Diagnosis/Neurogenetics – Page 3 – ERN-RND | European Reference Network on Rare Neurological Diseases

Better Conversations – Communication Partner Training for language led dementias

18 May 2021

Speaker: Kathryn Peall
Neurosciences and Mental Health Research Institute, Cardiff, United Kingdom

Approach to the patient with non-HD chorea

20 Apr. 2021

Speaker: Ruth Walker
James J. Peters Veterans Affairs Medical Center, New York City, USA
Department of Neurology, Mount Sinai School of Medicine, New York City, USA

MR Biomarkers in Spinocerebellar Ataxias

13 Apr. 2021

Speaker: Gülin Öz
University of Minnesota, USA

Challenges in Frontotemporal Dementia: clinical, genetic and pathological heterogeneity

23 Mar. 2021

Speaker: Harro Seelaar
Erasmus University Medical Center, Rotterdam, Netherlands

Myoclonus dystonia

9 Mar. 2021

Speaker: Belén Pérez Dueñas
Vall d’Hebron University Hospital, Barcelona, Spain

Genetic dystonia and treatment

2 Feb. 2021

Speaker: Sylvia Boesch
Medical University Innsbruck, Austria

Progressive Supranuclear Palsy – Update on Diagnostics, Biomarkers, Therapies

26 Jan. 2021

Speaker: Günter Höglinger
Hannover Medical School, Germany

Functional movement disorders: a diagnostic guide

1 Dec. 2020

Speaker: Christos Ganos
Charité, University Medicine Berlin, Germany

Development of Sara-home: a novel assessment tool for patients with ataxia.

24 Nov. 2020

Speaker: Gessica Vasco & Susanna Summa
Pediatric Hospital Bambino Gesù, Rome, Italy

Diagnostic algorithm for childhood onset chorea

13 Oct. 2020

Speaker: Juan Dario Ortigoza Escobar
Sant Joan de Déu Hospital, Barcelona, Spain

A challenge in neurogenetics: Huntington disease in kids

15 Sep. 2020

Speaker: Ferdinando Squitieri
IRCCS – CSS-Mendel Institute, Rome, Italy

How to assess and manage spastic gait in rare diseases

10 Sep. 2020

Speaker: Gál Ota
Charles University and General University Hospital, Prague, Czech Republic

Semantic variant of primary progressive aphasia

8 Sep. 2020

Speaker: Robert Rusina
Thomayer Hospital, Prague, Czech Republic

Primary progressive aphasia subtyping in clinical practice

26 May. 2020

Speaker: Rik Vandeberghe
University Hospital Leuven, Belgium

Paroxysmal dyskinesias: update on clinical and genetic aspects

12 May. 2020

Speaker: Giovanna Zorzi
IRCCS – Foundation of the Carlo Besta Neurological Institute, Milan, Italy

Hypomyelination

21 Apr. 2020

Speaker: Nicole Wolf
VU University Medical Center Amsterdam, Netherlands

Recognizing atypical parkinsonism

14 Apr. 2020

Speaker: Wassilios Meissner
Institute of Neurodegenerative Disorders, CHU – University Hospital Bordeaux, France

X-linked Adrenoleukodystrophy

17 Mar. 2020

Speaker: Marc Engelen
VU University Medical Center Amsterdam, Netherlands

Ultrasound diagnostics for cervical dystonia

3 Mar. 2020

Speaker: Tobias Bäumer
University Hospital Schleswig-Holstein, Lübeck, Germany

Mitochondrial disorder with chorea

18 Feb. 2020

Speaker: Martin Paucar Arce
Karolinska University Hospital, Stockholm, Sweden

Introduction into Leukodystrophies

28 Jan. 2020

Speaker: Nicole Wolf
VU University Medical Center Amsterdam, Netherlands

Immune-mediated choreas

21 Jan. 2020

Speaker: Jan Lewerenz
University Hospital Ulm, Germany

The inherited ataxias

14 Jan. 2020

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

Non-progressive congenital ataxia

3 Dec. 2019

Speaker: Adrian Danek
Ludwig Maximilian University Hospital, Munich, Germany

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