Marcel du Moulin

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen et al. · The American Journal of Human Genetics · 2011 · 343 citations · Full text

Medicine, Genetics, Pediatrics +13

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

David Coelho, Jaeseung Kim, Isabelle R. Miousse et al. · Nature Genetics · 2012 · 237 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

Hölger Thiele, Marcel du Moulin, Katarzyna Barczyk et al. · Human Mutation · 2010 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Home-Based Exercise Training as Maintenance after Outpatient Pulmonary Rehabilitation

Marcel du Moulin, Karin Taube, Karl Wegscheider et al. · Respiration · 2008 · 59 citations

Medicine, Rehabilitation Medicine, Physical Therapy +16

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

René Santer, Marcel du Moulin, Tatevik Shahinyan et al. · Orphanet Journal of Rare Diseases · 2016 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17