Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina

por Padiath, Quasar S.
Publicado 2019

Confirmation that somatic mutations of beta‐2 microglobulin correlate with a lack of recurrence in a subset of stage II mismatch repair deficient colorectal cancers from the QUASAR trial

por Barrow, Paul, Richman, Susan D, Wallace, Andrew J, Handley, Kelly, Hutchins, Gordon G A, Kerr, David, Magill, Laura, Evans, D Gareth, Gray, Richard, Quirke, Phil, Hill, James
Publicado 2019

Quality of life, sleep and rheumatoid arthritis (QUASAR): a protocol for a prospective UK mHealth study to investigate the relationship between sleep and quality of life in adults with rheumatoid arthritis

por Druce, Katie L, Cordingley, Lis, Short, Vicky, Moore, Susan, Hellman, Bruce, James, Ben, Lunt, Mark, Kyle, Simon D, Dixon, Will G, McBeth, John
Publicado 2018

Quasars, agns and related research across 2000: conference on the occasion of L Woltjer’s 70th birthday held at the Accademia Nazionale dei Lincei, Rome, Italy, 3-5 May 2000

por Setti, Giancarlo, Swings, Jean-Pierre
Publicado 2001

Enhanced differentiation of the mouse oli-neu oligodendroglial cell line using optimized culture conditions

por Bey, Guillermo Rodriguez, Padiath, Quasar Saleem
Publicado 2023

Reengineering Workflow for Curation of DICOM Datasets

por Bennett, William, Smith, Kirk, Jarosz, Quasar, Nolan, Tracy, Bosch, Walter
Publicado 2018

LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family

por Bijarnia-Mahay, Sunita, Roy, Gaurav, Padiath, Quasar S., Saxena, Renu, Verma, Ishwar Chander
Publicado 2021

Progressive Cerebral Small Vessel Disease Caused by an Autoimmune Response to Intravesical Bacille-Calmette-Guérin Treatment

por Becker, Anouck, Grunwald, Iris Quasar, Unger, Marcus M., Behnke, Stefanie, Spiegel, Joerg, Yilmaz, Umut, Walter, Silke, Faßbender, Klaus
Publicado 2020

Impact of mobile stroke units

por Fassbender, Klaus, Merzou, Fatma, Lesmeister, Martin, Walter, Silke, Grunwald, Iris Quasar, Ragoschke-Schumm, Andreas, Bertsch, Thomas, Grotta, James
Publicado 2021

scMAPA: Identification of cell-type–specific alternative polyadenylation in complex tissues

por Bai, Yulong, Qin, Yidi, Fan, Zhenjiang, Morrison, Robert M, Nam, KyongNyon, Zarour, Hassane M, Koldamova, Radosveta, Padiath, Quasar Saleem, Kim, Soyeon, Park, Hyun Jung
Publicado 2022

Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models

por Neri, Irene, Ramazzotti, Giulia, Mongiorgi, Sara, Rusciano, Isabella, Bugiani, Marianna, Conti, Luciano, Cousin, Margot, Giorgio, Elisa, Padiath, Quasar S., Vaula, Giovanna, Cortelli, Pietro, Manzoli, Lucia, Ratti, Stefano
Publicado 2023

A DICOM dataset for evaluation of medical image de-identification

por Rutherford, Michael, Mun, Seong K., Levine, Betty, Bennett, William, Smith, Kirk, Farmer, Phil, Jarosz, Quasar, Wagner, Ulrike, Freyman, John, Blake, Geri, Tarbox, Lawrence, Farahani, Keyvan, Prior, Fred
Publicado 2021

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

por Nmezi, Bruce, Giorgio, Elisa, Raininko, Raili, Lehman, Anna, Spielmann, Malte, Koenig, Mary Kay, Adejumo, Rahmat, Knight, Melissa, Gavrilova, Ralitza, Alturkustani, Murad, Sharma, Manas, Hammond, Robert, Gahl, William A., Toro, Camilo, Brusco, Alfredo, Padiath, Quasar S.
Publicado 2019

Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

por Liao, Jun, Coffman, Keith A., Locker, Joseph, Padiath, Quasar S., Nmezi, Bruce, Filipink, Robyn A., Hu, Jie, Sathanoori, Malini, Madan‐Khetarpal, Suneeta, McGuire, Marianne, Schreiber, Allison, Moran, Rocio, Friedman, Neil, Hoffner, Lori, Rajkovic, Aleksandar, Yatsenko, Svetlana A., Surti, Urvashi
Publicado 2021

TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model

por Sase, Sunetra, Almad, Akshata A, Boecker, C Alexander, Guedes-Dias, Pedro, Li, Jian J, Takanohashi, Asako, Patel, Akshilkumar, McCaffrey, Tara, Patel, Heta, Sirdeshpande, Divya, Curiel, Julian, Shih-Hwa Liu, Judy, Padiath, Quasar, Holzbaur, Erika LF, Scherer, Steven S, Vanderver, Adeline
Publicado 2020

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

por Mancini, Cecilia, Orsi, Laura, Guo, Yiran, Li, Jiankang, Chen, Yulan, Wang, Fengxiang, Tian, Lifeng, Liu, Xuanzhu, Zhang, Jianguo, Jiang, Hui, Nmezi, Bruce Shike, Tatsuta, Takashi, Giorgio, Elisa, Di Gregorio, Eleonora, Cavalieri, Simona, Pozzi, Elisa, Mortara, Paolo, Caglio, Maria Marcella, Balducci, Alessandro, Pinessi, Lorenzo, Langer, Thomas, Padiath, Quasar S, Hakonarson, Hakon, Zhang, Xiuqing, Brusco, Alfredo
Publicado 2015

Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

por Giorgio, Elisa, Rolyan, Harshvardhan, Kropp, Laura, Chakka, Anish Baswanth, Yatsenko, Svetlana, Gregorio, Eleonora Di, Lacerenza, Daniela, Vaula, Giovanna, Talarico, Flavia, Mandich, Paola, Toro, Camilo, Pierre, Eleonore Eymard, Labauge, Pierre, Capellari, Sabina, Cortelli, Pietro, Vairo, Filippo Pinto, Miguel, Diego, Stubbolo, Danielle, Marques, Lourenco Charles, Gahl, William, Boespflug-Tanguy, Odile, Melberg, Atle, Hassin-Baer, Sharon, Cohen, Oren S, Pjontek, Rastislav, Grau, Armin, Klopstock, Thomas, Fogel, Brent, Meijer, Inge, Rouleau, Guy, Bouchard, Jean-Pierre L, Ganapathiraju, Madhavi, Vanderver, Adeline, Dahl, Niklas, Hobson, Grace, Brusco, Alfredo, Brussino, Alessandro, Padiath, Quasar Saleem
Publicado 2013

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study

por Balestrini, Simona, Mikati, Mohamad A., Álvarez-García-Rovés, Reyes, Carboni, Michael, Hunanyan, Arsen S., Kherallah, Bassil, McLean, Melissa, Prange, Lyndsey, De Grandis, Elisa, Gagliardi, Alessandra, Pisciotta, Livia, Stagnaro, Michela, Veneselli, Edvige, Campistol, Jaume, Fons, Carmen, Pias-Peleteiro, Leticia, Brashear, Allison, Miller, Charlotte, Samões, Raquel, Brankovic, Vesna, Padiath, Quasar S., Potic, Ana, Pilch, Jacek, Vezyroglou, Aikaterini, Bye, Ann M.E., Davis, Andrew M., Ryan, Monique M., Semsarian, Christopher, Hollingsworth, Georgina, Scheffer, Ingrid E., Granata, Tiziana, Nardocci, Nardo, Ragona, Francesca, Arzimanoglou, Alexis, Panagiotakaki, Eleni, Carrilho, Inês, Zucca, Claudio, Novy, Jan, Dzieżyc, Karolina, Parowicz, Marek, Mazurkiewicz-Bełdzińska, Maria, Weckhuysen, Sarah, Pons, Roser, Groppa, Sergiu, Sinden, Daniel S., Pitt, Geoffrey S., Tinker, Andrew, Ashworth, Michael, Michalak, Zuzanna, Thom, Maria, Cross, J. Helen, Vavassori, Rosaria, Kaski, Juan P., Sisodiya, Sanjay M.
Publicado 2020

A tentative classification of galaxies with active nuclei

por Véron, P
Publicado 1979