Vlatka Mejaški‐Bošnjak

Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts

Peter A. J. Leegwater, Bao Qiang Yuan, J. Van der Steen et al. · The American Journal of Human Genetics · 2001 · 264 citations · Full text

Neurobiology Of Disease, Neurological Disorder, Medicine +9

<i>S</i> -adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism

Ivo Barić, Ksenija Fumić, B. Glenn et al. · Proceedings of the National Academy of Sciences · 2004 · 220 citations · Full text

<scp>MRI</scp>classification system (<scp>MRICS</scp>) for children with cerebral palsy: development, reliability, and recommendations

Kate Himmelmann, Veronka Horber, Javier de la Cruz et al. · Developmental Medicine & Child Neurology · 2016 · 218 citations · Full text

<i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Francesco Brancati, Miriam Iannicelli, Lorena Travaglini et al. · Human Mutation · 2008 · 105 citations · Full text

Joubert Syndrome, Liver Involvement, Genetics +17

<scp>l</scp>-2-Hydroxyglutaric Aciduria: Pattern of MR Imaging Abnormalities in 56 Patients

Marjan E. Steenweg, Gajja S. Salomons, Graziella Uziel et al. · Radiology · 2009 · 98 citations