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)