Maila Penttinen

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay

Meena Upadhyaya, Martino Ruggieri, Julie Maynard et al. · Human Genetics · 1998 · 179 citations

Life Sciences, Genetics, Molecular Genetics +17

Neuropathic symptoms and findings in women with Fabry disease

Satu Laaksonen, Matias Röyttä, Satu K. Jääskeläinen et al. · Clinical Neurophysiology · 2008 · 86 citations

Medicine, Neurology, Neuropathology +8

The effect of 12‐month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease

Riikka Kalliokoski, Ilkka Kantola, Kari K. Kalliokoski et al. · Journal of Inherited Metabolic Disease · 2006 · 81 citations

Medicine, Cardiology, Clinical Sciences +8

Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion

Vesa Juvonen, Marja Hietala, Markku Päivärinta et al. · Annals of Neurology · 2000 · 79 citations

Life Sciences, Genetics, Neurology +15

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia

Kati Pääkkönen, Stefano Cambiaghi, Giuseppe Novelli et al. · Human Mutation · 2001 · 72 citations · Full text

Medicine, Genetics, Molecular Genetics +15