Works by Uusimaa, Johanna

Results: 50

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

A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.

Published in:

Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1372662

By:

Järvelä, Viivi;
Hamze, Mira;
Komulainen-Ebrahim, Jonna;
Rahikkala, Elisa;
Piispala, Johanna;
Kallio, Mika;
Kangas, Salla M.;
Nickl, Tereza;
Huttula, Marko;
Hinttala, Reetta;
Uusimaa, Johanna;
Medina, Igor;
Immonen, Esa-Ville

Publication type:

Article

Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland.

Published in:

2003

By:

Löppönen T;
Väisänen M;
Luotonen M;
Allinen M;
Uusimaa J;
Lindholm P;
Mäki-Torkko E;
Väyrynen M;
Löppönen H;
Leisti J;
Löppönen, Tuija;
Väisänen, Marja-Leena;
Luotonen, Mirja;
Allinen, Minna;
Uusimaa, Johanna;
Lindholm, Päivi;
Mäki-Torkko, Elina;
Väyrynen, Mirja;
Löppönen, Heikki;
Leisti, Jaakko

Publication type:

journal article

Connexin 26 Mutations and Nonsyndromic Hearing Impairment in Northern Finland.

Published in:

Laryngoscope, 2003, v. 113, n. 10, p. 1758

By:

Tuija Löppönen;
Marja-Leena Väisänen;
Mirja Luotonen;
Minna Allinen;
Johanna Uusimaa;
Päivi Lindholm;
Elina Mäki-Torkko;
Mirja Väyrynen;
Heikki Löppönen;
Jaakko Leisti

Publication type:

Article

Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 8, p. 1595, doi. 10.1111/epi.14459

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Tallaksen, Chantal M. E.;
Brodtkorb, Eylert;
Fiskerstrand, Torunn;
Isohanni, Pirjo;
Uusimaa, Johanna;
Darin, Niklas;
Rahman, Shamima;
Bindoff, Laurence A.

Publication type:

Article

Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features.

Published in:

Epilepsia (Series 4), 2013, v. 54, n. 6, p. 1002, doi. 10.1111/epi.12115

By:

Uusimaa, Johanna;
Gowda, Vasantha;
McShane, Anthony;
Smith, Conrad;
Evans, Julie;
Shrier, Annie;
Narasimhan, Manisha;
O'Rourke, Anthony;
Rajabally, Yusuf;
Hedderly, Tammy;
Cowan, Frances;
Fratter, Carl;
Poulton, Joanna

Publication type:

Article

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.

Published in:

Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1038, doi. 10.1111/j.1528-1167.2008.01544.x

By:

Uusimaa, Johanna;
Hinttala, Reetta;
Rantala, Heikki;
Päiv&ärinta, Markku;
Herva, Riitta;
Röytt, Matias;
Soini, Heidi;
Moilanen, Jukka S.;
Remes, Anne M.;
Hassinen, Ilmo E.;
Majamaa, Kari

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

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 726, doi. 10.1002/jimd.12211

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Tallaksen, Chantal ME;
Brodtkorb, Eylert;
Ostergaard, Elsebet;
Coo, I. F. M;
Pias‐Peleteiro, Leticia;
Isohanni, Pirjo;
Uusimaa, Johanna;
Darin, Niklas;
Rahman, Shamima;
Bindoff, Laurence A.

Publication type:

Article

<italic>NHLRC2</italic> variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

Published in:

Acta Neuropathologica, 2018, v. 135, n. 5, p. 727, doi. 10.1007/s00401-018-1817-z

By:

Uusimaa, Johanna;
Kaarteenaho, Riitta;
Paakkola, Teija;
Tuominen, Hannu;
Karjalainen, Minna K.;
Nadaf, Javad;
Varilo, Teppo;
Uusi-Mäkelä, Meri;
Suo-Palosaari, Maria;
Pietilä, Ilkka;
Hiltunen, Anniina E.;
Ruddock, Lloyd;
Alanen, Heli;
Biterova, Ekaterina;
Miinalainen, Ilkka;
Salminen, Annamari;
Soininen, Raija;
Manninen, Aki;
Sormunen, Raija;
Kaakinen, Mika

Publication type:

