tallózása szerző szerint "Herczegfalvi, Ágnes"

1-12 / 12

Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

Pyle A; Ramesh V; Bartsakoulia M; Boczonadi V; Gomez-Duran A; Herczegfalvi, Ágnes; Blakely EL; Smertenko T; Duff J; Moore D; Yu Wai Man P; Douroudis K; Santibanez-Koref M; Griffin H; Lochmüller H; Karcagi V; Taylor RW; Chinnery PF; Horváth, Hilda Rita (2014)
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

Koeks, Z; Bladen, CL; Salgado, D; van Zwet, E; Pogoryelova, O; McMacken, G; Monges, S; Foncuberta, M; Kekou, K; Kosma, K; Dawkins, H; Lamont, L; Bellgard, MI; Roy, AJ; Chamova, T; Guergueltcheva, V; Chan, S; Korngut, L; Campbell, C; Dai, Y; Wang, J; Barisic, N; Brabec, P; Lahdetie, J; Walter, MC; Schreiber-Katz, O; Karcagi, V; Garami, M; Herczegfalvi, Ágnes; Viswanathan, V; Bayat, F; Buccella, F; Ferlini, A; Kimura, E; van den Bergen, JC; Rodrigues, M; Roxburgh, R; Lusakowska, A; Kostera-Pruszczyk, A; Santos, R; Neagu, E; Artemieva, S; Rasic, VM; Vojinovic, D; Posada, M; Bloetzer, C; Klein, A; Diaz-Manera, J; Gallardo, E; Karaduman, AA; Oznur, T; Topaloglu, H; El, Sherif R; Stringer, A; Shatillo, AV; Martin, AS; Peay, HL; Kirschner, J; Flanigan, KM; Straub, V; Bushby, K; Beroud, C; Verschuuren, JJ; Lochmuller, H (2017)

BACKGROUND: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy ...
Duchenne-féle izomdisztrófiával élő betegek és gondozóik betegségterhei

Péntek, Márta; Herczegfalvi, Ágnes; Molnár, Mária Judit; Szőnyi, László Pál; Kosztolányi, György; Pfliegler, György; Melegh, Béla; Boncz, Imre; Brodszky, Valentin; Baji, Petra; Szegedi, Márta; Pogány, Gábor; Gulácsi, László (2016)
Dystrophim gene Analysis in Hungarian Duchenne/Becker muscular dystrophy families - Detection of carrier status in symptomatic and asymptomatic female relatives

Pikó, Henriett; Vancsó V; Nagy, Bálint; Bán, Zoltán; Herczegfalvi, Ágnes; Karcagi, Veronika (2009)

A comprehensive study of the Hungarian Duchenne/Becker muscular dystrophy (DMD/BMD) families is presented. Deletions in the hot spots regions were identified by multiplex PCR, whereas rare Mutations were detected by ...
Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy: Real world data from Hungarian patients

Szabó, Léna; Gergely, Anita; Jakus, Rita; Fogarasi, András; Grosz, Zoltán; Molnár, Mária Judit; Andor, Ildikó; Schulcz, Orsolya; Goschler, Ádám; Medveczky, Erika; Czövek, Dorottya; Herczegfalvi, Ágnes (2020)
European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

Vry J; Gramsch K; Rodger S; Thompson R; Steffensen BF; Rahbek J; Doerken S; Tassoni A; Beytia ML; Guergueltcheva V; Chamova T; Tournev I; Kostera-Pruszczyk A; Kaminska A; Lusakowska A; Mrazova L; Pavlovska L; Strenkova J; Vondracek P; Garami M; Karcagi V; Herczegfalvi, Ágnes; Bushby K; Lochmuller H; Kirschner J (2016)

BACKGROUND: Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone for DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and ...
Graves Disease Associated with Myasthenia Gravis: A Pediatric Case Report

Juhász, Orsolya; Garami, Miklós; Herczegfalvi, Ágnes; Sallai, Ágnes, (2021)
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases

McCormack P,; Woods S,; Aartsma-Rus A,; Hagger L,; Herczegfalvi, Ágnes (2013)

Drug trials in children engage with many ethical issues, from drug-related safety concerns to communication with patients and parents, and recruitment and informed consent procedures. This paper addresses the field of ...
Hordozóságszűrés Duchenne-/Becker- izomdystrophiával érintett családokban [Carrier detection in families affected by Duchenne/Becker muscular dystrophy]

Pikó, Henriett; Nagy, Bálint; Balog J; Bán, Zoltán; Herczegfalvi, Ágnes; Karcagi, Veronika (2007)

Duchenne/Becker muscular dystrophy is a severe, recessive, X-linked neuromuscular disease with an incidence of 1/3500 (Duchenne type) and 1/30,000 (Becker type) in newborn boys. The gene responsible for the Duchenne/Becker ...
Leigh-szindróma és Leigh-like szindróma – diagnosztikai megfontolások

Sinkó Gabriella; Herczegfalvi, Ágnes; Módi Judit; Garzuly Ferenc; Vadvári Árpád; Nagy Zsuzsa; Tolvaj Balázs; Oroszlán György; Kálmán Bernadette (2015)
Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Bladen CL; Thompson R; Jackson JM; Garland C; Wegel C; Schreiber O; Lusakowska A; Jedrzejowska M; Kostera-Pruszczyk A; van der Pol L; Wadman RI; Gredal O; Karaduman A; Topaloglu H; Yilmaz O; Matyushenko V; Rasic VM; Kosac A; Karcagi, Veronika; Garami M; Herczegfalvi, Ágnes; Monges S; Moresco A; Chertkoff L; Chamova T; Guergueltcheva V; Butoianu N; Craiu D; Korngut L; Campbell C; Haberlova J; Strenkova J; Alejandro M; Jimenez A; Ortiz GG; Enriquez GV; Rodrigues M; Roxburgh R; Dawkins H; Youngs L; Lahdetie J; Angelkova N; Saugier-Veber P; Cuisset JM; Bloetzer C; Jeannet PY; Klein A; Nascimento A; Tizzano E; Salgado D; Mercuri E; Sejersen T; Kirschner J; Rafferty K; Straub V; Bushby K; Verschuuren J; Beroud C; Lochmuller H (2014)

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron ...
Pompe-kór fenotípusvariációi, kórlefolyása és az enzimpótló kezelés eredményei: hazai tapasztalatok

Bereznai, Benjamin; Trauninger, Anita; György, Ilona; Szakszon, Katalin; Almássy, Zsuzsanna; Pál, Endre; Herczegfalvi, Ágnes; Várdi, Katalin; Illés, Zsolt László; Molnár, Mária Judit (2011)

1-12 / 12

Keresés

Összetett keresés

Tallózás

Teljes repozitórumban

Hozzáférésem

Bejelentkezés

tallózása szerző szerint "Herczegfalvi, Ágnes"

DSpace/Manakin Repository

tallózása szerző szerint "Herczegfalvi, Ágnes"

Keresés

Tallózás

Teljes repozitórumban

Hozzáférésem