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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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