Szerző: " Zimmermann Aliz"

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)