Andrea Gangfuß

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone et al. · Nature Medicine · 2021 · 149 citations · Full text

Amyotrophic Lateral Sclerosis, Neurological Disorder, Excess Sphingolipid Synthesis +3

X-linked myotubular myopathy

M. Annoussamy, C. Lilien, Teresa Gidaro et al. · Neurology · 2019 · 88 citations · Full text

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Jorge Alonso‐Pérez, Lidia González‐Quereda, Luca Bello et al. · Brain · 2020 · 74 citations · Full text

Genetic Epidemiology, Human Polymorphism, Pathology +29

Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)

Andrea Gangfuß, Andreas Hentschel, Lorena Heil et al. · Molecular Genetics and Metabolism · 2022 · 22 citations

Somatic Variant, Genetic Disorder, Medicine +9

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo <scp><i>MEIS2</i></scp> mutation: A clinical longitudinal study

Andrea Gangfuß, Gökhan Yigit, Janine Altmüller et al. · American Journal of Medical Genetics Part A · 2021 · 20 citations · Full text