Article

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

Published in:

Kidney Diseases, 2022, v. 8, n. 2, p. 148, doi. 10.1159/000521148

By:

Parasyri, Maria;
Brandström, Per;
Uusimaa, Johanna;
Ostergaard, Elsebet;
Hikmat, Omar;
Isohanni, Pirjo;
Naess, Karin;
de Coo, I.F.M.;
Nascimento Osorio, Andrés;
Nuutinen, Matti;
Lindberg, Christopher;
Bindoff, Laurence A.;
Tulinius, Már;
Darin, Niklas;
Sofou, Kalliopi

Publication type:

Article

Mitochondrial hearing loss mutations among Finnish preterm and term-born infants.

Published in:

Audiology Research, 2017, v. 7, n. 2, p. 56, doi. 10.4081/audiores.2017.189

By:

Soini, Heidi K.;
Karjalainen, Minna K.;
Hinttala, Reetta;
Rautio, Arja;
Hallman, Mikko;
Uusimaa, Johanna

Publication type:

Article

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children.

Published in:

Annals of Neurology, 2007, v. 62, n. 3, p. 278, doi. 10.1002/ana.21196

By:

Uusimaa, Johanna;
Moilanen, Jukka S.;
Vainionpää, Leena;
Tapanainen, Päivi;
Lindholm, Päivi;
Nuutinen, Matti;
Löppönen, Tuija;
Mäki-Torkko, Elina;
Rantala, Heikki;
Majamaa, Kari

Publication type:

Article

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

Published in:

Annals of Neurology, 2003, v. 54, n. 5, p. 665

By:

Cristina Ugalde;
Ralf H. Triepels;
Marieke J.H. Coenen;
Lambert P. Van Den Heuvel;
Roel Smeets;
Johanna Uusimaa;
Paz Briones;
Jaume Campistol;
Kari Majamaa;
Jan A.M. Smeitink;
Leo G.J. Nijtmans

Publication type:

Article

Nhlrc2 is crucial during mouse gastrulation.

Published in:

Genesis: The Journal of Genetics & Development, 2022, v. 60, n. 3, p. 1, doi. 10.1002/dvg.23470

By:

Hiltunen, Anniina E.;
Vuolteenaho, Reetta;
Ronkainen, Veli‐Pekka;
Miinalainen, Ilkka;
Uusimaa, Johanna;
Lehtonen, Siri;
Hinttala, Reetta

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

Craniofacial Morphology in Children of Mothers With the m.3243A>G Mutation in Mitochondrial DNA.

Published in:

Cleft Palate Craniofacial Journal, 2010, v. 47, n. 3, p. 234, doi. 10.1597/08-131.1

By:

Pihlajaniemi, Taija L.;
Pirttiniemi, Pertti;
Uusimaa, Johanna;
Majamaa, Kari

Publication type:

Article

Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4288, doi. 10.1093/hmg/ddy298

By:

Paakkola, Teija;
Salokas, Kari;
Miinalainen, Ilkka;
Lehtonen, Siri;
Manninen, Aki;
Kaakinen, Mika;
Ruddock, Lloyd W;
Varjosalo, Markku;
Kaarteenaho, Riitta;
Uusimaa, Johanna

Publication type:

Article

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

Published in:

Journal of Molecular Medicine, 2005, v. 83, n. 10, p. 786, doi. 10.1007/s00109-005-0712-y

By:

Hinttala, Reetta;
Uusimaa, Johanna;
Remes, Anne M.;
Rantala, Heikki;
Hassinen, Ilmo E.;
Majamaa, Kari

Publication type:

Article

A sustainable artificial-intelligence-augmented digital care pathway for epilepsy: Automating seizure tracking based on electroencephalogram data using artificial intelligence.

Published in:

Digital Health, 2024, p. 1, doi. 10.1177/20552076241287356

By:

Keikhosrokiani, Pantea;
Isomursu, Minna;
Uusimaa, Johanna;
Kortelainen, Jukka

Publication type:

Article

Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease.

Published in:

PLoS ONE, 2018, p. 1, doi. 10.1371/journal.pone.0202391

By:

Biterova, Ekaterina;
Ignatyev, Alexander;
Uusimaa, Johanna;
Hinttala, Reetta;
Ruddock, Lloyd W.

