Research output per year
Research output per year
Personal profile
Fields of Science
- 3112 Neurosciences
- Mitochondrial disease
- neurology
- 3124 Neurology and psychiatry
International and National Collaboration
Publications and projects within past five years.
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Lactate and ammonia measurements during cardiopulmonary exercise testing and its recovery phase-Consideration of age and sex in its interpretation
Ratia, N., Lantto, H., Rotgers, E., Kouri, V-P., Auranen, M., Luukkonen, R. & Piirilä, P., Jul 2023, In: Clinical Physiology and Functional Imaging. 43, 4, p. 278-290 13 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Palu, E., Järvilehto, J., Pennonen, J., Huber, N., Herukka, S-K., Haapasalo, A., Isohanni, P., Tyynismaa, H., Auranen, M. & Ylikallio, E., Oct 2023, In: Neurogenetics. 24, 4, p. 291-301 11 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
Cabrera-Serrano, M., Caccavelli, L., Savarese, M., Vihola, A., Jokela, M., Johari, M., Capiod, T., Madrange, M., Bugiardini, E., Brady, S., Quinlivan, R., Merve, A., Scalco, R., Hilton-Jones, D., Houlden, H., Aydin, H. I., Ceylaner, S., Drewes, S., Vockley, J., Taylor, R. L., & 18 others, Nov 2022, In: Brain : a journal of neurology. 145, 11, p. 3985–3998 14 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders
Sainio, M. T., Aaltio, J., Hyttinen, V., Kortelainen, M., Ojanen, S., Paetau, A., Tienari, P., Ylikallio, E., Auranen, M. & Tyynismaa, H., Jan 2022, In: Acta Neurologica Scandinavica. 145, 1, p. 63-72 10 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
Ranu, N., Laitila, J., Dugdale, H. F., Mariano, J., Kolb, J. S., Wallgren-Pettersson, C., Witting, N., Vissing, J., Vilchez, J. J., Fiorillo, C., Zanoteli, E., Auranen, M., Jokela, M., Tasca, G., Claeys, K. G., Voermans, N. C., Palmio, J., Huovinen, S., Moggio, M., Beck, T. N., & 3 others, 17 Dec 2022, In: Acta Neuropathologica Communications. 10, 1, 14 p., 185.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile