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2020 1
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Page 1
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A. Thiel M, et al. Among authors: matzker e. J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):806-815. doi: 10.1136/jnnp-2022-330261. Epub 2023 May 24. J Neurol Neurosurg Psychiatry. 2023. PMID: 37225406
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: matzker e. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. Am J Hum Genet. 2023. PMID: 36528028 Free PMC article.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: matzker e. Am J Hum Genet. 2023 Mar 2;110(3):548. doi: 10.1016/j.ajhg.2023.02.010. Am J Hum Genet. 2023. PMID: 36868207 Free PMC article. No abstract available.
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Döring JH, Saffari A, Bast T, Brockmann K, Ehrhardt L, Fazeli W, Janzarik WG, Kluger G, Muhle H, Møller RS, Platzer K, Santos JL, Bache I, Bertsche A, Bonfert M, Borggräfe I, Broser PJ, Datta AN, Hammer TB, Hartmann H, Hasse-Wittmer A, Henneke M, Kühne H, Lemke JR, Maier O, Matzker E, Merkenschlager A, Opp J, Patzer S, Rostasy K, Stark B, Strzelczyk A, von Stülpnagel C, Weber Y, Wolff M, Zirn B, Hoffmann GF, Kölker S, Syrbe S. Döring JH, et al. Among authors: matzker e. Biomedicines. 2020 Oct 28;8(11):456. doi: 10.3390/biomedicines8110456. Biomedicines. 2020. PMID: 33126500 Free PMC article.