Publication type:

Article

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Published in:

Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327

By:

Tallgren, Antti;
Kager, Leo;
O'Grady, Gina;
Tuominen, Hannu;
Körkkö, Jarmo;
Kuismin, Outi;
Feucht, Martha;
Wilson, Callum;
Behunova, Jana;
England, Eleina;
Kurki, Mitja I.;
Palotie, Aarno;
Hallman, Mikko;
Kaarteenaho, Riitta;
Laccone, Franco;
Boztug, Kaan;
Hinttala, Reetta;
Uusimaa, Johanna

Publication type:

Article

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0377-8

By:

Soini, Heidi K.;
Väisänen, Antti;
Kärppä, Mikko;
Hinttala, Reetta;
Kytövuori, Laura;
Moilanen, Jukka S.;
Uusimaa, Johanna;
Majamaa, Kari

Publication type:

Article

Status epilepticus in POLG disease: a large multinational study.

Published in:

Journal of Neurology, 2024, v. 271, n. 8, p. 5156, doi. 10.1007/s00415-024-12463-5

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Brodtkorb, Eylert;
Ostergaard, Elsebet;
de Coo, Irenaeus;
Pias-Peleteiro, Leticia;
Isohanni, Pirjo;
Uusimaa, Johanna;
Majamaa, Kari;
Kärppä, Mikko;
Ortigoza-Escobar, Juan Dario;
Tangeraas, Trine;
Berland, Siren;
Harrison, Emma;
Biggs, Heather;
Horvath, Rita;
Darin, Niklas

Publication type:

Article

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.

Published in:

Developmental Medicine & Child Neurology, 2025, v. 67, n. 2, p. 186, doi. 10.1111/dmcn.16036

By:

Oikarainen, Jaakko H.;
Knuutinen, Oula A.;
Kangas, Salla M.;
Rahikkala, Elisa J.;
Pokka, Tytti M.‐L.;
Moilanen, Jukka S.;
Hinttala, Reetta M.;
Vieira, Päivi M.;
Uusimaa, Johanna M.;
Suo‐Palosaari, Maria H.

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

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Published in:

BMC Neurology, 2010, v. 10, p. 29, doi. 10.1186/1471-2377-10-29

By:

Komulainen, Tuomas;
Hinttala, Reetta;
Kärppä, Mikko;
Pajunen, Leila;
Finnilä, Saara;
Tuominen, Hannu;
Rantala, Heikki;
Hassinen, Ilmo;
Majamaa, Kari;
Uusimaa, Johanna

Publication type:

Article

Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.

Published in:

2007

By:

Hinttala, Reetta;
Karttunen, Vesa;
Karttunen, Ari;
Herva, Riitta;
Uusimaa, Johanna;
Remes, Anne M.

Publication type:

Letter

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

Published in:

Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051

By:

Komulainen‐Ebrahim, Jonna;
Kangas, Salla M.;
López‐Martín, Estrella;
Feyma, Timothy;
Scaglia, Fernando;
Martínez‐Delgado, Beatriz;
Kuismin, Outi;
Suo‐Palosaari, Maria;
Carr, Lucinda;
Hinttala, Reetta;
Kurian, Manju A.;
Uusimaa, Johanna

Publication type:

Article

The impact of gender, puberty, and pregnancy in patients with POLG disease.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 2019, doi. 10.1002/acn3.51199

By:

Hikmat, Omar;
Naess, Karin;
Engvall, Martin;
Klingenberg, Claus;
Rasmussen, Magnhild;
Tallaksen, Chantal M. E.;
Samsonsen, Christian;
Brodtkorb, Eylert;
Ostergaard, Elsebet;
de Coo, Rene;
Pias‐Peleteiro, Leticia;
Isohanni, Pirjo;
Uusimaa, Johanna;
Darin, Niklas;
Rahman, Shamima;
Bindoff, Laurence A.

Publication type:

Article

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia.

