Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Peter Klivenyi"'
Autor:
Katalin Despotov, Péter Klivényi, István Nagy, Attila Pálvölgyi, László Vécsei, Cecília Rajda
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-7 (2022)
Abstract Background Wilson’s disease is a hereditary disorder of copper metabolism resulting mainly in hepatic, neurological, and psychiatric symptoms. Multiple sclerosis (MS) is an immune-mediated demyelinating disease affecting the central nervou
Externí odkaz:
https://doaj.org/article/c265053c1be748be92e52074433f6d49
Autor:
Dénes Zádori, Levente Szalárdy, Zita Reisz, Gabor G. Kovacs, Rita Maszlag-Török, Norbert F. Ajeawung, László Vécsei, Philippe M. Campeau, Péter Klivényi
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
DOORS [deafness, onychodystrophy, osteodystrophy, intellectual disability (mental retardation), and seizures] syndrome can be caused by mutations in the TBC1D24 and ATP6V1B2 genes, both of which are involved in endolysosomal function. Because of its
Externí odkaz:
https://doaj.org/article/7b785ee874fb4193829dad1fa02825bd
Autor:
Tamás Biernacki, Dániel Sandi, Zsanett Fricska‐Nagy, Zsigmond Tamás Kincses, Judit Füvesi, Rózsa Laczkó, Zsófia Kokas, Péter Klivényi, László Vécsei, Krisztina Bencsik
Publikováno v:
Brain and Behavior, Vol 10, Iss 5, Pp n/a-n/a (2020)
Abstract Objectives Not so long ago, a novel phenotypic classification of multiple sclerosis (MS) and revisions to the McDonald diagnostic criteria were published. Good quality, standardized, and therefore comparable epidemiological data from the Cen
Externí odkaz:
https://doaj.org/article/8b2bcd1a7afd4bc29d977d17ab200590
Autor:
Kornélia Tripolszki, Judit Danis, Aditya K. Padhi, James Gomes, Renáta Bozó, Zsófia F. Nagy, Dóra Nagy, Péter Klivényi, József I. Engelhardt, Márta Széll
Publikováno v:
Brain and Behavior, Vol 9, Iss 6, Pp n/a-n/a (2019)
Abstract Introduction Mutations in the angiogenin (ANG) gene are known to be associated with both familial and sporadic amyotrophic lateral sclerosis (ALS). The majority of disease‐causing mutations of ANG result in loss of either ribonucleolytic a
Externí odkaz:
https://doaj.org/article/63843e9b7a1a41d9aa57cddebaf96b4a
Autor:
Eva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad-Annuar, Bashayer Al-Mubarak, Roy N Alcalay, Victoria Alvarez, Ignacio Amorin, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A Barker, Melinda Barkhuizen, A Nazli Basak, Vincenzo Bonifati, Agnita Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimon, Mario Cornejo-Olivas, Leonor Correia Guedes, Jean-Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patricia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez-Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycal Hentati, Dorota Hoffman-Zacharska, Sergey N Illarioshkin, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke Kievit, Peter Klivenyi, Vladimir Kostic, Dariusz Koziorowski, Andrea A Kühn, Anthony E Lang, Shen-Yang Lim, Chin-Hsien Lin, Katja Lohmann, Vladana Markovic, Mika Henrik Martikainen, George Mellick, Marcelo Merello, Lukasz Milanowski, Pablo Mir, Özgür Öztop-Çakmak, Márcia Mattos Gonçalves Pimentel, Teeratorn Pulkes, Andreas Puschmann, Ekaterina Rogaeva, Esther M Sammler, Maria Skaalum Petersen, Matej Skorvanek, Mariana Spitz, Oksana Suchowersky, Ai Huey Tan, Pichet Termsarasab, Avner Thaler, Vitor Tumas, Enza Maria Valente, Bart van de Warrenburg, Caroline H Williams-Gray, Ruey-Mei Wu, Baorong Zhang, Alexander Zimprich, Justin Solle, Shalini Padmanabhan, Christine Klein
Publikováno v:
PLoS ONE, Vol 18, Iss 10, p e0292180 (2023)
Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genet
Externí odkaz:
https://doaj.org/article/58585cdc8b73494895f8856cace8556b
Publikováno v:
Brain and Spine, Vol 3, Iss , Pp 101905- (2023)
Externí odkaz:
https://doaj.org/article/8ffe6bb8d59a4585b596d2403a093866
Autor:
Balint Dancso, Pal Barzo, Peter Klivenyi, Denes Zadori, Laszlo Szpisjak, Adam Varga, Norbert Szappanos, David Kis
Publikováno v:
Brain and Spine, Vol 3, Iss , Pp 102287- (2023)
Externí odkaz:
https://doaj.org/article/075343e845f5422ab74633512f4bb1a3
Autor:
Laszlo Szpisjak, Gabor Szaraz, Andras Salamon, Viola L. Nemeth, Noemi Szepfalusi, Gabor Veres, Balint Kincses, Zoltan Maroti, Tibor Kalmar, Malgorzata Rydzanicz, Rafal Ploski, Peter Klivenyi, Denes Zadori
Publikováno v:
BMC Neuroscience, Vol 22, Iss 1, Pp 1-12 (2021)
Abstract Background SYNE1 ataxia is an autosomal recessive hereditary condition, the main characteristic features of which are gait and limb ataxia and cerebellar dysarthria. Reports have revealed that the clinical phenotype of SYNE1 ataxia is more c
Externí odkaz:
https://doaj.org/article/7219bee1626749fd9fb16ed95e835d5f
Autor:
Kristof Babarczy, Zita Reisz, Elza Szabo, Cecilia Rajda, Laszlo Vecsei, Istvan Bodi, Peter Klivenyi, Tibor Hortobagyi, Levente Szalardy
Publikováno v:
Folia Neuropathologica, Vol 58, Iss 4, Pp 377-385 (2021)
Diffuse midline gliomas, H3 K27M-mutant, World Health Organization (WHO) grade IV represent a distinct glioma entity with a predominantly paediatric presentation and remarkably poor prognosis. This report presents a case of a 73-year-old woman with a
Externí odkaz:
https://doaj.org/article/cbfbe9ae78b74c87b0be6ba9bb3ce3d3
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/d3ab125425d74bfab388c54807d70a47