L. Garbes

发表

Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy

S. Grellscheid, B. Wirth, M. Jędrzejowska, 2008, Human Genetics.

Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy

B. Wirth, B. Melegh, L. Garbes, 2014, Neuromuscular Disorders.

Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

C. Kim, M. Warman, P. Nürnberg, 2019, American journal of human genetics.

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

B. Wirth, R. Heller, M. Riessland, 2012, European Journal of Human Genetics.

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

S. Bohlander, K. Kagan, Filippo Beleggia, 2015, American journal of human genetics.

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

A. Hoischen, B. Wirth, A. Hart, 2017, American journal of human genetics.

A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the SMN Gene

F. Heppner, B. Wirth, H. Goebel, 2014, Journal of child neurology.

Gene SMN Rearrangements in the A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5 q-SMA With Complex

F. Heppner, B. Wirth, H. Goebel, 2013 .

VPA response in SMA is suppressed by the fatty acid translocase CD36.

John T. Dimos, B. Wirth, R. Heller, 2013, Human molecular genetics.

RAD51Cdeletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

A. Meindl, R. Schmutzler, H. Hellebrand, 2013, Breast Cancer Research.

The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1: Is it really a reversed sotos syndrome?

A. Jauch, K. Devriendt, T. Neuhann, 2013, American journal of medical genetics. Part A.

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.

S. Bohlander, B. Wirth, P. Eysel, 2012, American journal of human genetics.

How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches.

B. Wirth, M. Riessland, L. Garbes, 2013, Current opinion in genetics & development.

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

B. Wirth, I. Blumcke, E. Hahnen, 2010, Human molecular genetics.

LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate.

B. Wirth, I. Blümcke, R. Heller, 2009, Human molecular genetics.

Histone acetylation as a potential therapeutic target in motor neuron degenerative diseases.

B. Wirth, M. Riessland, L. Garbes, 2013, Current pharmaceutical design.

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

J. Veltman, B. Wirth, R. Sinke, 2013, American journal of human genetics.

Histone deacetylase inhibitors for the epigenetic therapy of proximal spinal muscular atrophy

L. Garbes, 2010 .

RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

A. Meindl, R. Schmutzler, H. Hellebrand, 2013, Breast Cancer Research.

A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset

B. Wollnik, E. Schoenau, L. Garbes, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.