Sari Kiuru‐Enari

Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in<i>alpha2‐macroglobulin</i>and<i>tau</i>: A population‐based autopsy study

Maarit Tanskanen, Terhi Peuralinna, Tuomo Polvikoski et al. · Annals of Medicine · 2008 · 578 citations · Full text

Medicine, Neurology, Pathology +11

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Anu Suomalainen, Jenni M. Elo, Kirsi H. Pietiläinen et al. · The Lancet Neurology · 2011 · 421 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +14

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

Marlinde L. van den Boogaard, Richard J.L.F. Lemmers, Judit Balog et al. · The American Journal of Human Genetics · 2016 · 272 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Clinical features of facioscapulohumeral muscular dystrophy 2

Jessica C. de Greef, Richard J.L.F. Lemmers, Pilar Camaño et al. · Neurology · 2010 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

<i>CHCHD10</i> variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

Mari Auranen, Emil Ylikallio, Maria Shcherbii et al. · Neurology Genetics · 2015 · 100 citations · Full text

Medicine, Genetics, Neurology +15