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

Text availability

Article attribute

Article type

Publication date

Search Results

63 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
European Reference Networks: challenges and opportunities.
Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N. Tumiene B, et al. Among authors: graessner h. J Community Genet. 2021 Apr;12(2):217-229. doi: 10.1007/s12687-021-00521-8. Epub 2021 Mar 17. J Community Genet. 2021. PMID: 33733400 Free PMC article.
Rare disease education in Europe and beyond: time to act.
Tumiene B, Peters H, Melegh B, Peterlin B, Utkus A, Fatkulina N, Pfliegler G, Graessner H, Hermanns S, Scarpa M, Blay JY, Ashton S, McKay L, Baynam G. Tumiene B, et al. Among authors: graessner h. Orphanet J Rare Dis. 2022 Dec 19;17(1):441. doi: 10.1186/s13023-022-02527-y. Orphanet J Rare Dis. 2022. PMID: 36536417 Free PMC article.
Patient pathways for rare diseases in Europe: ataxia as an example.
Vallortigara J, Greenfield J, Hunt B, Hoffman D, Reinhard C, Graessner H, Federico A, Quoidbach V, Morris S, Giunti P. Vallortigara J, et al. Among authors: graessner h. Orphanet J Rare Dis. 2023 Oct 17;18(1):328. doi: 10.1186/s13023-023-02907-y. Orphanet J Rare Dis. 2023. PMID: 37848998 Free PMC article.
Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases.
Painous C, van Os NJH, Delamarre A, Michailoviene I, Marti MJ, van de Warrenburg BP, Meissner WG, Utkus A, Reinhard C, Graessner H, Tijssen MA. Painous C, et al. Among authors: graessner h. Eur J Neurol. 2020 Aug;27(8):1493-1500. doi: 10.1111/ene.14302. Epub 2020 Jun 19. Eur J Neurol. 2020. PMID: 32386078 Free PMC article.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Among authors: graessner h. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Zurek B, et al. Among authors: graessner h. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Eur J Hum Genet. 2021. PMID: 34075208 Free PMC article.
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortium. Matalonga L, et al. Among authors: graessner h. Eur J Hum Genet. 2021 Sep;29(9):1466-1469. doi: 10.1038/s41431-021-00934-6. Eur J Hum Genet. 2021. PMID: 34393220 Free PMC article. No abstract available.
Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Among authors: graessner h. Eur J Hum Genet. 2021 Sep;29(9):1462-1465. doi: 10.1038/s41431-021-00935-5. Eur J Hum Genet. 2021. PMID: 34429526 Free PMC article. No abstract available.
63 results