Päivi Vieira

Succinate‐CoA ligase deficiency due to mutations in <i>SUCLA2</i> and <i>SUCLG1</i>: phenotype and genotype correlations in 71 patients

Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen et al. · Journal of Inherited Metabolic Disease · 2015 · 87 citations

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

Christine P. Diggle, Stacey J. Sukoff Rizzo, Michael Popiolek et al. · The American Journal of Human Genetics · 2016 · 80 citations · Full text

Biallelic Mutations, Neurological Disorder, Striatal Pde10a +10

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Mitja Kurki, Elmo Saarentaus, Olli Pietiläinen et al. · Nature Communications · 2019 · 55 citations · Full text

Diagnostic value of serum biomarkers <scp>FGF21</scp> and <scp>GDF15</scp> compared to muscle sample in mitochondrial disease

Jenni M. Lehtonen, Mari Auranen, Niklas Darín et al. · Journal of Inherited Metabolic Disease · 2020 · 54 citations · Full text

Molecular analysis of the <i>GNPTAB </i>and <i>GNPTG </i>genes in 13 patients with mucolipidosis type II or type III – identification of eight novel mutations

Marisa Encarnação, Lúcia Lacerda, Romain Da Costa et al. · Clinical Genetics · 2009 · 53 citations

Immunodeficiencies, Genetics, Glycobiology +23