Margareta Albåge

Disturbances in Cardiorespiratory Function During Day and Night in Rett Syndrome

Malin Rohdin, Elisabeth Fernell, Maud Eriksson et al. · Pediatric Neurology · 2007 · 74 citations

Medicine, Neurology, Physiology +14

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Emma Tham, Erik A. Eklund, Anna Hammarsjö et al. · European Journal of Human Genetics · 2015 · 39 citations

Life Sciences, Genetics, Molecular Genetics +17

Novel alterations in the epigenetic signature of MeCP2-targeted promoters in lymphocytes of Rett syndrome patients

Tobias Lilja, Karolina Wallenborg, Karin Björkman et al. · Epigenetics · 2013 · 30 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Mutations in <scp>FLVCR2</scp> associated with Fowler syndrome and survival beyond infancy

Malin Kvarnung, Fulya Taylan, Daniel Nilsson et al. · Clinical Genetics · 2015 · 25 citations

Life Sciences, Genetics, Molecular Genetics +14

Early Infantile Onset ‘‘Congenital’’ Rett Syndrome Variants: Swedish Experience Through Four Decades and Mutation Analysis

Saideh Rajaei, Anna Erlandson, Mårten Kyllerman et al. · Journal of Child Neurology · 2011 · 13 citations

Life Sciences, Genetics, Molecular Genetics +17