Ep. 142: Papers of the Month: Mismatch Repair & DNA Expansion in Huntington’s Disease

Ep. 142: Papers of the Month: Mismatch Repair & DNA Expansion in Huntington’s Disease

Moderator: Jean-Marc Burgunder (Guemligen, Switzerland)Guest: Sandrine Humbert (Paris, France)In this week's episode, Burgunder and Humbert discuss the intriguing phenomenon of somatic expansion—the further increase of CAG repeat numbers in the gene involved in Huntington’s disease, particularly in the striatum. They explore the molecular mechanisms behind this process, as addressed in two recent research papers.Please find here the papers discussed in this episode: Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s diseaseand Distinct mismatch-repair complex genes set neuronal CAG-repeat expansion rate to drive selective pathogenesis in HD mice.eanCampus access for Associate Members: If you are a member of a National Neurological Society in Europe, you are most likely aleady an Associate Member of the EAN and have an account for the eanCampus. If you have provided your email address to your National Neurological Society, it should already be in our database. Here is how you can access the eanCampus as an Associate Member:1. Enter the eanCampus2. Click on the Log In Button3. Log in with your MyEAN credentials and make use of the ‘forgot password’-functionality if necessaryIf you have trouble logging in, please get in contact with our Membership department (membership@ean.org) to cross-check if you are listed as an Associate Member to get access to eanCampus.

Jaksot(187)

Ep. 147: Basic Immunology in Rare CNS Disorders

Ep. 147: Basic Immunology in Rare CNS Disorders

Moderator: Gianmarco Abbadessa (Naples, Italy) Guest: Heinz Wiendl (Muenster, Germany) In this episode, Abbadessa and Wiendl delve into the pathogenesis and pathophysiology of rare CNS autoimmune dis...

11 Touko 202531min

Ep. 146: Importance of brain donation in neurodegenerative diseases

Ep. 146: Importance of brain donation in neurodegenerative diseases

Ean Moderator: Yıldız Değirmenci (Istanbul, Türkiye) Guest: Didem Öz (Izmir, Türkiye) In this episode, Değirmenci and Öz discuss the vital importance of brain donation in understanding and treating...

4 Touko 202527min

Ep. 145: Why Should Neurologists Care About the World Dance Day?

Ep. 145: Why Should Neurologists Care About the World Dance Day?

Moderator: Alicia Gonzalez Martinez (Madrid, Spain) Guests: Thomas Berger (Vienna, Austria), Julia Polai (Innsbruck, Austria) In this episode for World Dance Day, Gonzales Martinez discusses the phys...

27 Huhti 202520min

Ep. 144: New Methods to Identify Larger Structural Variants

Ep. 144: New Methods to Identify Larger Structural Variants

Moderator: Maria Judit Molnar (Budapest, Hungary) Guest: Arianna Tucci (London, UK) In this episode Molnar hosts Tucci as they explore how advancements in short- and long-read sequencing technologies...

20 Huhti 202519min

Ep. 143: Novel Aspects of Repeat Expansions in Disease

Ep. 143: Novel Aspects of Repeat Expansions in Disease

Moderator: Francesca Magrinelli (London, UK)Guest: Andrea Cortese (London, UK)Join Magrinelli as she interviews Cortese about recent developments in the diagnosis and management of repeat expansion di...

13 Huhti 202521min

Ep. 141: Sodium Valproate in Men

Ep. 141: Sodium Valproate in Men

EAN moderator: Barbara Tettenborn (St. Gallen, Switzerland) Guest: Tony Marson (Liverpool, UK) In this special episode, Tettenborn and Marson discuss sodium valproate treatment for epilepsy, focusing...

30 Maalis 202518min

Ep. 140: Transition from Childhood to Adulthood​

Ep. 140: Transition from Childhood to Adulthood​

Moderator: Gudrun Gröppel​ (Linz, Austria) Guests: Dana Craiu​ (Bucharest, Romania), Thomas Berger​ (Vienna, Austria) This episode explores the challenges and solutions in transitioning young neurol...

23 Maalis 202520min

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