Ep. 82: Gene Mutations and Gene Variants

Ep. 82: Gene Mutations and Gene Variants

Moderator: Federica Montagnese (Munich, Germany) Guest: Magda Mroczek (Basel, Switzerland) In this podcast, Dr. Federica Montagnese interviews Dr. Magdalena Mroczek about gene mutations and variants in neuromuscular disorders, with a focus on muscular dystrophies. They discuss the impact of advanced technologies on genetic testing, highlighting the importance of clinical data and collaboration between clinicians and geneticists. The conversation touches on challenges in interpreting variants, the role of epigenetic factors, and initiatives to enhance access to genetic tools in low-income countries through international collaborations. The podcast underscores the dynamic nature of genetic diagnostics, emphasizing the importance of continuous research and education in the field.

Jaksot(192)

Ep. 8: Intracerebral hemorrhage

Ep. 8: Intracerebral hemorrhage

Moderator: Prof. Barbara Tettenborn (St. Gallen, Switzerland) Guest: Prof. Dr. Thorsten Steiner (Frankfurt, Germany) Prof. Barbara Tettenborn speaks with Prof. Dr. Thorsten Steiner about the etiology,...

14 Elo 202221min

Ep. 7: Pre-Hospital Care

Ep. 7: Pre-Hospital Care

Moderator: Prof. Barbara Tettenborn (St. Gallen, Switzerland) Guest: Prof. Simon Jung (Bern, Switzerland) Prof. Barbara Tettenborn speaks with Stroke specialist Prof. Simon Jung to gain insight on acu...

7 Elo 202218min

Ep. 6:  Essentials of Stroke

Ep. 6: Essentials of Stroke

Moderator: Prof. Barbara Tettenborn (St. Gallen, Switzerland) Guest: Prof. Hanne Krarup Christensen (Copenhagen, Denmark) This month’s moderator Prof. Barbara Tettenborn speaks with Stroke Specialist ...

31 Heinä 202222min

Ep. 5: Hot Topics in Narcolepsy

Ep. 5: Hot Topics in Narcolepsy

Moderators: Prof. Thomas Berger (Vienna, Austria) and Dr. Ambra Stefani (Innsbruck, Austria) Guest: Prof. Claudio Bassetti (Bern, Switzerland) The final episode focusing on Sleep-Wake disorders bring...

24 Heinä 202225min

Ep. 4: Patient Perspectives in Narcolepsy

Ep. 4: Patient Perspectives in Narcolepsy

Moderators: Prof. Thomas Berger (Vienna, Austria) and Dr. Ambra Stefani (Innsbruck, Austria) Guest: Leontien Sickenga (The Netherlands) Prof. Berger and Dr. Stefani meet with Ms. Leontien Sickenga, a...

17 Heinä 202220min

Ep. 3: Diagnosis and Treatment of Narcolepsy

Ep. 3: Diagnosis and Treatment of Narcolepsy

Moderators: Prof. Thomas Berger (Vienna, Austria) and Dr. Ambra Stefani (Innsbruck, Austria) Guest: Dr. Rolf Fronczek (Leiden, Netherlands) Prof. Berger and Dr. Stefani speak with somnologist, Dr. Ro...

10 Heinä 202222min

Ep. 2: Basics of Sleep-Wake Disorders

Ep. 2: Basics of Sleep-Wake Disorders

Moderators: Prof. Thomas Berger (Vienna, Austria) and Dr. Ambra Stefani (Innsbruck, Austria) Guest: Dr. Evelina Pajediene (Vilnius, Lithuania) Prof. Berger and Dr. Stefani speak with sleep specialist ...

24 Kesä 202220min

Ep. 1: EAN eLearning

Ep. 1: EAN eLearning

Moderators: Prof. Thomas Berger (Vienna, Austria) and Dr. Ambra Stefani (Innsbruck, Austria) Guest: Prof. Barbara Tettenborn (St. Gallen, Switzerland) This month’s moderators, Prof. Thomas Berger and...

19 Kesä 202223min

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