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(186)

Ep. 178: Interpreting emergency EEG in suspected non-convulsive status epilepticus

Ep. 178: Interpreting emergency EEG in suspected non-convulsive status epilepticus

Moderator: Justyna Paprocka (Katowice, Poland) Guests: Stephan Rüegg (Basel, Switzerland), Markus Leitinger (Salzburg, Austria) In this episode, Justyna Paprocka welcomes Stefan Rüegg and Markus Leit...

7 Joulu 202537min

Ep. 177: Bridging Insights: Highlights from the EAN Pain and Headache Panels

Ep. 177: Bridging Insights: Highlights from the EAN Pain and Headache Panels

Moderator: Messud Ashina (Copenhagen, Denmark) Guests: Theodoros Mavridis (Dublin, Ireland), Oxana Grosu (Chișinău, Moldova) In this episode, Messud Ashina is joined by Theodoros Mavridis and Oxana ...

30 Marras 202535min

Ep. 176: Embolic Stroke of Undetermined Source: Diagnostic Challenges and Therapeutic Options

Ep. 176: Embolic Stroke of Undetermined Source: Diagnostic Challenges and Therapeutic Options

Moderator: Theodoros Mavridis (Dublin, Ireland) Guests: Diana Aguiar de Sousa (Lisbon, Portugal), Mira Katan (Basel, Switzerland) Embolic stroke of undetermined source (ESUS) continues to challenge c...

23 Marras 202536min

Ep. 175: Acute Ischemic Stroke: Evolving Guidelines and Clinical Decisions

Ep. 175: Acute Ischemic Stroke: Evolving Guidelines and Clinical Decisions

Theodoros Mavridis (Dublin, Ireland) Ana Catarina Fonseca (Lisbon, Portugal) In this episode, Theodoros Mavridis speaks with Ana Catarina Fonseca about the updated European guidelines for acute is...

16 Marras 202524min

Ep. 174: Breakthrough Stroke: Diagnostic and Therapeutic Dilemmas

Ep. 174: Breakthrough Stroke: Diagnostic and Therapeutic Dilemmas

Moderator: Theodoros Mavridis (Dublin, Ireland) Guest: David Seiffge (Bern, Switzerland) In this episode, Theodoros Mavridis speaks with guest David Seiffge about breakthrough strokes, a challengin...

9 Marras 202522min

Ep. 173: Acute Intracerebral Haemorrhage: Modern Management Strategies

Ep. 173: Acute Intracerebral Haemorrhage: Modern Management Strategies

Moderator: Benedetta Storti (San Donà di Piave, Italy) Guest: Charlotte Cordonnier (Lille, France) Join Benedetta Storti and Charlotte Cordonnier for a discussion on the acute management of intrace...

2 Marras 202521min

Ep. 172: Brain health ambassadors: bridging advocacy and action into neurology

Ep. 172: Brain health ambassadors: bridging advocacy and action into neurology

Moderator: Mathilde Leonardi (Milan, Italy) Guests: Sanja Gluscevic (Podgorica, Montenegro), Simone Salemme (Modena, Italy) This episode explores how early-career neurologists can bridge science, p...

26 Loka 202524min

Ep. 171: AI: A Virtual Elephant in the Room or a Game-Changer in Neuroscience?

Ep. 171: AI: A Virtual Elephant in the Room or a Game-Changer in Neuroscience?

Moderator: Alice Accorroni (Geneva, Switzerland) Guests: James Teo (London, UK), Giuseppe Jurman (Trento, Italy) In this special episode, Dr Alice Accorroni is joined by Professor James Teo and Prof...

19 Loka 202530min

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