Zobrazeno 1 - 10
of 81
pro vyhledávání: '"András Salamon"'
Autor:
Nikoletta Nagy, Margit Pál, Dóra Nagy, Barbara Anna Bokor, Aliz Zimmermann, Balázs Gellén, András Salamon, László Sztriha, Péter Klivényi, Márta Széll
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Purpose We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed global developmental delay, cognitive impairment, behavioral problems, shor
Externí odkaz:
https://doaj.org/article/2fa6a6030cb549df98fe6b6d34be0b54
Publikováno v:
Gyermekgyógyászat; 2024, Vol. 75 Issue 4, p242-244, 3p
Autor:
András Salamon, Zsófia Flóra Nagy, Margit Pál, Máté Szabó, Ádám Csősz, László Szpisjak, Gabriella Gárdián, Dénes Zádori, Márta Széll, Péter Klivényi
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 13, p 10745 (2023)
Dystonia is a rare movement disorder which is characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements, postures, or both. The two most common forms of adult-onset focal dystonia are cervical dyst
Externí odkaz:
https://doaj.org/article/f1360e3d86b747e69da2e0de596fc67e
Autor:
Fanni Annamária Boros, László Szpisjak, Renáta Bozó, Evelyn Kelemen, Dénes Zádori, András Salamon, Judit Danis, Tibor Kalmár, Zoltán Maróti, Mária Judit Molnár, Péter Klivényi, Márta Széll, Éva Ádám
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 2617 (2023)
Spinocerebellar ataxia (SCA) 40 is an extremely rare subtype of the phenotypically and genetically diverse autosomal dominant ataxias caused by mutations of the CCDC88C gene. Most reported cases of SCA40 are characterized by late-onset cerebellar ata
Externí odkaz:
https://doaj.org/article/ecbd44b5778e4e0581cb4815948338e9
Autor:
László Szpisjak, András Salamon, Viola L. Németh, Noémi Szépfalusi, Zoltán Maróti, Tibor Kalmár, Aliz Zimmermann, Dénes Zádori, Péter Klivényi
Publikováno v:
Ideggyógyászati szemle. 76:63-72
Spinocerebellar ataxia type 48 (SCA48) is an autosomal dominantly inherited disease characterized by gait and limb ataxia, cerebellar dysarthria, cognitive impairment, psychiatric abnormalities and variable types of movement disorders. To date, more
Autor:
Máté Szabó, Dániel Do Kiem, Gabriella Gárdián, László Szpisjak, András Salamon, Péter Klivényi, Dénes Zádori
Publikováno v:
Ideggyógyászati szemle. 76:37-45
Background and purpose – Cervical dystonia (CD) is the most common form of focal dystonias, where the identification of the involved muscles, the determination of optimal botulinum neurotoxin A (BoNT-A) dose per muscle injection, and precise target
Publikováno v:
Expert Opinion on Therapeutic Targets. 26:827-836
Parkinson's disease (PD) is the second most common neurodegenerative disease worldwide. The median age of disease onset is around 60 years. From a genetic point of view, PD is basically considered a sporadic, idiopathic disease, however, hereditary c
Publikováno v:
Expert opinion on pharmacotherapy. 23(10)
Autor:
Péter Klivényi, Tibor Kalmár, András Salamon, Zoltán Maróti, László Szpisjak, Dénes Zádori, István Lénárt, Patrick Deegan, Charlotte M. H. Brierley
Publikováno v:
Ideggyógyászati szemle. 74:425-429
Background and purpose Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both
Autor:
Adrienn Tömösvári, András Salamon, Lívia Dézsi, László Vécsei, Péter Klivényi, Cecilia Rajda, Tibor Hortobágyi, Bence Radics, Edina Timea Varga
Publikováno v:
Ideggyógyászati szemle. 73:141-144
CANOMAD (chronic ataxic neuropathy, ophthalmoplegia, M-protein agglutination, disialosyl antibodies) syndrome is a rare polyneuropathy. IgM paraproteins react with ganglioside-containing disialylated epitopes resulting in dorsal root ganglionopathy a