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Model für personalisierte Diagnostik und Therapie in der Neurologie – Deutsche Akademie für Seltene Neurologische Erkrankungen.
- Published in:
- Der Nervenarzt, 2019, v. 90, n. 8, p. 796, doi. 10.1007/s00115-019-0750-2
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- Publication type:
- Article
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00485-5
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- Publication type:
- Article
se-atlas.de – Versorgungsatlas für Menschen mit Seltenen Erkrankungen.
- Published in:
- Der Internist, 2021, v. 62, n. 10, p. 1115, doi. 10.1007/s00108-021-01085-y
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- Publication type:
- Article
Europäische Referenznetzwerke (ERN) - Bedeutung für die Versorgung von Patienten mit seltenen Erkrankungen in Deutschland.
- Published in:
- Medizinische Genetik, 2017, v. 29, n. 1, p. 8, doi. 10.1007/s11825-017-0119-5
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- Publication type:
- Article
Penumbral Rescue by normobaric O = O administration in patients with ischemic stroke and target mismatch proFile (PROOF): Study protocol of a phase IIb trial.
- Published in:
- International Journal of Stroke, 2024, v. 19, n. 1, p. 120, doi. 10.1177/17474930231185275
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- Publication type:
- Article
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 2, p. 835, doi. 10.1007/s00415-023-12017-1
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- Publication type:
- Article
Dystonia management across Europe within ERN-RND: current state and future challenges.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 2, p. 797, doi. 10.1007/s00415-022-11412-4
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- Publication type:
- Article
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03075-3
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- Publication type:
- Article
Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02971-4
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- Publication type:
- Article
Patient pathways for rare diseases in Europe: ataxia as an example.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02907-y
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- Publication type:
- Article
Auf dem Weg zu einer besseren Versorgung und Forschung bei Seltenen Erkrankungen.
- Published in:
- 2022
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- Publication type:
- Editorial
Versorgernetzwerke für Menschen mit Seltenen Erkrankungen: Daten und Expertise bündeln.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2022, v. 65, n. 11, p. 1164, doi. 10.1007/s00103-022-03592-1
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- Publication type:
- Article
Datenstandards für Seltene Erkrankungen.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2022, v. 65, n. 11, p. 1126, doi. 10.1007/s00103-022-03591-2
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- Publication type:
- Article
Se-atlas-cartographic representation of experts for rare diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P1, doi. 10.1186/1750-1172-9-S1-P1
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- Publication type:
- Article
First German Academy for Further Medical Training on Rare Diseases (FAKSE, http://www.fakse.info).
- Published in:
- 2012
- By:
- Publication type:
- Abstract
A systematic review of the characteristics and validity of monitoring technologies to assess Parkinson's disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective.
- Published in:
- Movement Disorders, 2022, v. 37, n. 6, p. 1125, doi. 10.1002/mds.29032
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- Publication type:
- 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.
- Published in:
- 2021
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- Publication type:
- journal article
Europäische Referenznetzwerke.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2017, v. 60, n. 5, p. 537, doi. 10.1007/s00103-017-2533-x
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- Publication type:
- Article
Editorial: Networks in Movement Disorders. To Move or Not to Move.
- Published in:
- 2021
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- Publication type:
- Editorial
Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.646841
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- Publication type:
- Article
Key priorities in rare neurological diseases: A statement from the Coordinating Panel on Rare Neurological Diseases of the European Academy of Neurology.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 6, p. 1553, doi. 10.1111/ene.15752
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- Publication type:
- Article
How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 7, p. 1885, doi. 10.1111/ene.15320
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- Publication type:
- Article
Rare disease education in Europe and beyond: time to act.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02527-y
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- Publication type:
- Article
Establishing and boosting communication in the European Reference Network for Rare Neurological Diseases (ERN-RND): the impact of offering free educational webinars.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02209-9
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- Publication type:
- Article
Development of a patient journey map for people living with cervical dystonia.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Establishing and boosting communication in the European Reference Network for Rare Neurological Diseases (ERN-RND): the impact of offering free educational webinars.
- Published in:
- 2022
- By:
- Publication type:
- journal 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.
- Published in:
- 2022
- By:
- Publication type:
- journal article