Published in:

British Journal of Haematology, 2019, v. 185, n. 2, p. 354, doi. 10.1111/bjh.15494

By:

Järviaho, Tekla;
Zachariadis, Vasilios;
Tesi, Bianca;
Chiang, Samuel;
Bryceson, Yenan T.;
Möttönen, Merja;
Niinimäki, Riitta;
Bang, Benedicte;
Rahikkala, Elisa;
Taylan, Fulya;
Uusimaa, Johanna;
Harila‐Saari, Arja;
Nordgren, Ann

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

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein.

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 444, doi. 10.1111/cge.14203

By:

Kraatari‐Tiri, Minna;
Soikkonen, Leila;
Myllykoski, Matti;
Jamshidi, Yalda;
Karimiani, Ehsan G.;
Komulainen‐Ebrahim, Jonna;
Kallankari, Hanna;
Mignot, Cyril;
Depienne, Christel;
Keren, Boris;
Nougues, Marie‐Christine;
Alsahlawi, Zahra;
Romito, Antonio;
Martini, Javier;
Toosi, Mehran B.;
Carroll, Christopher J.;
Tripolszki, Kornelia;
Bauer, Peter;
Uusimaa, Johanna;
Bertoli‐Avella, Aida M.

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

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 2, p. 184, doi. 10.1038/ejhg.2013.112

By:

Uusimaa, Johanna;
Evans, Julie;
Smith, Conrad;
Butterworth, Anna;
Craig, Kate;
Ashley, Neil;
Liao, Chunyan;
Carver, Janet;
Diot, Alan;
Macleod, Lorna;
Hargreaves, Iain;
Al-Hussaini, Abdulrahman;
Faqeih, Eissa;
Asery, Ali;
Al Balwi, Mohammed;
Eyaid, Wafaa;
Al-Sunaid, Areej;
Kelly, Deirdre;
van Mourik, Indra;
Ball, Sarah

Publication type:

Article

Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.

Published in:

Molecular Medicine, 2020, v. 26, n. 1, p. 1, doi. 10.1186/s10020-020-00245-4

By:

Hiltunen, Anniina E.;
Kangas, Salla M.;
Ohlmeier, Steffen;
Pietilä, Ilkka;
Hiltunen, Jori;
Tanila, Heikki;
McKerlie, Colin;
Govindan, Subashika;
Tuominen, Hannu;
Kaarteenaho, Riitta;
Hallman, Mikko;
Uusimaa, Johanna;
Hinttala, Reetta

Publication type:

Article

Analysis of human brain tissue derived from DBS surgery.

Published in:

Translational Neurodegeneration, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s40035-022-00297-y

By:

Kangas, Salla M.;
Teppo, Jaakko;
Lahtinen, Maija J.;
Suoranta, Anu;
Ghimire, Bishwa;
Mattila, Pirkko;
Uusimaa, Johanna;
Varjosalo, Markku;
Katisko, Jani;
Hinttala, Reetta

Publication type:

Article

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 20, p. 4521, doi. 10.1093/hmg/dds294

By:

Elo, Jenni M.;
Yadavalli, Srujana S.;
Euro, Liliya;
Isohanni, Pirjo;
Götz, Alexandra;
Carroll, Christopher J.;
Valanne, Leena;
Alkuraya, Fowzan S.;
Uusimaa, Johanna;
Paetau, Anders;
Caruso, Eric M.;
Pihko, Helena;
Ibba, Michael;
Tyynismaa, Henna;
Suomalainen, Anu

Publication type:

Article

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2543, doi. 10.1093/hmg/ddl176

By:

Kervinen, Marko;
Hinttala, Reetta;
Helander, Heli M.;
Kurki, Sari;
Uusimaa, Johanna;
Finel, Moshe;
Majamaa, Kari;
Hassinen, Ilmo E.

Publication type:

Article

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.

Published in:

Cells (2073-4409), 2021, v. 10, n. 11, p. 3158, doi. 10.3390/cells10113158

By:

Zárybnický, Tomáš;
Heikkinen, Anne;
Kangas, Salla M.;
Karikoski, Marika;
Martínez-Nieto, Guillermo Antonio;
Salo, Miia H.;
Uusimaa, Johanna;
Vuolteenaho, Reetta;
Hinttala, Reetta;
Sipilä, Petra;
Kuure, Satu

Publication type:

Article

Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.

