Specific disease management aspects – Page 2 – ERN-RND | European Reference Network on Rare Neurological Diseases

Introduction into Leukodystrophies

28 Jan. 2020

Speaker: Nicole Wolf
VU University Medical Center Amsterdam, Netherlands

Recording

Slides

The inherited ataxias

14 Jan. 2020

Speaker: Paola Giunti
UCL Queen Square Institute of Neurology, London, United Kingdom

Recording

Slides

Clinical Practice for Primary Progressive Aphasia (PPA) – Interview with Robert Rusina
May 5, 2025
It takes „about one year from the first symptoms to the first consultation of a physician, and another one year …read more »
Survey on Myoclonus Dystonia Syndrome
April 10, 2025
Myoclonus-dystonia syndrome (MDS) is a genetic movement disorder with childhood-onset, most frequently caused by SGCE defects. For this survey two …read more »
The Importance of Newborn Screening for Metachromatic Leukodystrophy (MLD)
April 7, 2025
MLD is a neurodegenerative disorder, that affects children at a very young age, leading to a premature death. In a …read more »

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Der Code des Lebens @dercodedeslebens.bsky.social 4 days

📣 Neue Folge: Von Basenpaaren und Bytes
Das menschliche Genom hat 3 Milliarden Basenpaare – eine riesige Datenflut, die nur mit Bioinformatik zu bewältigen ist. Camill Kaipf erklärt, wie man in dieses Feld kommt und warum eine sichere IT-Infrastruktur so wichtig ist.
🎧 t1p.de/xebt4
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The German Human Genome-Phenome Archive @ghga.bsky.social 1 week

🎬 In case you missed our webinar on Benchmarking and quality control for genomic variant calling with Johannes Köster., you can now watch the recordings on our Training Website: www.ghga.de/resources/tr...
The slides are also available on GHGA GitHub: github.com/GHGA-Trainin...
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ERKNet - European Reference Network for Rare Kidney Diseases @erknet.bsky.social 2 weeks

Erksplain - Kidney Transplantation 🚨

Kidney transplants save lives — but the average wait is 6–8 years.
Deceased donors are matched by urgency and compatibility.
Most people can donate — just register or tell your family! 💡

Organ donation = a true gift of life. 🌍

#KidneyTransplant #SaveLives
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ERN-RND @ern-rnd.bsky.social 2 weeks

💻 U#webinar#webinar on “Recent Advances in Clinical Trials in Multiple System Atrophy”
📅 20th May, 3:00 CEST
🗣️ David Bendetowicz, University Hospital Bordeaux, France
Sign https://t1p.de/ri7k3de/ri7k3
Joint with the European Reference Network for Rare Neuromuscular Diseases and
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ERN-RND @ern-rnd.bsky.social 2 weeks

💻 U#webinar#webinar on “Neurogeriatric Aspects in Rare Forms of Ataxia and HSP”
📅 13th May, 3:00 CEST
🗣️ Eleni Zamba-Papanicolaou, Cyprus Institute of Neurology and Genetics
Sign https://t1p.de/v8r2hde/v8r2h
Joint with the European Reference Network for Rare Neuromuscular Diseases and