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Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.
Proepper CR, Schuetz SM, Schwarz LM, Au KV, Bast T, Beaud N, Borggraefe I, Bosch F, Budde J, Busse M, Chung J, Debus O, Diepold K, Fries T, Gersdorff GV, Haeussler M, Hahn A, Hartlieb T, Heiming R, Herkenrath P, Kluger G, Kreth JH, Kurlemann G, Moeller P, Morris-Rosendahl DJ, Panzer A, Philippi H, Ruegner S, Toepfer C, Vieker S, Wiemer-Kruel A, Winter A, Schuierer G, Hehr U, Geis T. Proepper CR, et al. Among authors: herkenrath p. Neuropediatrics. 2024 Dec;55(6):410-419. doi: 10.1055/s-0044-1789014. Epub 2024 Aug 30. Neuropediatrics. 2024. PMID: 39214127
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.
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.
Nakamura Y, Shimada IS, Maroofian R, Falabella M, Zaki MS, Fujimoto M, Sato E, Takase H, Aoki S, Miyauchi A, Koshimizu E, Miyatake S, Arioka Y, Honda M, Higashi T, Miya F, Okubo Y, Ogawa I, Scardamaglia A, Miryounesi M, Alijanpour S, Ahmadabadi F, Herkenrath P, Dafsari HS, Velmans C, Al Balwi M, Vitobello A, Denommé-Pichon AS, Jeanne M, Civit A, Abdel-Hamid MS, Naderi H, Darvish H, Bakhtiari S, Kruer MC, Carroll CJ, Ghayoor Karimiani E, Khailany RA, Abdulqadir TA, Ozaslan M, Bauer P, Zifarelli G, Seifi T, Zamani M, Al Alam C, Alvi JR, Sultan T, Efthymiou S, Pope SAS, Haginoya K, Matsunaga T, Osaka H, Matsumoto N, Ozaki N, Ohkawa Y, Oki S, Tsunoda T, Pitceathly RDS, Taketomi Y, Houlden H, Murakami M, Kato Y, Saitoh S. Nakamura Y, et al. Among authors: herkenrath p. Brain. 2024 Nov 4;147(11):3949-3967. doi: 10.1093/brain/awae185. Brain. 2024. PMID: 39082157 Free PMC article.
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.
43 results