Zobrazeno 1 - 10
of 310
pro vyhledávání: '"Dimitri M. Kullmann"'
Autor:
Steffan P. Jones, Nathanael O'Neill, Jenna C. Carpenter, Sharon Muggeo, Gaia Colasante, Dimitri M. Kullmann, Gabriele Lignani
Publikováno v:
Neurobiology of Disease, Vol 201, Iss , Pp 106688- (2024)
Dravet Syndrome (DS) is most often caused by heterozygous loss-of-function mutations in the voltage-gated sodium channel gene SCN1A (Nav1.1), resulting in severe epilepsy and neurodevelopmental impairment thought to be cause by reduced interneuron ex
Externí odkaz:
https://doaj.org/article/1ccb07d314b2457881d3f817618dbcda
Publikováno v:
Cells, Vol 12, Iss 10, p 1382 (2023)
Dominantly inherited missense mutations of the KCNA1 gene, which encodes the KV1.1 potassium channel subunit, cause Episodic Ataxia type 1 (EA1). Although the cerebellar incoordination is thought to arise from abnormal Purkinje cell output, the under
Externí odkaz:
https://doaj.org/article/acf6debb9ffe4877a37e882c3796453f
Autor:
Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental a
Externí odkaz:
https://doaj.org/article/67fdcf82e84544e095b6c7c81e0bd8ff
Publikováno v:
EBioMedicine, Vol 43, Iss , Pp 641-649 (2019)
Epilepsy remains refractory to medical treatment in ~30% of patients despite decades of new drug development. Neurosurgery to remove or disconnect the seizure focus is often curative but frequently contraindicated by risks of irreversible impairment
Externí odkaz:
https://doaj.org/article/9347f970124b4d338709324ab33d134a
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Previous studies have highlighted a paradoxical role of perisomatic-targeting parvalbumin-positive (PV+) interneurons in ictogenesis. Here, authors used an acute in vivo model of focal cortical seizures in awake behaving mice to show that photo-depol
Externí odkaz:
https://doaj.org/article/5e0876845b4641cc849597ff58d14784
Autor:
Jeremy Chataway, Tarek Yousry, Matthew Walker, Michael S Zandi, Michael P Lunn, Robin S Howard, Jennifer Spillane, Bernadette Monaghan, Kushan Karunaratne, Dariush Ahrabian, Tom Campion, Dimitri M Kullmann
Publikováno v:
BMJ Neurology Open, Vol 3, Iss 1 (2021)
Background Daclizumab is an anti-CD25 monoclonal antibody developed for the treatment of relapsing remitting multiple sclerosis, which was withdrawn worldwide in March 2018, due to emerging serious immune-mediated systemic andcentral nervous system a
Externí odkaz:
https://doaj.org/article/cae1e43691f543269152fed7144eba0a
Autor:
Gemma F. Codner, Joffrey Mianné, Adam Caulder, Jorik Loeffler, Rachel Fell, Ruairidh King, Alasdair J. Allan, Matthew Mackenzie, Fran J. Pike, Christopher V. McCabe, Skevoulla Christou, Sam Joynson, Marie Hutchison, Michelle E. Stewart, Saumya Kumar, Michelle M. Simon, Loranne Agius, Quentin M. Anstee, Kirill E. Volynski, Dimitri M. Kullmann, Sara Wells, Lydia Teboul
Publikováno v:
BMC Biology, Vol 16, Iss 1, Pp 1-16 (2018)
Abstract Background Recent advances in clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) genome editing have led to the use of long single-stranded DNA (lssDNA) molecules for generating conditional
Externí odkaz:
https://doaj.org/article/ee1cca96cdab4bc9a1b2e27269d0610a
Rhombencephalitis and Myeloradiculitis Caused by a European Subtype of Tick-Borne Encephalitis Virus
Autor:
Lorna Neill, Anna M. Checkley, Laura A. Benjamin, M. Trent Herdman, Daniel P. Carter, Steven T. Pullan, Emma Aarons, Katie Griffiths, Bernadette Monaghan, Kushan Karunaratne, Olga Ciccarelli, Jennifer Spillane, David A.J. Moore, Dimitri M. Kullmann
Publikováno v:
Emerging Infectious Diseases, Vol 25, Iss 12, Pp 2317-2319 (2019)
We report a case of a previously healthy man returning to the United Kingdom from Lithuania who developed rhombencephalitis and myeloradiculitis due to tick-borne encephalitis. These findings add to sparse data on tick-borne encephalitis virus phylog
Externí odkaz:
https://doaj.org/article/a4165d27752141099c22ae45e99c67f6
Autor:
Roman Praschberger, Simon A. Lowe, Nancy T. Malintan, Carlo N.G. Giachello, Nian Patel, Henry Houlden, Dimitri M. Kullmann, Richard A. Baines, Maria M. Usowicz, Shyam S. Krishnakumar, James J.L. Hodge, James E. Rothman, James E.C. Jepson
Publikováno v:
Cell Reports, Vol 21, Iss 1, Pp 97-109 (2017)
Mutations in the Golgi SNARE (SNAP [soluble NSF attachment protein] receptor) protein Membrin (encoded by the GOSR2 gene) cause progressive myoclonus epilepsy (PME). Membrin is a ubiquitous and essential protein mediating ER-to-Golgi membrane fusion.
Externí odkaz:
https://doaj.org/article/8d9b11dd09d141658c999a9be32e95ef
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Focal cortical seizures result from local and widespread propagation of excitatory activity. Here the authors employ widefield calcium imaging in mouse visual areas to demonstrate that these seizures start as local synchronous activation and then pro
Externí odkaz:
https://doaj.org/article/a33003a917694f8aa69ec3cd91b17aba