Published in:

Acta Ophthalmologica (1755375X), 2016, v. 94, n. 1, p. 83, doi. 10.1111/aos.12897

By:

Widgren, Paula;
Hurme, Anri;
Falck, Aura;
Keski ‐ Filppula, Riikka;
Remes, Anne M;
Moilanen, Jukka;
Majamaa, Kari;
Kervinen, Marko;
Uusimaa, Johanna

Publication type:

Article

Leber hereditary optic neuropathy mutations and toxic-genetic optic neuropathy - Authors' response.

Published in:

Acta Ophthalmologica (1755375X), 2014, v. 92, n. 1, p. e78, doi. 10.1111/aos.12089

By:

Kervinen, Marko;
Widgren, Paula;
Saarela, Ville;
Uusimaa, Johanna;
Remes, Anne

Publication type:

Article

Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia.

Published in:

Acta Ophthalmologica (1755375X), 2013, v. 91, n. 7, p. 630, doi. 10.1111/j.1755-3768.2012.02506.x

By:

Korkiamäki, Paula;
Kervinen, Marko;
Karjalainen, Karoliina;
Majamaa, Kari;
Uusimaa, Johanna;
Remes, Anne M.

Publication type:

Article

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.

Published in:

2017

By:

Kytövuori, Laura;
Kärppä, Mikko;
Tuominen, Hannu;
Uusimaa, Johanna;
Saari, Markku;
Hinttala, Reetta;
Majamaa, Kari

Publication type:

journal article

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Published in:

Pediatric Nephrology, 2006, v. 21, n. 2, p. 182, doi. 10.1007/s00467-005-2116-1

By:

Laakkonen, Hanne;
Lönnqvist, Tuula;
Uusimaa, Johanna;
Qvist, Erik;
Valanne, Leena;
Nuutinen, Matti;
Ala-Houhala, Marja;
Majamaa, Kari;
Jalanko, Hannu;
Holmberg, Christer

Publication type:

Article

A multicenter study on Leigh syndrome: disease course and predictors of survival.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-52

By:

Sofou, Kalliopi;
De Coo, Irenaeus F. M.;
Isohanni, Pirjo;
Ostergaard, Elsebet;
Naess, Karin;
Meirleir, Linda De;
Tzoulis, Charalampos;
Uusimaa, Johanna;
De Angst, Isabell B.;
Lönnqvist, Tuula;
Pihko, Helena;
Mankinen, Katariina;
Bindoff, Laurence A.;
Tulinius, Már;
Darin, Niklas

Publication type:

Article

A multicenter study on Leigh syndrome: disease course and predictors of survival.

Published in:

2014

By:

Sofou, Kalliopi;
De Coo, Irenaeus F M;
Isohanni, Pirjo;
Ostergaard, Elsebet;
Naess, Karin;
De Meirleir, Linda;
Tzoulis, Charalampos;
Uusimaa, Johanna;
De Angst, Isabell B;
Lönnqvist, Tuula;
Pihko, Helena;
Mankinen, Katariina;
Bindoff, Laurence A;
Tulinius, Már;
Darin, Niklas

Publication type:

journal article

SIRT5 is under the control of PGC-1α and AMPK and is involved in regulation of mitochondrial energy metabolism.

Published in:

FASEB Journal, 2014, v. 28, n. 7, p. 3225, doi. 10.1096/fj.13-245241

By:

Buler, Marcin;
Aatsinki, Sanna-Mari;
Izzi, Valerio;
Uusimaa, Johanna;
Hakkola, Jukka

Publication type:

Article

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Published in:

2010

By:

F.^O'Toole, John;
Liu, Yangjian;
Davis, Erica E.;
Westlake, Christopher J.;
Attanasio, Massimo;
Otto, Edgar A.;
Seelow, Dominik;
Nurnberg, Gudrun;
Becker, Christian;
Nuutinen, Matti;
Kärppä, Mikko;
Ignatius, Jaakko;
Uusimaa, Johanna;
Pakanen, Salla;
Jaakkola, Elisa;
van^den^Heuvel, Lambertus P.;
Fehrenbach, Henry;
Wiggins, Roger;
Goyal, Meera;
Zhou, Weibin

Publication type:

journal article