Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 4
2012 2
2014 2
2015 5
2016 5
2017 5
2018 3
2019 4
2020 7
2021 14
2022 9
2023 7
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

59 results

Results by year

Filters applied: . Clear all
Page 1
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. Van de Vondel L, et al. Among authors: herzog r. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594 Free PMC article.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Complex dystonias: an update on diagnosis and care.
Herzog R, Weissbach A, Bäumer T, Münchau A. Herzog R, et al. J Neural Transm (Vienna). 2021 Apr;128(4):431-445. doi: 10.1007/s00702-020-02275-y. Epub 2020 Nov 13. J Neural Transm (Vienna). 2021. PMID: 33185802 Free PMC article. Review.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Monitoring Daily Ultrafiltration in Automated Peritoneal Dialysis.
Eibensteiner F, Flores KO, Unterwurzacher M, Herzog R, Kratochwill K, Alper SL, Aufricht C, König F, Vychytil A. Eibensteiner F, et al. Among authors: herzog r. Clin J Am Soc Nephrol. 2022 Jan;17(1):107-110. doi: 10.2215/CJN.08180621. Epub 2021 Dec 10. Clin J Am Soc Nephrol. 2022. PMID: 34893504 Free PMC article. No abstract available.
Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion.
Zrelski MM, Hösele S, Kustermann M, Fichtinger P, Kah D, Athanasiou I, Esser PR, Wagner A, Herzog R, Kratochwill K, Goldmann WH, Kiritsi D, Winter L. Zrelski MM, et al. Among authors: herzog r. J Invest Dermatol. 2024 Mar;144(3):547-562.e9. doi: 10.1016/j.jid.2023.08.020. Epub 2023 Sep 15. J Invest Dermatol. 2024. PMID: 37716646 Free article.
59 results