Constanze Gallenmüller

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Rebecca Schüle, Sarah Wiethoff, Peter Martus et al. · Annals of Neurology · 2016 · 298 citations

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Matthis Synofzik, Katrien Smets, Martial Mallaret et al. · Brain · 2016 · 123 citations · Full text

Neurological Disorder, Genetics, Large Multi-centre Study +16

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

Angela Abicht, Marina Dusl, Constanze Gallenmüller et al. · Human Mutation · 2012 · 116 citations

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

Constanze Gallenmüller, Wolfgang Müller‐Felber, Marina Dusl et al. · Neuromuscular Disorders · 2013 · 58 citations · Full text

Rare Diseases, Developmental Biology, Genetic Disorder +5

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

Felix Distelmaier, Tobias B. Haack, Claudia B. Catarino et al. · Neurogenetics · 2015 · 53 citations · Full text

Cardiomyopathy, Mendelian Disorder, Mrpl44 Mutations +9