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Johanna Uusimaa
Johanna Uusimaa
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Bestätigte E-Mail-Adresse bei oulu.fi
Titel
Zitiert von
Zitiert von
Jahr
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
A Suomalainen, JM Elo, KH Pietiläinen, AH Hakonen, K Sevastianova, ...
The Lancet Neurology 10 (9), 806-818, 2011
4622011
A multicenter study on Leigh syndrome: disease course and predictors of survival
K Sofou, IFM De Coo, P Isohanni, E Ostergaard, K Naess, L De Meirleir, ...
Orphanet journal of rare diseases 9, 1-16, 2014
2402014
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms
B Tesi, J Davidsson, M Voss, E Rahikkala, TD Holmes, SCC Chiang, ...
Blood, The Journal of the American Society of Hematology 129 (16), 2266-2279, 2017
2052017
FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders
JM Lehtonen, S Forsström, E Bottani, C Viscomi, OR Baris, H Isoniemi, ...
Neurology 87 (22), 2290-2299, 2016
2012016
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy
JM Elo, SS Yadavalli, L Euro, P Isohanni, A Götz, CJ Carroll, L Valanne, ...
Human molecular genetics 21 (20), 4521-4529, 2012
1962012
Antipyretic agents for preventing recurrences of febrile seizures: randomized controlled trial
T Strengell, M Uhari, R Tarkka, J Uusimaa, R Alen, P Lautala, H Rantala
Archives of pediatrics & adolescent medicine 163 (9), 799-804, 2009
1732009
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
JF O’Toole, Y Liu, EE Davis, CJ Westlake, M Attanasio, EA Otto, D Seelow, ...
The Journal of clinical investigation 120 (3), 791-802, 2010
1502010
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A> G mutation in children
J Uusimaa, JS Moilanen, L Vainionpää, P Tapanainen, P Lindholm, ...
Annals of Neurology: Official Journal of the American Neurological …, 2007
1442007
SIRT5 is under the control of PGC‐1α and AMPK and is involved in regulation of mitochondrial energy metabolism
M Buler, SM Aatsinki, V Izzi, J Uusimaa, J Hakkola
The FASEB Journal 28 (7), 3225-3237, 2014
1372014
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene
C Ugalde, RH Triepels, MJH Coenen, LP Van Den Heuvel, R Smeets, ...
Annals of Neurology: Official Journal of the American Neurological …, 2003
1252003
Homozygous W748S mutation in the POLG1 gene in patients with juvenile‐onset Alpers syndrome and status epilepticus
J Uusimaa, R Hinttala, H Rantala, M Päivärinta, R Herva, M Röyttä, ...
Epilepsia 49 (6), 1038-1045, 2008
972008
Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model
T Komulainen, T Lodge, R Hinttala, M Bolszak, M Pietilä, P Koivunen, ...
Toxicology 331, 47-56, 2015
962015
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
R Carrozzo, D Verrigni, M Rasmussen, R De Coo, H Amartino, M Bianchi, ...
Journal of inherited metabolic disease 39, 243-252, 2016
932016
Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders
J Uusimaa, AM Remes, H Rantala, L Vainionpää, R Herva, K Vuopala, ...
Pediatrics 105 (3), 598-603, 2000
932000
Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome
C Ugalde, R Hinttala, S Timal, R Smeets, RJT Rodenburg, J Uusimaa, ...
Molecular genetics and metabolism 90 (1), 10-14, 2007
892007
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
J Uusimaa, J Evans, C Smith, A Butterworth, K Craig, N Ashley, C Liao, ...
European Journal of Human Genetics 22 (2), 184-191, 2014
822014
Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy
CP Diggle, SJS Rizzo, M Popiolek, R Hinttala, JP Schülke, MA Kurian, ...
The American Journal of Human Genetics 98 (4), 735-743, 2016
752016
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
J Uusimaa, H Jungbluth, C Fratter, G Crisponi, L Feng, M Zeviani, ...
Journal of medical genetics 48 (10), 660-668, 2011
712011
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients
K Sofou, IFM de Coo, E Ostergaard, P Isohanni, K Naess, L De Meirleir, ...
Journal of medical genetics 55 (1), 21-27, 2018
652018
Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations …
J Uusimaa, S Finnilä, AM Remes, H Rantala, L Vainionpää, ...
Pediatrics 114 (2), 443-450, 2004
652004
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