Szerző: " Sztriha László"

Nagy Nikoletta; Pál Margit; Nagy Dóra; Bokor Barbara Anna; Zimmermann Aliz; Gellén Balázs; Salamon András; Sztriha László; Klivényi Péter; Széll Márta: A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
BMC PEDIATRICS, 24 (1). ISSN 1471-2431 (2024)

Annus Ádám; Gera Franciska Zita; Sztriha László; Klivényi Péter: DWI-FLAIR mismatch guided thrombolysis in patients without large-vessel occlusion: real-world data from a comprehensive stroke centre.
HELIYON, 8 (12). ISSN 2405-8440 (2022)

Annus Ádám; Tömösi Ferenc; Rárosi Ferenc; Fehér Evelin; Janáky Tamás; Kecskeméti Gábor; Toldi József; Klivényi Péter; Sztriha László; Vécsei László: Kynurenic acid and kynurenine aminotransferase are potential biomarkers of early neurological improvement after thrombolytic therapy : A pilot study.
ADVANCES IN CLINICAL AND EXPERIMENTAL MEDICINE, 30 (12). Terjedelem: 8 p-Azonosító: 141646. ISSN 1899-5276 (2021)

Kalmár Tibor; Szakszon Katalin; Maróti Zoltán; Zimmermann Aliz; Máté Adrienn; Zombor Melinda; Bereczki Csaba; Sztriha László: A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.
JOURNAL OF PEDIATRIC GENETICS, 10 (2). pp. 159-163. ISSN 2146-4596 (2021)

Kalmár Tibor; Maróti Zoltán; Zimmermann Aliz; Sztriha László: Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
BRAIN & DEVELOPMENT, 43 (1). pp. 144-151. ISSN 0387-7604 (2020)

Zombor Melinda; Kalmár Tibor; Nagy Nikoletta; Berényi Marianne; Telcs Borbála; Maróti Zoltán; Brandau Oliver; Sztriha László: A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
JOURNAL OF APPLIED GENETICS, 60 (2). pp. 151-162. ISSN 1234-1983 (2019)

Zombor Melinda; Kalmár Tibor; Maróti Zoltán; Zimmermann Aliz; Máté Adrienn; Bereczki Csaba; Sztriha László: Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.
JOURNAL OF HUMAN GENETICS, 63 (11). pp. 1189-1193. ISSN 1434-5161 (2018)

Alcantara Diana; Timms Andrew E.; Gripp Karen; Baker Laura; Park Kaylee; Sztriha László; Zombor Melinda; Caluseriu Oana; Mesterman Ronit; Van Allen Margot I.; Jacquinet Adeline; Ygberg Sofia; Bernstein Jonathan A.; Wenger Aaron M.; Guturu Harendra: Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
BRAIN, 140 (10). pp. 2610-2622. ISSN 0006-8950 (2017)

Carter Jennifer; Zombor Melinda; Máté Adrienn; Sztriha László; Waters Jonathan J.: De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.
CASE REPORTS IN GENETICS, 2016. Azonosító: 2501741-Terjedelem: 3. p.. ISSN 2090-6544 (2016)

Kodani Andrew; Yu Timothy W.; Johnson Jeffrey R.; Jayaraman Divya; Johnson Tasha L.; Al-Gazali Lihadh; Sztriha László; Partlow Jennifer N.; Kim Hanjun; Krup Alexis L.; Dammermann Alexander; Krogan Nevan J.; Walsh Christopher A.; Reiter Jeremy F.: Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.
ELIFE, 4. Terjedelem: 27 p.-Azonosító: e07519. ISSN 2050-084X (2015)

Alby Caroline; Piquand Kevin; Huber Céline; Megarbané André; Ichkou Amale; Legendre Marine; Pelluard Fanny; Encha-Ravazi Ferechté; Abi-Tayeh Georges; Bessiéres Bettina; El Chehadeh-Djebbar Salima; Laurent Nicole; Faivre Laurence; Sztriha László; Zombor Melinda; Szabó Hajnalka; et al.: Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome.
AMERICAN JOURNAL OF HUMAN GENETICS, 97 (2). pp. 311-318. ISSN 0002-9297 (2015)

Gajda Anna; Ferdinandyné Horváth Emese; Hortobágyi Tibor; Gergev Gyurgyinka; Szabó Hajnalka; Farkas Katalin; Nagy Nikoletta; Széll Márta; Sztriha László: Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the Nebulin (NEB) Gene.
Journal of Child Neurology, 30 (5). pp. 627-630. ISSN 0883-0738 (2015)

Thiffault Isabelle; Wolf Nicole I.; Forget Diane; Sztriha László; Zimmermann Aliz; Máté Adrienn; Goizet Cyril; Fung Eva; Fribourg Sébastien; Vanderver Adeline; Simons Cas; Taft Ryan J.; Yates John R.; Coulombe Benoit; Bernard Genèvive: Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
NATURE COMMUNICATIONS, 6. Terjedelem: 9 p. -Azonosító: 7623. ISSN 2041-1723 (2015)

Gergev Gyurgyinka; Máté Adrienn; Zimmermann Aliz; Rárosi Ferenc; Sztriha László: Spectrum of neurodevelopmental disabilities: a cohort study in Hungary.
JOURNAL OF CHILD NEUROLOGY, 30 (3). pp. 344-356. ISSN 0883-0738 (2015)

Zádori Dénes; Máté Adrienn; Róna-Vörös Krisztina; Gergev Gyurgyinka; Zimmermann Aliz; Nagy Nikoletta; Széll Márta; Vécsei László; Sztriha László; Klivényi Péter: The clinical manifestations of two novel SPAST mutations.
CLINICAL NEUROLOGY AND NEUROSURGERY, 136. pp. 82-85. ISSN 0303-8467 (2015)

Ferdinandyné Horváth Emese; Horváth Zsuzsanna; Isaszegi Dóra; Gergev Gyurgyinka; Nagy Nikoletta; Szabó János; Sztriha László; Széll Márta; Endreffy Emőke: Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.
Molecular Cytogenetics, 6 (1). Azonosító: 35-Terjedelem: 5 p.. ISSN 1755-8166 (2013)

Szabó Nóra; Gergev Gyurgyinka; Kóbor Jenő Dezső; Bereg Edit; Túri Sándor; Sztriha László: Corpus Callosum Anomalies: Birth Prevalence and Clinical Spectrum in Hungary.
Pediatric Neurology, 44 (6). pp. 420-426. ISSN 0887-8994 (2011)

Szabó Nóra; Gergev Gyurgyinka; Kóbor Jenő Dezső; Szűcs Péter; Túri Sándor; Sztriha László: Holoprosencephaly in Hungary: Birth Prevalence and Clinical Spectrum.
Journal of Child Neurology, 26 (8). pp. 1029-1032. ISSN 0883-0738 (2011)