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656 results

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Page 1
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brösse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y, Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H, Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S, Matsumoto N. Itai T, et al. Among authors: ries m. Hum Mutat. 2021 Jan;42(1):66-76. doi: 10.1002/humu.24130. Epub 2020 Nov 10. Hum Mutat. 2021. PMID: 33131106
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.
Saffari A, Schröter J, Garbade SF, Alecu JE, Ebrahimi-Fakhari D, Hoffmann GF, Kölker S, Ries M, Syrbe S. Saffari A, et al. Among authors: ries m. Autophagy. 2022 Jul;18(7):1715-1727. doi: 10.1080/15548627.2021.1990671. Epub 2021 Nov 24. Autophagy. 2022. PMID: 34818117 Free PMC article.
Neurological manifestation of Fabry disease in females.
Wendrich K, Whybra C, Ries M, Gal A, Beck M. Wendrich K, et al. Among authors: ries m. Contrib Nephrol. 2001;(136):241-4. doi: 10.1159/000060195. Contrib Nephrol. 2001. PMID: 11688387 No abstract available.
Clinical manifestation in female Fabry disease patients.
Whybra C, Wendrich K, Ries M, Gal A, Beck M. Whybra C, et al. Among authors: ries m. Contrib Nephrol. 2001;(136):245-50. doi: 10.1159/000060196. Contrib Nephrol. 2001. PMID: 11688388 No abstract available.
Anderson-Fabry disease in children and adolescents.
Beck M, Whybra C, Wendrich K, Gal A, Ries M. Beck M, et al. Among authors: ries m. Contrib Nephrol. 2001;(136):251-5. doi: 10.1159/000060197. Contrib Nephrol. 2001. PMID: 11688389 No abstract available.
Cardiac involvement in Anderson-Fabry disease.
Kampmann C, Baehner F, Ries M, Beck M. Kampmann C, et al. Among authors: ries m. J Am Soc Nephrol. 2002 Jun;13 Suppl 2:S147-9. J Am Soc Nephrol. 2002. PMID: 12068028 Review. No abstract available.
656 results