Genetic basis of severe childhood-onset cardiomyopathies C Vasilescu, TH Ojala, V Brilhante, S Ojanen, HM Hinterding, E Palin, ... Journal of the American College of Cardiology 72 (19), 2324-2338, 2018 | 115 | 2018 |
Phosphorylation of Parkin at serine 65 is essential for its activation in vivo TG McWilliams, E Barini, R Pohjolan-Pirhonen, SP Brooks, F Singh, ... Royal Society Open Biology 8 (11), 180108, 2018 | 96 | 2018 |
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia HM Cooper, Y Yang, E Ylikallio, R Khairullin, R Woldegebriel, KL Lin, ... Human molecular genetics 26 (8), 1432-1443, 2017 | 84 | 2017 |
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ L Euro, GA Farnum, E Palin, A Suomalainen, LS Kaguni Nucleic acids research 39 (21), 9072-9084, 2011 | 56 | 2011 |
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders EJH Palin, A Paetau, A Suomalainen Brain 136 (8), 2379-2392, 2013 | 44 | 2013 |
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy S Suriyanarayanan, M Auranen, J Toppila, A Paetau, M Shcherbii, E Palin, ... Neuromolecular medicine 18, 81-90, 2016 | 25 | 2016 |
Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia EJH Palin, AH Hakonen, M Korpela, A Paetau, A Suomalainen Journal of the neurological sciences 315 (1-2), 160-163, 2012 | 19 | 2012 |
SNCA mutation p. Ala53Glu is derived from a common founder in the Finnish population P Pasanen, E Palin, R Pohjolan-Pirhonen, M Pöyhönen, JO Rinne, ... Neurobiology of Aging 50, 168. e5-168. e8, 2017 | 15 | 2017 |
Functional analysis of H. sapiens DNA polymerase γ spacer mutation W748S with and without common variant E1143G EJH Palin, A Lesonen, CL Farr, L Euro, A Suomalainen, LS Kaguni Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1802 (6), 545-551, 2010 | 13 | 2010 |
Genetic background of ataxia in children younger than 5 years in Finland E Ignatius, P Isohanni, M Pohjanpelto, P Lahermo, S Ojanen, V Brilhante, ... Neurology: Genetics 6 (4), e444, 2020 | 9 | 2020 |
Elucidating the genetic background of childhood-onset ataxias E Ignatius, P Isohanni, M Pohjanpelto, E Palin, V Brilhante, S Ojanen, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1417-1417, 2019 | | 2019 |
ATPase-deficient ATAD3A alters mitochondrial dynamics in hereditary spastic paraplegia RA Woldegebriel, HM Cooper, EA Ylikallio, R Khairullin, K Lin, L Euro, ... European Journal of Human Genetics 26, 111-112, 2018 | | 2018 |
Disorders of mitochondrial DNA polymerase: a clinical, biochemical and structural study E Palin Helsingin yliopisto, 2013 | | 2013 |
Biochemical Genetics of the Mitochondrial Replicase: Clustering of Pathogenic Mutations into Five Functional Modules in Human DNA Polymerase γ LS Kaguni, GA Farnum, L Euro, E Palin, A Wartiovaara The FASEB Journal 26, 739.5-739.5, 2012 | | 2012 |
Molecular background of mitochondrial recessive ataxia syndrome, MIRAS EJ Palin, A Hakonen, S Heiskanen, V Juvonen, B Udd, LA Bindoff, ... The FASEB Journal 20 (5), A920-A920, 2006 | | 2006 |
Genetic basis of severe childhood-onset cardiomyopathies: high prevalence of family-specific and de novo pathogenic variants Short title: Genetics of severe childhood … C Vasilescu, TH Ojala, V Brilhante, S Ojanen, HM Hinterding, E Palin, ... | | |
SURVEY AND SUMMARY Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial … L Euro, GA Farnum, E Palin, A Suomalainen, LS Kaguni | | |
ATpase-deficient mitochondrial inner membrane protein ATAD3a disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia R Khairullin, L Euro, R Woldegebriel, S Kaakkola, K Lin, E Ylikallio, ... | | |