Neuromuskulaariklubin kokous

Ohjelma 17.1.2025

9.00–9.30
Welcome coffee and exhibition

9.30–12.00 
Session I: Motor neuron disorders and pediatric neurology
Chair: Manu Jokela

  • 9.30–10.10 Novel neurophysiological methods in motor neuron disorders, Mamede de Carvalho
  • 10.10–10.50 Standards of care in pediatric neuromuscular disorders, Tuire Lähdesmäki
  • 10.50–11.30 ASO treatments in ALS, Björn Oskarsson
  • 11.30–11.40 Discussion
  • 11.40–12.00 Presentation by silver co-operation partners (10 min each)

12.00–13.00      Lunch and exhibition

13.00–14.30     
Session II (five presentations á 15 min and 15 min for discussion)
Chair: Marco Savarese

  • TK2 defiency and experiences with nucleoside treatment, Pirjo Isohanni
  • Infectious myopathies including a case report of acute fatal myositis, Sanna Huovinen
  • Charcot-Marie-Tooth type 1J: clinical and mechanistic insights, Julius Rönkkö
  • Single fibre studies: Unravelling muscle mysteries one fibre at a time, Fanny Rostedt
  • MADD related to sertraline use – a treatable myopathy, Emma Ottela
  • Discussion
  • 14.30–14.50 Presentation by gold co-operation partner

14.50–15.20     
Coffee and exhibition

15.20–16.30     
Session III (10 x á 7 min poster-flash session, max 5 slides per presentation and 1-2 questions)
Chair: Jaakko Sarparanta

  • FGF14exp-related SCA27B in Finland, Johanna Palmio
  • Mutational screening of Distal Myopathy gene ACTN2 reveals an aggregation hot-spot in the actin-binding domain, Johanna Ranta-aho
  • Diagnostic value of custom targeted neuromuscular CGH array for CNV detection after negative exome-based CNV analysis, Manu Jokela
  • Exploring the effects of the epi-drug Remodelin on murine myoblast differentiation, Veronica Sian
  • Pathogenetic mechanisms in troponin T-related nemaline myopathy, Jenni Laitila
  • A treatable disorder mimicking distal neuromyopathy, TBD
  • Pathomechanisms of HNRNPA1 mutations, Jaakko Sarparanta
  • Nutritional status of Finnish nemaline myopathy patients, Vilma-Lotta Lehtokari
  • A homozygous missense variant in TNNT1 causes abnormal isoform expression in a patient with severe nemaline myopathy: A case report, Milla Laarne

Discussion and closing words 16.30–16.45

 Lataa ohjelma (pdf)