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(186)

Ep. 186: Red flags of treatable mitochondrial disorders

Ep. 186: Red flags of treatable mitochondrial disorders

Moderator: Piervito Lopriore (Pisa, Italy) Guests: Chiara La Morgia (Bologna, Italy), Michelangelo Mancuso (Pisa, Italy) In this episode, Piervito Lopriore discusses red flags for treatable mitochond...

1 Helmi 25min

Ep. 185: Cognition and movement: A dynamic duo

Ep. 185: Cognition and movement: A dynamic duo

Moderator: Yildiz Degirmenci (Istanbul, Türkiye) Guest: Marit Ruitenberg (Leiden, Netherlands) In this episode, Yıldız Değirmenci speaks with Marit Ruitenberg about the relationship between cognition...

25 Tammi 15min

Ep. 184: Neuromodulation

Ep. 184: Neuromodulation

Moderator: Gabriela Rusin (Kraków, Poland) Guest: Jakub Antczak (Kraków, Poland) In this episode, Gabriela Rusin speaks with Jakub Antczak about non-invasive neuromodulation in neurology. They outlin...

18 Tammi 27min

Ep. 183: Nerve ultrasound

Ep. 183: Nerve ultrasound

Moderator: Gabriela Rusin (Kraków, Poland) Guest: Jakub Antczak (Kraków, Poland) In this episode, Gabriela Rusin speaks with Jakub Antczak about the role of nerve ultrasound in neuromuscular diagnost...

11 Tammi 23min

Ep. 182: Small Fibre Neuropathy

Ep. 182: Small Fibre Neuropathy

Moderator: Caterina Leone (Rome, Italy) Guest: Andrea Truini (Rome, Italy) In this episode, Caterina Leone speaks with Andrea Truini about small fibre neuropathy, a frequently under-recognised condit...

4 Tammi 27min

Ep. 181: Advancements in CIDP Treatment

Ep. 181: Advancements in CIDP Treatment

Moderator: Rob Hadden (London, United Kingdom) Guest: Claudia Sommer (Würzburg, Germany) In this episode, Rob Hadden and Claudia Sommer discuss ongoing challenges in treating CIDP. While most patien...

28 Joulu 202532min

Ep. 180: Cognitive problems in Multiple Sclerosis

Ep. 180: Cognitive problems in Multiple Sclerosis

Moderator: Yilidz Degirmenci (Istanbul, Türkiye) Guest: Hanneke Hulst (Auckland, New Zealand) In this episode, Yıldız Değirmenci speaks with Hanneke Hulst about cognitive problems in multiple sclero...

21 Joulu 202531min

Ep. 179: Language and communication impairment after coma

Ep. 179: Language and communication impairment after coma

Moderator: Alfonso Magliacano (Florence, Italy) Guest: Charlène Aubinet (Liege, Belgium) In this episode, Alfonso Magliacano is joined by Charlène Aubinet to examine how language and communication i...

14 Joulu 202516min

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