Zobrazeno 1 - 10
of 298
pro vyhledávání: '"Wolfram S, Kunz"'
Autor:
Souvik Kar, Andrea Perrelli, Kiran Kumar Bali, Raffaella Mastrocola, Arpita Kar, Bushra Khan, Luis Gand, Arnab Nayak, Christian Hartmann, Wolfram S. Kunz, Amir Samii, Helmut Bertalanffy, Saverio Francesco Retta
Publikováno v:
Genes and Diseases, Vol 11, Iss 1, Pp 67-71 (2024)
Externí odkaz:
https://doaj.org/article/d5a5d321e8754df29f209c42b4a992c6
Autor:
Victor Shamanskiy, Alina A. Mikhailova, Evgenii O. Tretiakov, Kristina Ushakova, Alina G. Mikhailova, Sergei Oreshkov, Dmitry A. Knorre, Natalia Ree, Jonathan B. Overdevest, Samuel W. Lukowski, Irina Gostimskaya, Valerian Yurov, Chia-Wei Liou, Tsu-Kung Lin, Wolfram S. Kunz, Alexandre Reymond, Ilya Mazunin, Georgii A. Bazykin, Jacques Fellay, Masashi Tanaka, Konstantin Khrapko, Konstantin Gunbin, Konstantin Popadin
Publikováno v:
BMC Biology, Vol 21, Iss 1, Pp 1-13 (2023)
Abstract Background Aging in postmitotic tissues is associated with clonal expansion of somatic mitochondrial deletions, the origin of which is not well understood. Such deletions are often flanked by direct nucleotide repeats, but this alone does no
Externí odkaz:
https://doaj.org/article/4165b20a8937424aafa2ba2a950a3360
Autor:
Isabelle Boothman, Lisa M. Clayton, Mark McCormack, Alexandra McKibben Driscoll, Remi Stevelink, Patrick Moloney, Roland Krause, Wolfram S. Kunz, Sarah Diehl, Terence J. O’Brien, Graeme J. Sills, Gerrit-Jan de Haan, Federico Zara, Bobby P. Koeleman, Chantal Depondt, Anthony G. Marson, Hreinn Stefansson, Kari Stefansson, John Craig, Michael R. Johnson, Pasquale Striano, Holger Lerche, Simon J. Furney, Norman Delanty, Consortium EpiPGX, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Joseph Willis, Mojgansadat Borghei, Simona Donatello, Martin J. Brodie, Pauls Auce, Andrea Jorgensen, Sarah R. Langley, Yvonne Weber, Christian Hengsbach, Martin Krenn, Fritz Zimprich, Ekaterina Pataraia, Karl Martin Klein, Hiltrud Muhle, Rikke S. Møller, Marina Nikanorova, Stefan Wolking, Ellen Campbell, Antonella Riva, Marcello Scala
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
BackgroundThe anti-seizure medication vigabatrin (VGB) is effective for controlling seizures, especially infantile spasms. However, use is limited by VGB-associated visual field loss (VAVFL). The mechanisms by which VGB causes VAVFL remains unknown.
