D. Simon

发表

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype

C. Rooryck, D. Lacombe, C. Baumann, 2016, European Journal of Human Genetics.

The "Campus Syndrome" in Pigs: Neurological, Neurophysiological, and Neuropharmacological Characterization of a New Genetic Animal Model of High-Frequency Tremor

W. Löscher, A. Richter, J. Wissel, 1995, Experimental Neurology.

BAFF synthesis by rheumatoid synoviocytes is positively controled by integrin α5β1 stimulation and negatively regulated by TNF-α and TLR ligands. Alsaleh

M. Koenig, A. Gansmuller, A. Appert-Collin, 2007 .

Week in The Journal F Cellular / Molecular cAMP and a Retinal Clock

D. Hommer, D. Storm, M. Koenig, 2004 .

Inheritance and genetic mapping of the Campus syndrome (CPS): a high-frequency tremor disease in pigs.

B. Harlizius, D. Simon, D. Waberski, 1999, The Journal of heredity.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.

An improved DNA test for bovine leucocyte adhesion deficiency.

B. Harlizius, D. Simon, J. Pohlenz, 1996, Research in veterinary science.

Isolation of the bovine uridine monophosphate synthase gene to identify the molecular basis of DUMPS in cattle

B. Harlizius, D. Simon, S. Schöber, 1996 .

DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene.

D. Simon, S. Schöber, B. Schwenger, 1993, Genomics.

High‐resolution array‐CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

B. Gilbert-Dussardier, J. Toutain, C. Rooryck, 2014, Pigment cell & melanoma research.

A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.

N. Chassaing, B. Gilbert-Dussardier, C. Rooryck, 2010, Human molecular genetics.

Friedreich ataxia: the oxidative stress paradox.

M. Koenig, P. Golik, V. Procaccio, 2005, Human molecular genetics.

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

J. Melki, M. Koenig, P. Rustin, 2001, Nature Genetics.

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

C. Rooryck, D. Lacombe, D. Simon, 2009, European journal of medical genetics.

Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients

D. Lacombe, D. Simon, B. Arveiler, 2007, European Journal of Human Genetics.

Polymorphic CA-microsatellites for the integration of the bovine genetic and physical map

J. Masabanda, W. Barendse, R. Fries, 2009, Mammalian Genome.

Testing and improving experimental parameters for the use of low molecular weight targets in array‐CGH experiments

Isabelle Guisle, D. Lacombe, D. Simon, 2006, Human mutation.

Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.

M. Koenig, P. Rustin, A. Gansmuller, 2004, Human molecular genetics.

Sequence of the cDNA encoding bovine uridine monophosphate synthase.

D. Simon, B. Schwenger, S. Schoeber, 1993, Gene.

Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia

M. Koenig, P. Rustin, A. Gansmuller, 2004, The Journal of Neuroscience.

Dinucleotide repeat polymorphism at the bovine HAUT1 and HAUT14 loci.

B. Harlizius, D. Simon, U. Thieven, 2009, Animal Genetics.

Analysis of Post-transcriptional Regulations by a Functional, Integrated, and Quantitative Method*

F. Moreau-Gaudry, F. Sagliocco, D. Simon, 2009, Molecular & Cellular Proteomics.

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

C. Rooryck, D. Lacombe, E. Colin, 2014, The Journal of investigative dermatology.