M. Barth

<i>MEF2C</i> haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard et al. · Journal of Medical Genetics · 2009 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Propionic acidemia: neonatal versus selective metabolic screening

Sarah C. Grünert, S. Müllerleile, L. de Silva et al. · Journal of Inherited Metabolic Disease · 2011 · 91 citations · Full text

Medicine, Child Health, Pediatrics +13

Mutation analysis in 54 propionic acidemia patients

Jan P. Kraus, Elaine Spector, Sarah Venezia et al. · Journal of Inherited Metabolic Disease · 2011 · 51 citations

Life Sciences, Genetics, Molecular Genetics +13

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.

M. Barth, Chris Ward, Ann Harris et al. · Journal of Medical Genetics · 1994 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain

M. Barth, Anthony H. Fensom, Ann Harris · Human Genetics · 1993 · 46 citations

Life Sciences, Genetics, Molecular Genetics +6