dr. Marc D'Hooghe

Neurologie

Erfelijke stofwisselingsziekten

De stofwisseling speelt een cruciale rol in het lichaam. Erfelijke aandoeningen kunnen stofwisselingsprocessen op zeer verschillende wijze verstoren. Hoewel de meeste metabole aandoeningen op zich zeldzaam zijn, vormen ze als geheel toch een belangrijke groep. … Lees meer

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

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.
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/

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/

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/
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