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A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)
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Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population
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Long-term effectiveness and safety of lemborexant in adults with insomnia disorder: 12-month results from sunrise-2
Yardley, J., Kärppä, M., Inoue, Y., Pinner, K., Perdomo, C., Filippov, G., Kubota, N., Moline, M.
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Long-term effect of lemborexant on fatigue in subjects with insomnia disorder: patient-reported outcome from the 6-month placebo-controlled treatment period of the phase 3 study sunrise-2
Yardley, J., Moline, M., Pinner, K., Perdomo, C., Fillipov, G., Kärppä, M.
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Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene
Remes, A.M, Hinttala, R, Kärppä, M, Soini, H, Takalo, R, Uusimaa, J, Majamaa, K
Published in Parkinsonism & related disorders (01.12.2008)
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G.P.126 - A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)
Palmio, J., Penttilä, S., Moilanen, J., Kärppä, M., Udd, B.
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Epidemiology of A3243G, the Mutation for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes: Prevalence of the Mutation in an Adult Population
Majamaa, Kari, Moilanen, Jukka S., Uimonen, Seija, Remes, Anne M., Salmela, Pasi I., Kärppä, Mikko, Majamaa-Voltti, Kirsi A.M., Rusanen, Harri, Sorri, Martti, Peuhkurinen, Keijo J., Hassinen, Ilmo E.
Published in American journal of human genetics (01.08.1998)
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P.3.11 Atypical phenotypes in titinopathies explained by second titin mutations and compound heterozygosity
Evila, A, Vihola, A, Sarparanta, J, Raheem, O, Sandell, S, Eymard, B, Illa, I, Rojas-Garcia, R, Hankiewicz, K, Negrao, L, Lopponen, T, Nokelainen, P, Karppa, M, Penttila, S, Screen, M, Suominen, T, Richard, I, Hackman, P, Udd, B
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Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome
Remes, A M, Kärppä, M, Rusanen, H, Majamaa, K, Hassinen, I E, Moilanen, J S, Uimonen, S, Sorri, M, Salmela, P I, Karvonen, S-L, Karvonen, S-L
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Beiske, A.G., Naess, H., Aarseth, J.H., Andersen, O., Elovaara, I., Farkkila, M., Hansen, H.J., Mellgren, S.I., Sandberg-Wollheim, M., Sorensen, P.S., Myhr, K.M.
Published in Multiple sclerosis (01.04.2007)
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Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small‐fiber and mixed neuropathy
Samuelsson, Kristin, Radovic, Ana, Press, Rayomand, Auranen, Mari, Ylikallio, Emil, Tyynismaa, Henna, KäRppä, Mikko, Veteläinen, Matilda, Peltola, Niina, Mellgren, Svein Ivar, Mygland, Åse, Tallaksen, Chantal, Andersen, Henning, Terkelsen, Astrid Juhl, Fontain, Freja, Hietaharju, Aki
Published in Muscle & nerve (01.03.2019)
Published in Muscle & nerve (01.03.2019)
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Screening for Fabry disease and hereditary ATTR amyloidosis in idiopathic small fiber and mixed neuropathy
Hietaharju, Aki J., Samuelsson, Kristin, Radovic, Ana, Press, Rayomand, Auranen, Mari, Ylikallio, Emil, Tyynismaa, Henna, Kärppä, Mikko, Veteläinen, Matilda, Peltola, Niina, Mellgren, Svein I., Mygland, Åse, Tallaksen, Chantal, Andersen, Henning, Terkelsen, Astrid J., Fontain, Freja
Published in MOLECULAR GENETICS AND METABOLISM (01.02.2019)
Published in MOLECULAR GENETICS AND METABOLISM (01.02.2019)
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Conference Proceeding
Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA
KÄRPPÄ, Mikko, SYRJÄLÄ, Pirjo, TOLONEN, Uolevi, MAJAMAA, Kari
Published in Journal of neurology (01.02.2003)
Published in Journal of neurology (01.02.2003)
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Identical TTN gene A-band mutation causing HMERF occurs in different European populations
Palmio, JM, Evila, A, Karppa, M, Tasca, G, Quinlivan, R, Xiang, F, Edstrom, L, Hackman, P, Udd, B
Published in NEUROMUSCULAR DISORDERS (2012)
Published in NEUROMUSCULAR DISORDERS (2012)
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Conference Proceeding