Ep. 83: Distal Muscular Weakness: New Genes and Pathogenetic Mechanisms

Ep. 83: Distal Muscular Weakness: New Genes and Pathogenetic Mechanisms

Moderator: Gabriele Siciliano (Pisa, Italy) Guest: Tiziana Mongini (Torino, Italy) In this episode, Prof. Gabriele Siciliano and Prof. Tiziana Mongini discuss a recent paper on Bag3 gene mutations linked to neurogenic distal muscle atrophy. They explore the evolving understanding of muscle dystrophies, the importance of genetic and molecular aspects, and challenges in diagnosis. Mongini underscores the significance of ancillary exams like neurophysiology and muscle MRI. They emphasize the complexity of genetic testing, advocating for a multidimensional approach involving clinical, genetic, and imaging data. Collaboration between basic and clinical researchers is stressed to comprehend neuromuscular complexities. The podcast concludes with a reminder to interpret genetic results cautiously and remain open-minded to diverse clinical presentations.

Jaksot(187)

Ep. 123: News on the risk of malformations and developmental impairment among the offspring of male patients under antiseizure medication​

Ep. 123: News on the risk of malformations and developmental impairment among the offspring of male patients under antiseizure medication​

Moderator: Bernhard J. Steinhoff (Kehl-Kork, Germany) Guest: Jakob Christensen (Aarhus, Denmark) In this last November episode Bernhard Steinhoff and Jakob Christensen give an update on new data con...

24 Marras 202416min

Ep. 122: News on the risk of malformations and developmental impairment among the offspring of female patients under antiseizure medication

Ep. 122: News on the risk of malformations and developmental impairment among the offspring of female patients under antiseizure medication

Moderator: Bernhard J. Steinhoff (Kehl-Kork, Germany) Guest: Jakob Christensen (Aarhus, Denmark) This week Bernhard Steinhoff talks with Jakob Christensen about the latest news on the risk of antisei...

17 Marras 202418min

Ep. 121: New developments concerning neurostimulation in epilepsy​

Ep. 121: New developments concerning neurostimulation in epilepsy​

Moderator: Bernhard J. Steinhoff (Kehl-Kork, Germany) Guest: Kristl Vonck (Gent, Belgium) In this episode, Bernhard Steinhoff speaks with expert Kristl Vonck on the latest advancements in neurostimula...

10 Marras 202421min

Ep. 120: New developments of long- and ultralong EEG in epileptology​

Ep. 120: New developments of long- and ultralong EEG in epileptology​

Moderator: Bernhard J. Steinhoff (Kehl-Kork, Germany) Guest: Andreas Schulze-Bonhage (Freiburg, Germany) In this episode Bernhard J. Steinhoff and Andreas Schulze-Bonhage discuss the new fascinating ...

3 Marras 202420min

Ep. 119: Phase 2 HOPE clinical trial results

Ep. 119: Phase 2 HOPE clinical trial results

Moderator: Theodoros M. Mavridis (Dublin, Ireland) Guest: Messoud Ashina (Glostrup, Denmark) In this episode Theodoros M. Mavridis and Messoud Ashina delve into the findings of the Phase 2 HOPE clini...

27 Loka 202423min

Ep. 118: Rare causes of myelopathy

Ep. 118: Rare causes of myelopathy

Moderator: Roland Wiest (Bern, Switzerland) Guest: Randolf Klingebiel (Bielefeld, Germany) In this episode, Roland Wiest and Randolf Klingebiel explore rare causes of myelopathy, a challenging condit...

20 Loka 202423min

Ep. 117: Imaging of spinal cord ischemia

Ep. 117: Imaging of spinal cord ischemia

Moderator: Raphael Wurm (Vienna, Austria) Guest: Majda Thurnher (Vienna, Austria) For this episode, Raphaela Wurm welcomes Majda Thurnher to dive into the challenges and joys of diagnosing spinal cor...

13 Loka 202422min

Ep. 116: ​Indications and pitfalls of spinal imaging​

Ep. 116: ​Indications and pitfalls of spinal imaging​

Moderator: Raphael Wurm (Vienna, Austria) Guest: Dr. Wolfgang Marik (Vienna, Austria) In this episode, Raphael Wurm and Wolfgang Marik explore key neuroimaging techniques for the spine, focusing on...

6 Loka 202422min

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