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)
Szpisjak László; Salamon András; Németh Viola Luca; Szépfalusi Noémi; Maróti Zoltán; Kalmár Tibor; Zimmermann Aliz; Zádori Dénes; Klivényi Péter:
Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient.
IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE, 76 (1-2).
pp. 63-72.
ISSN 0019-1442
(2023)
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)
Nagy Dóra; Farkas Katali; Armengol Lluis; Segura Maria; Esi Zodanu Gloria Kafui; Csányi Bernadett; Zimmermann Aliz; Vámos Barbara; Széll Márta:
Further delineation of the phenotype of PAK3-associated x-linked intellectual disability : Identification of a novel missense mutation and review of literature.
EUROPEAN JOURNAL OF MEDICAL GENETICS, 63 (4).
Azonosító: 103800-Terjedelem: 5 p.
ISSN 1769-7212
(2020)
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; 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)
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)