Marc D'Hooghe, Marc

dr. Marc D'Hooghe

Neurologie

New treatment strategies in pediatric neurology.

Gent
24/04/2015

ee broers met progressieve ataxie na 20-jarige leeftijd t.g.v. een recent ontdekte genetische aandoening.

UZ Gent
26/03/2015

Clues to Molecular Genetic Diagnosis in Malformations of Cortical Development.

Brugge
30/01/2015

Pathogenic mutations in the mitochondrial alanyl tRNA synthetase (AARS2) gene of an adult patient.

Finland
15-19/06/2014

The search for the unknown gene: from symptomatology to causative gene defect. Recent advances in neurogenetics, illustrated with practice examples.

AZ Sint-Jan te Brugge
21/02/2014

Development of an S-G2 micronucleus assay for the detection of in vitro chromosomal radiosensitivity in high-risk women subjected to early mammography screening for breast cancer.

Abstract on 18th World Congress on Advances in Oncology and 16th International Symposium on Molecular Medicine" October 2013 , Crete, Greece.
10/2013

Round Table on sulthiame in childhood epilepsy.

10th European Paediatric Neurology Society Congress 2013 - 25-28 September 2013 – Brussels.
25-28/09/2013

» http://www.ncbi.nlm.nih.gov/pubmed/

Parallel session on Fetal and Neonatal Neurology.

10th European Paediatric Neurology Society Congress 2013 - 25-28 September 2013 – Brussels.
25-28/09/2013

» http://www.ncbi.nlm.nih.gov/pubmed/

Update Mitochondriale Aandoeningen.

Wetenschappelijke stafvergadering van de dienst neurologie van het AZ Sint-Jan te Brugge op vrijdag 29/3/2013.
29/03/2013

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

Neurology. 2014 May 13;82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.
09/04/2014

» http://www.ncbi.nlm.nih.gov/pubmed/

Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.

Neuromolecular Med. 2013 Sep;15(3):447-57. doi: 10.1007/s12017-013-8231-4. Epub 2013 Apr 30.
15/09/2013

» http://www.ncbi.nlm.nih.gov/pubmed/

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.
07/2013

» http://www.ncbi.nlm.nih.gov/pubmed/

Update of the Pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

Hum Mutat. 2012 Aug;33(8):1161-5. doi: 10.1002/humu.22108.
29.05.2013

» http://www.ncbi.nlm.nih.gov/sites/

Autumn meeting of the Belgian Society of Pediatric Neurology:‘Spinal cord and plexus’

op 19 oktober 2012 in Novotel Ieper Flanders Fields
19.10.2012

» http://www.ncbi.nlm.nih.gov/sites/

Methylation defect in imprinted genes detected in patients with an Albright’s hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

PLoS One. 2012;7(6):e38579. doi: 10.1371/journal.pone.0038579
05/06/2012

» http://www.ncbi.nlm.nih.gov/pubmed/

Methylation defect in imprinted genes detected in patients with an Albright’s hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

PLoS One. 2012;7(6):e38579.
05.06.2012

» http://www.ncbi.nlm.nih.gov/sites/

X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation.

Eur J Paediatr Neurol. 2012 Nov;16(6):730-5. doi: 10.1016/j.ejpn.2012.02.003.
06.03.2012

» http://www.ncbi.nlm.nih.gov/sites/

Intra-uteriene groeiretardatie, failure to thrive, convulsies en psychomotorische retardatie: het Wolf-Hirschhornsyndroom

Tijdschr. voor Geneeskunde, 68, nr. 18, 2012, 879-884 - doi: 10.2143/TVG.68.18.2001255
01.01.2012

» http://www.ncbi.nlm.nih.gov/sites/

Autumn meeting of the Belgian Society of Pediatric Neurology:‘Cerebro-vascular disorders in children’

op 18 november 2011 in Cliniques universitaires Saint-Luc, UCL, Brussel
18.11.2011

» http://www.ncbi.nlm.nih.gov/sites/

the Autumn Meeting of the Belgian Society of Pediatric Neurology (BSPN) Brussel 19/11/2010. New Insights in Neonatal Neurology.

Hôpital Erasme, ULB, Brussel
19.11.2010

» http://www.ncbi.nlm.nih.gov/sites/

The Spring Meeting of the Belgian Society of Pediatric Neurology BSPN)Gent 23/04/2010). Molecular Targeting Therapy in Central Nervous System Disorders.

Gent, Belgium
23.04.2010

» http://www.ncbi.nlm.nih.gov/sites/
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