Works matching AU Hinttala, Reetta

Results: 28

TT2020 meeting report on the 16th Transgenic Technology Meeting.
Published in:
Transgenic Research, 2021, v. 30, n. 1, p. 121, doi. 10.1007/s11248-020-00231-w
By:
- Hinttala, Reetta;
- Kuure, Satu
Publication type:
Article
Transmembrane Prolyl 4-Hydroxylase is a Novel Regulator of Calcium Signaling in Astrocytes.
Published in:
eNeuro, 2021, v. 8, n. 1, p. 1, doi. 10.1523/ENEURO.0253-20.2020
By:
- Byts, Nadiya;
- Sharma, Subodh;
- Laurila, Jenny;
- Paudel, Prodeep;
- Miinalainen, Ilkka;
- Ronkainen, Veli-Pekka;
- Hinttala, Reetta;
- Törnquist, Kid;
- Koivunen, Peppi;
- Myllyharju, Johanna
Publication type:
Article
Progressive External Ophthalmoplegia in Southwestern Finland: A Clinical and Genetic Study.
Published in:
Neuroepidemiology, 2012, v. 38, n. 2, p. 114, doi. 10.1159/000336112
By:
- Martikainen, Mika H.;
- Hinttala, Reetta;
- Röyttä, Matias;
- Jääskeläinen, Satu;
- Wendelin-Saarenhovi, Maria;
- Parkkola, Riitta;
- Majamaa, Kari
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
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
Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration.
Published in:
Molecular Neurodegeneration, 2010, v. 5, p. 1, doi. 10.1186/1750-1326-5-8
By:
- Krüger, Johanna;
- Hinttala, Reetta;
- Majamaa, Kari;
- Remes, Anne M.
Publication type:
Article
Secondary metabolic effects in complex I deficiency.
Published in:
Annals of Neurology, 2005, v. 58, n. 4, p. 544
By:
- Nayla Esteitie;
- Reetta Hinttala;
- Rolf Wibom;
- Helene Nilsson;
- Nicole Hance;
- Karin Naess;
- Kristina Teär‐Fahnehjelm;
- Ulrika Von Döbeln;
- Kari Majamaa;
- Nils‐Göran Larsson
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
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
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
INFRAFRONTIER quality principles in systemic phenotyping.
Published in:
Mammalian Genome, 2022, v. 33, n. 1, p. 120, doi. 10.1007/s00335-021-09892-2
By:
- Ehlich, Hilke;
- Cater, Heather L.;
- Flenniken, Ann M.;
- Goncalves Da Cruz, Isabelle;
- Mura, Anne-Marie;
- Ntafis, Vasileios;
- Raess, Michael;
- Selloum, Mohammed;
- Stoeger, Claudia;
- Suchanova, Sarka;
- Vuolteenaho, Reetta;
- Brown, Steve D. M.;
- Hérault, Yann;
- Hinttala, Reetta;
- Hrabě de Angelis, Martin;
- Kollias, George;
- Kontoyiannis, Dimitris L.;
- Malissen, Bernard;
- McKerlie, Colin;
- Sedláček, Radislav
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
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
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
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
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
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
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
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
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 14, p. 4103, doi. 10.1093/hmg/ddv149
By:
- Hinttala, Reetta;
- Sasarman, Florin;
- Nishimura, Tamiko;
- Antonicka, Hana;
- Brunel-Guitton, Catherine;
- Schwartzentruber, Jeremy;
- Fahiminiya, Somayyeh;
- Majewski, Jacek;
- Faubert, Denis;
- Ostergaard, Elsebet;
- Smeitink, Jan A.;
- Shoubridge, Eric A.
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
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
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
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
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
NHLRC2 expression is increased in idiopathic pulmonary fibrosis.
Published in:
2022
By:
- Kreus, Mervi;
- Lehtonen, Siri;
- Hinttala, Reetta;
- Salonen, Johanna;
- Porvari, Katja;
- Kaarteenaho, Riitta
Publication type:
journal 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