Externí odkaz:
https://doaj.org/article/9ba7aecc0196466792d32bdb7c7d0945
Autor:
Stefan Wolking, Claudia Moreau, Mark McCormack, Roland Krause, Martin Krenn, EpiPGx Consortium, Samuel Berkovic, Gianpiero L. Cavalleri, Norman Delanty, Chantal Depondt, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Slave Petrovski, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Fritz Zimprich, Sanjay M. Sisodiya, Simon L. Girard, Patrick Cossette
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1376-1387 (2021)
Abstract Objective Resistance to antiseizure medications (ASMs) is one of the major concerns in the treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of individuals with drug‐resistant epilepsy remains unchanged
Externí odkaz:
https://doaj.org/article/483d5fc6a76a46ce8fb02fcec7fc8db0
Autor:
Genevieve Trombly, Afaf Milad Said, Alexei P. Kudin, Viktoriya Peeva, Janine Altmüller, Kerstin Becker, Karl Köhrer, Gábor Zsurka, Wolfram S. Kunz
Publikováno v:
Antioxidants, Vol 12, Iss 5, p 1087 (2023)
Mitochondrial DNA (mtDNA) is particularly vulnerable to somatic mutagenesis. Potential mechanisms include DNA polymerase γ (POLG) errors and the effects of mutagens, such as reactive oxygen species. Here, we studied the effects of transient hydrogen
Externí odkaz:
https://doaj.org/article/3327a0df787d4a85b1cbf5b2365550ed
Autor:
Gábor Zsurka, Maximilian L. T. Appel, Maximilian Nastaly, Kerstin Hallmann, Niels Hansen, Daniel Nass, Tobias Baumgartner, Rainer Surges, Gunther Hartmann, Eva Bartok, Wolfram S. Kunz
Publikováno v:
Cells, Vol 12, Iss 2, p 227 (2023)
Epilepsy and mental retardation are known to be associated with pathogenic mutations in a broad range of genes that are expressed in the brain and have a role in neurodevelopment. Here, we report on a family with three affected individuals whose clin
Externí odkaz:
https://doaj.org/article/e1a5d280b4af451aa6c445979dd7f621
Autor:
Sinéad B. Heavin, Mark McCormack, Stefan Wolking, Lisa Slattery, Nicole Walley, Andreja Avbersek, Jan Novy, Saurabh R. Sinha, Rod Radtke, Colin Doherty, Pauls Auce, John Craig, Michael R. Johnson, Bobby P. C. Koeleman, Roland Krause, Wolfram S. Kunz, Anthony G. Marson, Terence J. O'Brien, Josemir W. Sander, Graeme J. Sills, Hreinn Stefansson, Pasquale Striano, Federico Zara, EPIGEN Consortium, EpiPGX Consortium, Chantal Depondt, Sanjay Sisodiya, David Goldstein, Holger Lerche, Gianpiero L. Cavalleri, Norman Delanty
Publikováno v:
Epilepsia Open, Vol 4, Iss 4, Pp 563-571 (2019)
Abstract Objective Clinical and genetic predictors of response to antiepileptic drugs (AEDs) are largely unknown. We examined predictors of lacosamide response in a real‐world clinical setting. Methods We tested the association of clinical predicto
Externí odkaz:
https://doaj.org/article/7ae7a2327ac4494c96ca814b3ce3c63f
Autor:
David Brenner, Tobias Baumgartner, Sarah von Spiczak, Jan Lewerenz, Roger Weis, Anja Grimmer, Petra Gaspirova, Claudia D. Wurster, Wolfram S. Kunz, Jan Wagner, Berge A. Minassian, Christian E. Elger, Albert C. Ludolph, Saskia Biskup, Dennis Döcker
Publikováno v:
Neurological Research and Practice, Vol 1, Iss 1, Pp 1-5 (2019)
Abstract Background Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in EPM2A (Laforin) or EPM2B (NHLRC1; Malin). The epidemiology of Lafora disea
Externí odkaz:
https://doaj.org/article/4f6ec7852bd74e34a4d76730e72b3719
Autor:
Stefan Wolking, Ciarán Campbell, Caragh Stapleton, Mark McCormack, Norman Delanty, Chantal Depondt, Michael R. Johnson, Bobby P. C. Koeleman, Roland Krause, Wolfram S. Kunz, Anthony G. Marson, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Holger Lerche, EpiPGX Consortium
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Objective: Resistance to anti-seizure medications (ASMs) presents a significant hurdle in the treatment of people with epilepsy. Genetic markers for resistance to individual ASMs could support clinicians to make better-informed choices for their pati
Externí odkaz:
https://doaj.org/article/78987acf68884737b5ff6ca6d0770371
Autor:
Katri Silvennoinen, Nikola deLange, Sara Zagaglia, Simona Balestrini, Ganna Androsova, Merel Wassenaar, Pauls Auce, Andreja Avbersek, Felicitas Becker, Bianca Berghuis, Ellen Campbell, Antonietta Coppola, Ben Francis, Stefan Wolking, Gianpiero L. Cavalleri, John Craig, Norman Delanty, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Job van derPalen, Roland Krause, Chantal Depondt, Sanjay M. Sisodiya, the EpiPGX Consortium
Publikováno v:
Epilepsia Open, Vol 4, Iss 3, Pp 420-430 (2019)
Abstract Objective To study the effectiveness and tolerability of antiepileptic drugs (AEDs) commonly used in juvenile myoclonic epilepsy (JME). Methods People with JME were identified from a large database of individuals with epilepsy, which include
Externí odkaz:
https://doaj.org/article/7e0bae26f0854a818290ffd6aefbb5da