Göran Brandberg

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Magnus Bjursell, Henk J. Blom, Jordi Asin Cayuela et al. · The American Journal of Human Genetics · 2011 · 135 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy

Eva Lagberg Arkblad, Niklas Darín, Kerstin Berg et al. · Neuromuscular Disorders · 2006 · 120 citations

Medicine, Neurology, Neuroscience +9

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Tobias B. Haack, Erika Ignatius, Javier Calvo‐Garrido et al. · The American Journal of Human Genetics · 2016 · 120 citations · Full text

Life Sciences, Cell Biology, Neuroscience +12

Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents

Göran Brandberg, Raili Raininko, Orvar Eeg‐Olofsson · European Journal of Paediatric Neurology · 2003 · 101 citations

Medicine, Neurology, Pediatrics +16

3-hydroxydicarboxylic aciduria—a fatty acid oxidation defect with severe prognosis

Lars Hagenfeldt, Ulrika von Döbeln, Elisabeth Holme et al. · The Journal of Pediatrics · 1990 · 72 citations

Life Sciences, Biochemistry, Pathobiology +11