Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III von Thiffault, Isabelle, Wolf, Nicole I., Forget, Diane, Guerrero, Kether, Tran, Luan T., Choquet, Karine, Lavallée-Adam, Mathieu, Poitras, Christian, Brais, Bernard, Yoon, Grace, Sztriha, Laszlo, Webster, Richard I., Timmann, Dagmar, van de Warrenburg, Bart P., Seeger, Jürgen, Zimmermann, Alíz, Máté, Adrienn, Goizet, Cyril, Fung, Eva, van der Knaap, Marjo S., Fribourg, Sébastien, Vanderver, Adeline, Simons, Cas, Taft, Ryan J., Yates III, John R., Coulombe, Benoit, Bernard, Geneviève

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Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1 von Kalmár, Tibor, Maróti, Zoltán, Zimmermann, Alíz, Sztriha, László

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Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability von Zombor, Melinda, Kalmár, Tibor, Maróti, Zoltán, Zimmermann, Alíz, Máté, Adrienn, Bereczki, Csaba, Sztriha, László

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A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder von Nagy, Nikoletta, Pál, Margit, Nagy, Dóra, Bokor, Barbara Anna, Zimmermann, Aliz, Gellén, Balázs, Salamon, András, Sztriha, László, Klivényi, Péter, Széll, Márta

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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome von Romani, Marta, Micalizzi, Alessia, Kraoua, Ichraf, Dotti, Maria Teresa, Cavallin, Mara, Sztriha, László, Ruta, Rosario, Mancini, Francesca, Mazza, Tommaso, Castellana, Stefano, Hanene, Benrhouma, Carluccio, Maria Alessandra, Darra, Francesca, Máté, Adrienn, Zimmermann, Alíz, Gouider-Khouja, Neziha, Valente, Enza Maria

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Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature von Nagy, Dóra, Farkas, Katalin, Armengol, Lluís, Segura, Maria, Esi Zodanu, Gloria Kafui, Csányi, Bernadett, Zimmermann, Alíz, Vámos, Barbara, Széll, Márta

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A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia von Kalmár, Tibor, Szakszon, Katalin, Maróti, Zoltán, Zimmermann, Alíz, Máté, Adrienn, Zombor, Melinda, Bereczki, Csaba, Sztriha, László

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Spectrum of Neurodevelopmental Disabilities: A Cohort Study in Hungary von Gergev, Gyurgyinka, Máté, Adrienn, Zimmermann, Alíz, Rárosi, Ferenc, Sztriha, László

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The clinical manifestations of two novel SPAST mutations von Zádori, Dénes, Máté, Adrienn, Róna-Vörös, Krisztina, Gergev, Gyurgyinka, Zimmermann, Alíz, Nagy, Nikoletta, Széll, Márta, Vécsei, László, Sztriha, László, Klivényi, Péter

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Cerebroprotective effects of the CO-releasing molecule CORM-A1 against seizure-induced neonatal vascular injury von Zimmermann, Aliz, Leffler, Charles W, Tcheranova, Dilyara, Fedinec, Alexander L, Parfenova, Helena

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Hydrogen is neuroprotective and preserves cerebrovascular reactivity in asphyxiated newborn pigs von Domoki, Ferenc, Oláh, Orsolya, Zimmermann, Aliz, Németh, István, Tóth-Szűki, Valéria, Hugyecz, Marietta, Temesvári, Péter, Bari, Ferenc

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Comparison of hypercapnia‐ and acetazolamide‐induced cerebrovascular responses in piglets von Domoki, Ferenc, Zimmermann, Alíz, Busija, David W, Bari, Ferenc

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Secretory phospholipase A 2 inhibitor PX-18 preserves microvascular reactivity after cerebral ischemia in piglets von Domoki, Ferenc, Zimmermann, Alíz, Lenti, Laura, Tóth-Szűki, Valéria, Pardeike, Jana, Müller, Rainer H., Bari, Ferenc

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Secretory phospholipase A2 inhibitor PX-18 preserves microvascular reactivity after cerebral ischemia in piglets von Domoki, Ferenc, Zimmermann, Alíz, Lenti, Laura, Tóth-Szuki, Valéria, Pardeike, Jana, Müller, Rainer H, Bari, Ferenc

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Additional file 2 of A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder von Nagy, Nikoletta, Pál, Margit, Nagy, Dóra, Bokor, Barbara Anna, Zimmermann, Aliz, Gellén, Balázs, Salamon, András, Sztriha, László, Klivényi, Péter, Széll, Márta

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Epileptic seizures increase circulating endothelial cells in peripheral blood as early indicators of cerebral vascular damage von Parfenova, Helena, Leffler, Charles W, Tcheranova, Dilyara, Basuroy, Shyamali, Zimmermann, Aliz

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Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1 von Kalmár, Tibor, Maróti, Zoltán, Zimmermann, Alíz, Sztriha, László

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Hydrogen is Neuroprotective and Preserves Cerebrovascular Reactivity in Asphyxiated Newborn Pigs von Domoki, Ferenc, Oláh, Orsolya, Zimmermann, Aliz, Németh, István, Tóth-Szűki, Valéria, Hugyecz, Marietta, Temesvári, Péter, Bari, Ferenc

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Seizure-Induced Alterations in Cerebrovascular Function in the Neonate von Zimmermann, Aliz, Domoki, Ferenc, Bari, Ferenc

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A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia von Kalmár, Tibor, Szakszon, Katalin, Maróti, Zoltán, Zimmermann, Alíz, Máté, Adrienn, Zombor, Melinda, Bereczki, Csaba, Sztriha, László

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