Search Results - "Graessner H"

IonNeurONet - Deutsches Netzwerk für neurologische und ophthalmologische Ionenkanalerkrankungen.

Alternate Title: IonNeurONet-German network of neurological and ophthalmological ion channel disorders.

Authors: Zurek, B. Graessner, H. Lerche, H.

Source: Medizinische Genetik. Dec2013, Vol. 25 Issue 4, p501-505. 5p.

Behandlungs- und Forschungszentrum für Seltene Erkrankungen Tübingen.

Alternate Title: Treatment and research center for rare diseases in Tübingen.

Authors: Rieß, O. Graessner, H.

Source: Medizinische Genetik. Sep2010, Vol. 22 Issue 3, p351-362. 12p.

Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases.

Authors: Painous, C. Os, N. J. H. Delamarre, A. et al.

Source: European Journal of Neurology. Aug2020, Vol. 27 Issue 8, p1493-1500. 8p. 1 Map.

Subjects: European Union, Chorea, Neurological disorders, Movement disorders, Rare diseases, Deep brain stimulation, Botulinum toxin

APPLICATION OF NEXT GENERATION TECHNOLOGIES: EP.319 The Treatabolome flags treatable genes and variants: an emerging concept.

Authors: Atalaia, A. Thompson, R. Matalonga, L. et al.

Source: Neuromuscular Disorders. 2021 Supplement 1, Vol. 31, pS146-S147. 2p.

European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.

Authors: Fortunato F Selvatici R Kirschner J et al.

Source: Frontiers in public health [Front Public Health] 2026 Jun 10; Vol. 14, pp. 1822461. Date of Electronic Publication: 2026 Jun 10 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Internet ISSN: 2296-2565 (Electronic) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: MEDLINE

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Authors: Menden B Incebacak Eltemur RD Demidov G et al.

Corporate Authors: Menden B Incebacak Eltemur RD Demidov G et al.

Source: Nature communications [Nat Commun] 2026 Feb 14; Vol. 17 (1), pp. 1698. Date of Electronic Publication: 2026 Feb 14.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Guidance on communication and informed consent with patients and their families for experimental individualized treatments.

Authors: Aartsma-Rus A de Gusmao CM Demarest S et al.

Source: American journal of human genetics [Am J Hum Genet] 2026 Jun 04; Vol. 113 (6), pp. 1168-1174. Date of Electronic Publication: 2026 May 26.

Publication Type: Journal Article; Review

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Friedreich's ataxia patient pathway in Europe.

Authors: Vallortigara J Greenfield J Hunt B et al.

Source: Frontiers in health services [Front Health Serv] 2026 May 28; Vol. 6, pp. 1817584. Date of Electronic Publication: 2026 May 28 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 9918334887706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2813-0146 (Electronic) Linking ISSN: 28130146 NLM ISO Abbreviation: Front Health Serv Subsets: PubMed not MEDLINE

Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies.

Authors: Nolen N Aartsma-Rus A Caneva C et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 May 21. Date of Electronic Publication: 2026 May 21.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.

Authors: Graessner H Ripp S Pereira AM et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Apr 14; Vol. 21 (1). Date of Electronic Publication: 2026 Apr 14.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE; In Process

The organizational dimension in rare and complex diseases care management: an application of RarERN Path^© methodology in ataxias, dystonia and phenylketonuria.

Authors: Cannizzo S Quoidbach V Trieste L et al.

Source: BMC health services research [BMC Health Serv Res] 2025 Jun 04; Vol. 25 (1), pp. 799. Date of Electronic Publication: 2025 Jun 04.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101088677 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6963 (Electronic) Linking ISSN: 14726963 NLM ISO Abbreviation: BMC Health Serv Res Subsets: MEDLINE

From roadmap to a sustainable end-to-end individualized therapy pathway.

Authors: Jonker AH Tataru EA Dimmock DP et al.

Source: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2025 May 27; Vol. 6, pp. 26330040251339204. Date of Electronic Publication: 2025 May 27 (Print Publication: 2025).

Publication Type: Journal Article; Review

Journal Info: Publisher: Sage Country of Publication: England NLM ID: 9918557474706676 Publication Model: eCollection Cited Medium: Internet ISSN: 2633-0040 (Electronic) Linking ISSN: 26330040 NLM ISO Abbreviation: Ther Adv Rare Dis Subsets: PubMed not MEDLINE

Sharing EHR data of patients with rare diseases for research - The role of quality assessments in a national federated research data infrastructure.

Authors: Tahar K Verbuecheln R Martin T et al.

Source: BMC medical informatics and decision making [BMC Med Inform Decis Mak] 2026 Mar 02; Vol. 26 (1). Date of Electronic Publication: 2026 Mar 02.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101088682 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6947 (Electronic) Linking ISSN: 14726947 NLM ISO Abbreviation: BMC Med Inform Decis Mak Subsets: MEDLINE

KLINSE: a comprehensive service model for rare disease information and care management support.

Authors: Jäger K Dannenmann-Stern E Inbasi S et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Jan 31; Vol. 21 (1). Date of Electronic Publication: 2026 Jan 31.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?

Authors: Groza T Marcello AJ Carlisle T et al.

Source: HGG advances [HGG Adv] 2026 Jan 15; Vol. 7 (1), pp. 100558. Date of Electronic Publication: 2025 Dec 11.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Authors: Yépez VA Demidov G Ellwanger K et al.

Corporate Authors: Yépez VA Demidov G Ellwanger K et al.

Source: Nature genetics [Nat Genet] 2026 Jan; Vol. 58 (1), pp. 231.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; In Process

Pharmacotherapy for behavioural manifestations in frontotemporal dementia: An expert consensus from the European Reference Network for Rare Neurological Diseases (ERN-RND).

Authors: Wittebrood C Boban M Cagnin A et al.

Source: European journal of neurology [Eur J Neurol] 2024 Dec; Vol. 31 (12), pp. e16446. Date of Electronic Publication: 2024 Oct 24.

Publication Type: Journal Article; Consensus Statement

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

Authors: Di Feo MF Paramonov I Matalonga Borrel L et al.

Corporate Authors: Di Feo MF Paramonov I Matalonga Borrel L et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Nov 20; Vol. 28 (6), pp. 101649. Date of Electronic Publication: 2025 Nov 20.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Authors: Yépez VA Demidov G Ellwanger K et al.

Corporate Authors: Yépez VA Demidov G Ellwanger K et al.

Source: Nature genetics [Nat Genet] 2025 Oct; Vol. 57 (10), pp. 2361-2370. Date of Electronic Publication: 2025 Sep 09.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Authors: Laurie S Steyaert W de Boer E et al.

Corporate Authors: Laurie S Steyaert W de Boer E et al.

Source: Nature medicine [Nat Med] 2025 Aug; Vol. 31 (8), pp. 2819-2820.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE; In Process