Birgitt, Chen-Tsai, Yanru, Calos, Michele P.
Publicado em 2014

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

Por Schüle, Birgitt, Albalwi, Mohammed, Northrop, Emma, Francis, David I, Rowell, Margaret, Slater, Howard R, Gardner, RJ McKinlay, Francke, Uta
Publicado em 2005

SNCA Triplication Parkinson's Patient's iPSC-derived DA Neurons Accumulate α-Synuclein and Are Susceptible to Oxidative Stress

Por Byers, Blake, Cord, Branden, Nguyen, Ha Nam, Schüle, Birgitt, Fenno, Lief, Lee, Patrick C., Deisseroth, Karl, Langston, J. William, Pera, Renee Reijo, Palmer, Theo D.
Publicado em 2011

LRRK2 Mutant iPSC-Derived DA Neurons Demonstrate Increased Susceptibility to Oxidative Stress

Por Nguyen, Ha Nam, Byers, Blake, Cord, Branden, Shcheglovitov, Aleksandr, Byrne, James, Gujar, Prachi, Kee, Kehkooi, Schüle, Birgitt, Dolmetsch, Ricardo E., Langston, William, Palmer, Theo, Reijo Pera, Renee
Publicado em 2011

Functional Impairment in Miro Degradation and Mitophagy Is a Shared Feature in Familial and Sporadic Parkinson’s Disease

Por Hsieh, Chung-Han, Shaltouki, Atossa, Gonzalez, Ashley E., da Cruz, Alexandre Bettencourt, Burbulla, Lena F., St Lawrence, Erica, Schüle, Birgitt, Krainc, Dimitri, Palmer, Theo D., Wang, Xinnan
Publicado no Cell Stem Cell (2016)

Higher Vulnerability and Stress Sensitivity of Neuronal Precursor Cells Carrying an Alpha-Synuclein Gene Triplication

Por Flierl, Adrian, Oliveira, Luís M. A., Falomir-Lockhart, Lisandro J., Mak, Sally K., Hesley, Jayne, Soldner, Frank, Arndt-Jovin, Donna J., Jaenisch, Rudolf, Langston, J. William, Jovin, Thomas M., Schüle, Birgitt
Publicado no PLoS One (2014)

LRRK2 mutations cause mitochondrial DNA damage in iPSC-derived neural cells from Parkinson’s disease patients: Reversal by gene correction

Por Sanders, Laurie H., Laganière, Josée, Cooper, Oliver, Mak, Sally K., Vu, B. Joseph, Huang, Y. Anne, Paschon, David E., Vangipuram, Malini, Sundararajan, Ramya, Urnov, Fyodor D., Langston, J. William, Gregory, Philip D., Zhang, H. Steve, Greenamyre, J. Timothy, Isacson, Ole, Schüle, Birgitt
Publicado em 2013

Elevated Alpha-Synuclein Impairs Innate Immune Cell Function and Provides a Potential Peripheral Biomarker for Parkinson's Disease

Por Gardai, Shyra J., Mao, Wenxian, Schüle, Birgitt, Babcock, Michael, Schoebel, Sue, Lorenzana, Carlos, Alexander, Jeff, Kim, Sam, Glick, Heather, Hilton, Kathryn, Fitzgerald, J. Kent, Buttini, Manuel, Chiou, San-San, McConlogue, Lisa, Anderson, John P., Schenk, Dale B., Bard, Frederique, Langston, J. William, Yednock, Ted, Johnston, Jennifer A.
Publicado em 2013

Identification and Rescue of α-Synuclein Toxicity in Parkinson Patient-Derived Neurons

Por Chung, Chee Yeun, Khurana, Vikram, Auluck, Pavan K., Tardiff, Daniel F., Mazzulli, Joseph R., Soldner, Frank, Baru, Valeriya, Lou, Yali, Freyzon, Yelena, Cho, Sukhee, Mungenast, Alison E., Muffat, Julien, Mitalipova, Maisam, Pluth, Michael D, Jui, Nathan T., Schüle, Birgitt, Lippard, Stephen J., Tsai, Li-Huei, Krainc, Dimitri, Buchwald, Stephen L., Jaenisch, Rudolf, Lindquist, Susan
Publicado em 2013

Inflammatory profile in LRRK2-associated prodromal and clinical PD

Por Brockmann, Kathrin, Apel, Anja, Schulte, Claudia, Schneiderhan-Marra, Nicole, Pont-Sunyer, Claustre, Vilas, Dolores, Ruiz-Martinez, Javier, Langkamp, Markus, Corvol, Jean-Christophe, Cormier, Florence, Knorpp, Thomas, Joos, Thomas O., Gasser, Thomas, Schüle, Birgitt, Aasly, Jan O., Foroud, Tatiana, Marti-Masso, Jose Felix, Brice, Alexis, Tolosa, Eduardo, Marras, Connie, Berg, Daniela, Maetzler, Walter
Publicado no J Neuroinflammation (2016)

Michael J. Fox Foundation Consortium: Geographical Differences in Returning Genetic Research Data to Study Participants

Por Alcalay, Roy N., Aasly, Jan, Berg, Daniela, Bressman, Susan, Brice, Alexis, Brockmann, Kathrin, Chan, Piu, Clark, Lorraine, Corvol, Jean-Christophe, Durr, Alexandra, Farrer, Matthew, Foroud, Tatiana M., Gasser, Thomas, Giladi, Nir, Halter, Cheryl, Hentati, Fayçal, Lang, Anthony, Langston, J. William, Marder, Karen, Marras, Connie, Marti-Masso, Jose-Felix, Martinez, Javier Ruiz, Mejia-Santana, Helen, Mirelman, Anat, Pont, Claustre, Orr-Urtreger, Avi, Raymond, Deborah, Saunders-Pullman, Rachel, Schüle, Birgitt, Tanner, Caroline, Tolosa, Eduardo, Vilas, Dolores, Wise, Adina, Facheris, Maurizio
Publicado no Genet Med (2014)

Clinical Correlations With Lewy Body Pathology in LRRK2-Related Parkinson Disease

Por Kalia, Lorraine V., Lang, Anthony E., Hazrati, Lili-Naz, Fujioka, Shinsuke, Wszolek, Zbigniew K., Dickson, Dennis W., Ross, Owen A., Van Deerlin, Vivianna M., Trojanowski, John Q., Hurtig, Howard I., Alcalay, Roy N., Marder, Karen S., Clark, Lorraine N., Gaig, Carles, Tolosa, Eduardo, Ruiz-Martínez, Javier, Marti-Masso, Jose F., Ferrer, Isidre, de Munain, Adolfo López, Goldman, Samuel M., Schüle, Birgitt, Langston, J. William, Aasly, Jan O., Giordana, Maria T., Bonifati, Vincenzo, Puschmann, Andreas, Canesi, Margherita, Pezzoli, Gianni, De Paula, Andre Maues, Hasegawa, Kazuko, Duyckaerts, Charles, Brice, Alexis, Stoessl, A. Jon, Marras, Connie
Publicado no JAMA Neurol (2015)