How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey-Reference-Cited by-同舟云学术

How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey

Published:2022-03-22 Issue:7 Volume:29 Page:1885-1891
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Euro J of Neurology

Author:

Mancuso Michelangelo¹^ORCID,Houlden Henry²,Molnar Maria Judit³,Filla Alessandro⁴,Breza Marianthi²,Graessner Holm⁵,Bassetti Claudio L. A.⁶^ORCID,Boesch Sylvia⁷

Affiliation:

1. Department of Clinical and Experimental Medicine Neurological Institute University of Pisa Pisa Italy

2. Department of Neuromuscular Disease UCL Queen Square Institute of Neurology The National Hospital for Neurology and Neurosurgery London UK

3. Institute of Genomic Medicine and Rare Disorders Semmelweis University Budapest Hungary

4. Department of Neurosciences, Reproductive and Odontostomatological Sciences Federico II University Naples Italy

5. Institute for Medical Genetics and Applied Genomics Centre for Rare Diseases University of Tübingen Tübingen Germany

6. Department of Neurology Inselspital, University Hospital Bern Switzerland

7. Department of Neurology Center for Rare Movement Disorders Innsbruck Medical University Innsbruck Innsbruck Austria

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.15320

Reference9 articles.

1. Genetic disorders in children and young adults: a population study;Baird PA;Am J Hum Genet,1988

2. Council Recommendation of 8 June 2009 on an action in the field of rare diseases;Petr Š;Off J Eur Union,2009

3. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

4. Review of 11 national policies for rare diseases in the context of key patient needs

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

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