Lutz Garbes

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus

Oliver Semler, Lutz Garbes, Katharina Keupp et al. · The American Journal of Human Genetics · 2012 · 236 citations · Full text

Developmental Biology, Genetic Disorder, Medicine +7

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

Anna Kaczmarek, Svenja Schneider, Kathryn J. Swoboda et al. · The American Journal of Human Genetics · 2017 · 215 citations · Full text

Neuroregeneration, Spinal Cord Injury, Physiology +9

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

Bastian Ackermann, Anja Förster, Miriam Jakubik et al. · Human Molecular Genetics · 2010 · 214 citations · Full text

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Lutz Garbes, Kyung‐Ho Kim, Angelika Rieß et al. · The American Journal of Human Genetics · 2015 · 174 citations · Full text

Developmental Biology, Cell Division, Bone Morphogenic Protein +12

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker et al. · The American Journal of Human Genetics · 2013 · 173 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6