Search Results for: huntington

University Hospital Henri Mondor, National Reference Centre for Huntington’s Disease, France Pitié-Salpêtrière Hospital, National Reference Centre « Neurogenetics », Paris, France

Al-Saady ML, Kaiser CS, Wakasuqui F, Korenke GC, Waisfisz Q, Polstra A, Pouwels PJW, Bugiani M, van der Knaap MS, Lunsing RJ, Liebau E, Wolf NI (2021). Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy. Neuropediatrics. Dec;52(6):489-494. doi: 10.1055/s-0041-1724130. Epub 2021 Apr 14. PMID: 33853163. Afonso Ribeiro J, Simeoni S, De … Continue reading “2021 Publications acknowledging ERN-RND”

In this edition of “Meet the members”, we interview Astri Arnesen, ERN-RND ePAG representative and president of the European Huntington Association. She will tell us more about her work within ERN-RND and her expectations for the network. 1. What is your profession (department, affiliation, etc.) and your medical expertise or specific field of interest? I … Continue reading “Meet the members: Astri Arnesen”

In this edition of “Meet the members”, we interview Juan Darío Ortigoza-Escobar, a paediatric neurology consultant who leads the Movement Disorders Unit at the Paediatric Neurology Department of the Sant Joan de Déu Hospital in Barcelona, Spain. He will tell us a bit more about his work in the hospital, within ERN-RND and his expectations … Continue reading “Meet the members: Juan Darío Ortigoza-Escobar”

  Balicza P, Bencsik R, Lengyel A, Gal A, Grosz Z, Csaban D, Rudas G, Danics K, Kovacs G G, Molnar M J (2020) Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability. Neurol Genet. 6(5):e515. doi: 10.1212/NXG.0000000000000515. Dusek P, Mekle R, Skowronska M, Acosta-Cabronero J, Huelnhagen T, Robinson … Continue reading “2020 Publications acknowledging ERN-RND”

Mary Kearney, Friedreich’s Ataxia Research Alliance Ireland (FARA), Patient Advocate Robert Rusina, Thomayer Teaching Hospital and Charles University in Prague, Czech Republic Nataliya Grigorova, Bulgarian Huntington Association, ERN-RND ePAGs group coordinator Johannes Levin, Department of Neurology, Ludwig-Maximilians-University Munich, Germany Bart van de Warrenburg, Radboud university medical center, Nijmegen, the Netherlands Astri Arnesen, President of the … Continue reading “Meet the members”

  Albrecht F, Mueller K, Ballarini T, Lampe L, Diehl-Schmid J, Fassbender K, Fliessbach K, Jahn H, Jech R, Kassubek J, Kornhuber J, Landwehrmeyer B, Lauer M, Ludolph A C, Lyros E, Prudlo J, Schneider A, Synofzik M, Wiltfang J, Danek A, Otto M, FTLD-Consortium, Schroeter M L (2019) Unraveling corticobasal syndrome and alien limb … Continue reading “2019 Publications acknowledging ERN-RND”

Borm C, Krismer F, Wenning G K, Seppi K, Poewe W, Pellecchia M T, Barone P, Johnsen E L, Østergaard K, Gurevich T, Djaldetti R, Sambati L, Cortelli P, Petrović I, Kostić VS, Brožová H, Růžička E, Marti MJ, Tolosa E, Canesi M, Post B, Nonnekes J, Bloem BR, on behalf of the European MSA … Continue reading “2018 publications acknowledging ERN-RND”

To establish a demographic platform for collection of relevant core patient information covering children and adults To collect information on how many patients per Disease Group covered by ERN-RND are treated across Europe To improve the medical care of patients in particular with regard to diagnosis and standards of care To facilitate participation of patients … Continue reading “ERN-RND Registry”

2023 | ERN-RND 14 March | FTD- in whom, when and how genetic testing should be applied Speaker: Laura Donker Kaat, Erasmus Medical Center Rotterdam, Netherlands Slides are coming soon Recording coming soon   07 March | Towards precision medicine in NBIA Speaker: Manju Kurian, GOS Institute of Child Health, University College London, UK Slides … Continue reading “Past webinars”

A European Reference Network (ERN) is a virtual network comprised of healthcare professionals spread around Europe. Their objective is to tackle complex or rare diseases and conditions that necessitate highly specialised treatment and a concentration of knowledge and resources. Indeed, often a disease is so rare that expert knowledge is not available in the patient’s … Continue reading “About us”

The listed disease networks and study groups are external networks and groups, which are leaders in the field of research for these disease groups. ERN-RND’s work is based on and complimentary to the work being done by these networks.

  The Disease Knowledge pages provide useful information about the different disease groups listed below that the ERN-RND covers. You can visit a Disease Knowledge page by clicking on the specific disease group under the “Disease Knowledge” menu above.   Cerebellar Ataxia & Hereditary Spastic Paraplegias (HSPs) Chorea & Huntington’s disease Dystonias, Neurodegeneration with Brain … Continue reading “DISEASE KNOWLEDGE”