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Identification of a circulatory and oocytic avian apolipoprotein D.
Published in:
Molecular Reproduction & Development, 1995, v. 42, n. 4, p. 443, doi. 10.1002/mrd.1080420411
By:
- Vieira, Amandio V.;
- Lindstedt, Ken;
- Schneider, Wolfgang J.;
- Vieira, Päivi M.
Publication type:
Article
Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot–Marie–Tooth Neuropathy CMTX3.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 9, p. 1, doi. 10.1002/mgg3.70014
By:
- Rahikkala, Elisa;
- Komulainen‐Ebrahim, Jonna;
- Tolonen, Jussi‐Pekka;
- Vorimo, Sandra;
- Suo‐Palosaari, Maria;
- Vieira, Päivi;
- Piispala, Johanna;
- Uusimaa, Johanna;
- Pylkäs, Katri;
- Mantere, Tuomo
Publication type:
Article
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-08262-y
By:
- Kurki, Mitja I.;
- Saarentaus, Elmo;
- Pietiläinen, Olli;
- Gormley, Padhraig;
- Lal, Dennis;
- Kerminen, Sini;
- Torniainen-Holm, Minna;
- Hämäläinen, Eija;
- Rahikkala, Elisa;
- Keski-Filppula, Riikka;
- Rauhala, Merja;
- Korpi-Heikkilä, Satu;
- Komulainen-Ebrahim, Jonna;
- Helander, Heli;
- Vieira, Päivi;
- Männikkö, Minna;
- Peltonen, Markku;
- Havulinna, Aki S.;
- Salomaa, Veikko;
- Pirinen, Matti
Publication type:
Article
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate‐induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 11, p. 2125, doi. 10.1111/epi.14568
By:
- Hynynen, Johanna;
- Pokka, Tytti;
- Komulainen‐Ebrahim, Jonna;
- Myllynen, Päivi;
- Kärppä, Mikko;
- Pylvänen, Laura;
- Kälviäinen, Reetta;
- Sokka, Arja;
- Jyrkilä, Aino;
- Lähdetie, Jaana;
- Haataja, Leena;
- Mäkitalo, Anna;
- Ylikotila, Pauli;
- Eriksson, Kai;
- Haapala, Piia;
- Ansakorpi, Hanna;
- Hinttala, Reetta;
- Vieira, Päivi;
- Majamaa, Kari;
- Rantala, Heikki
Publication type:
Article
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Published in:
Clinical Genetics, 2023, v. 104, n. 6, p. 686, doi. 10.1111/cge.14416
By:
- Hautakangas, Milla‐Riikka;
- Widgren, Paula;
- Korpelainen, Paavo;
- Kangas, Salla M.;
- Komulainen, Tuomas;
- Vieira, Päivi;
- Rahikkala, Elisa;
- Pylkäs, Katri;
- Tuominen, Hannu;
- Kokkonen, Hannaleena;
- Miinalainen, Ilkka;
- Nadaf, Javad;
- Majewski, Jacek;
- Hinttala, Reetta;
- Uusimaa, Johanna
Publication type:
Article
Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype.
Published in:
Clinical Genetics, 2020, v. 98, n. 5, p. 493, doi. 10.1111/cge.13827
By:
- Knuutinen, Oula;
- Pyle, Angela;
- Suo‐Palosaari, Maria;
- Duff, Jennifer;
- Froukh, Tawfiq;
- Lehesjoki, Anna‐Elina;
- Kangas, Salla M.;
- Cassidy, James;
- Maraqa, Latifa;
- Keski‐Filppula, Riikka;
- Kokkonen, Hannaleena;
- Uusimaa, Johanna;
- Horvath, Rita;
- Vieira, Päivi
Publication type:
Article
Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.
Published in:
Developmental Medicine & Child Neurology, 2021, v. 63, n. 9, p. 1066, doi. 10.1111/dmcn.14884
By:
- Knuutinen, Oula A;
- Oikarainen, Jaakko H;
- Suo‐Palosaari, Maria H;
- Kangas, Salla M;
- Rahikkala, Elisa J;
- Pokka, Tytti M‐L;
- Moilanen, Jukka S;
- Hinttala, Reetta M L;
- Vieira, Päivi M;
- Uusimaa, Johanna M
Publication type:
Article
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 223, doi. 10.1002/jimd.12446
By:
- Vieira, Päivi;
- Nagy, Irina I.;
- Rahikkala, Elisa;
- Väisänen, Marja‐Leena;
- Latva, Katariina;
- Kaunisto, Kari;
- Valmari, Pekka;
- Keski‐Filppula, Riikka;
- Haanpää, Maria K.;
- Sidoroff, Virpi;
- Miettinen, Päivi J.;
- Arkkola, Tuula;
- Ojaniemi, Marja;
- Nuutinen, Matti;
- Uusimaa, Johanna;
- Myllynen, Päivi
Publication type:
Article
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 469, doi. 10.1002/jimd.12307
By:
- Lehtonen, Jenni M.;
- Auranen, Mari;
- Darin, Niklas;
- Sofou, Kalliopi;
- Bindoff, Laurence;
- Hikmat, Omar;
- Uusimaa, Johanna;
- Vieira, Päivi;
- Tulinius, Már;
- Lönnqvist, Tuula;
- Coo, Irenaeus F.;
- Suomalainen, Anu;
- Isohanni, Pirjo
Publication type:
Article
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders.
Published in:
Movement Disorders, 2022, v. 37, n. 11, p. 2197, doi. 10.1002/mds.29182
By:
- Pérez‐Dueñas, Belén;
- Gorman, Kathleen;
- Marcé‐Grau, Anna;
- Ortigoza‐Escobar, Juan D.;
- Macaya, Alfons;
- Danti, Federica R.;
- Barwick, Katy;
- Papandreou, Apostolos;
- Ng, Joanne;
- Meyer, Esther;
- Mohammad, Shekeeb S.;
- Smith, Martin;
- Muntoni, Francesco;
- Munot, Pinki;
- Uusimaa, Johanna;
- Vieira, Päivi;
- Sheridan, Eammon;
- Guerrini, Renzo;
- Cobben, Jan;
- Yilmaz, Sanem
Publication type:
Article

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