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Page 1
Transition for adolescents with a rare disease: results of a nationwide German project.
Grasemann C, Höppner J, Burgard P, Schündeln MM, Matar N, Müller G, Krude H, Berner R, Lee-Kirsch MA, Hauck F, Wainwright K, Baumgarten S, Atinga J, Bauer JJ, Manka E, Körholz J, Kiewert C, Heinen A, Kretschmer T, Kurth T, Mittnacht J, Schramm C, Klein C, Graessner H, Hiort O, Muntau AC, Grüters A, Hoffmann GF, Choukair D. Grasemann C, et al. Among authors: graessner h. Orphanet J Rare Dis. 2023 Apr 25;18(1):93. doi: 10.1186/s13023-023-02698-2. Orphanet J Rare Dis. 2023. PMID: 37098531 Free PMC article.
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Reinhard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G. Atalaia A, et al. Among authors: graessner h. Orphanet J Rare Dis. 2020 Aug 12;15(1):206. doi: 10.1186/s13023-020-01493-7. Orphanet J Rare Dis. 2020. PMID: 32787960 Free PMC article.
Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases.
Post AEM, Klockgether T, Landwehrmeyer GB, Pandolfo M, Arnesen A, Reinhard C, Graessner H. Post AEM, et al. Among authors: graessner h. Orphanet J Rare Dis. 2021 Mar 18;16(1):135. doi: 10.1186/s13023-020-01641-z. Orphanet J Rare Dis. 2021. PMID: 33736655 Free PMC article.
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study.
Hebestreit H, Zeidler C, Schippers C, de Zwaan M, Deckert J, Heuschmann P, Krauth C, Bullinger M, Berger A, Berneburg M, Brandstetter L, Deibele A, Dieris-Hirche J, Graessner H, Gündel H, Herpertz S, Heuft G, Lapstich AM, Lücke T, Maisch T, Mundlos C, Petermann-Meyer A, Müller S, Ott S, Pfister L, Quitmann J, Romanos M, Rutsch F, Schaubert K, Schubert K, Schulz JB, Schweiger S, Tüscher O, Ungethüm K, Wagner TOF, Haas K; ZSE-DUO working group. Hebestreit H, et al. Among authors: graessner h. Orphanet J Rare Dis. 2022 Feb 14;17(1):47. doi: 10.1186/s13023-022-02176-1. Orphanet J Rare Dis. 2022. PMID: 35164804 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.
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.
Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Reinhard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G. Atalaia A, et al. Among authors: graessner h. Orphanet J Rare Dis. 2021 Mar 22;16(1):145. doi: 10.1186/s13023-021-01777-6. Orphanet J Rare Dis. 2021. PMID: 33752678 Free PMC article. No abstract available.
[Rare-disease data standards].
Robinson PN, Graessner H. Robinson PN, et al. Among authors: graessner h. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022 Nov;65(11):1126-1132. doi: 10.1007/s00103-022-03591-2. Epub 2022 Sep 23. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022. PMID: 36149471 Free PMC article. Review. German.
74 results