Lutz Garbes
Koeln, NW 50931, Germany
Last Updated: 09/26/2026
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Found 13 publications
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Journal: American journal of human genetics
Published: May 24, 2019
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Journal: American journal of human genetics
Published: November 07, 2016
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
Journal: American journal of human genetics
Published: September 26, 2014
RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
Journal: Breast cancer research : BCR
Published: December 24, 2013
A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.
Journal: Journal of child neurology
Published: December 17, 2013
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.
Journal: Neuromuscular disorders : NMD
Published: August 28, 2013
A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: July 21, 2013
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Journal: American journal of human genetics
Published: March 19, 2013
Histone acetylation as a potential therapeutic target in motor neuron degenerative diseases.
Journal: Current pharmaceutical design
Published: January 10, 2013
How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches.
Journal: Current opinion in genetics & development
Published: November 16, 2012
VPA response in SMA is suppressed by the fatty acid translocase CD36.
Journal: Human molecular genetics
Published: October 19, 2012
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
Journal: European journal of human genetics : EJHG
Published: October 18, 2012
Last Updated: 09/26/2026