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Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V. D'Onofrio G, et al. Among authors: herkenrath p. Hum Genet. 2023 Jul;142(7):909-925. doi: 10.1007/s00439-023-02552-2. Epub 2023 May 14. Hum Genet. 2023. PMID: 37183190 Free PMC article. Review.
PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
Bamborschke D, Kreutzer M, Koy A, Koerber F, Lucas N, Huenseler C, Herkenrath P, Lee-Kirsch MA, Cirak S. Bamborschke D, et al. Among authors: herkenrath p. Brain Dev. 2021 Feb;43(2):320-324. doi: 10.1016/j.braindev.2020.10.005. Epub 2020 Nov 4. Brain Dev. 2021. PMID: 33158637
Novel mutations in SLC6A5 with benign course in hyperekplexia.
Dafsari HS, Kawalia A, Sprute R, Karakaya M, Malenica A, Herkenrath P, Nürnberg P, Motameny S, Thiele H, Cirak S. Dafsari HS, et al. Among authors: herkenrath p. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004465. doi: 10.1101/mcs.a004465. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31604777 Free PMC article.
41 results