D'Hooghe, Marc Archieven

oktober 2016 Neurologie dr. D'Hooghe, Marc

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

Lees Verder

mei 2010 Neonatologie, Neurologie, Radiologie en Medische Beeldvorming dr. Coenegrachts, Kenneth, prof. dr. Cornette, Luc, dr. D'Hooghe, Marc

Medical mystery: intrauteriene groeiretardatie

Bij een zwangere dame bemerkt de gynaecoloog een belangrijke intrauteriene groeiretardatie. Antenatale echografie kan geen definitief uitsluitsel geven over de ernst en het type van placentaire abnormaliteit die wordt vermoed.

Lees Verder

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/

Short case report: Aicardi syndrome.

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

Fluoxetine in progressive multiple sclerosis (FLUOX-PMS): study protocol for a randomized controlled trial.

Trials 2014;15(1):37.
01/01/2014

» http://www.ncbi.nlm.nih.gov/pubmed/

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/

X-Linked Sideroblastic Anemia and Ataxia.

Seattle (WA): University of Washington, Seattle; 1993-2014.
03/04/2014

» 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

dr. Marc D'Hooghe

Neurologie

Artikels [ 2 resultaten ]

Presentaties [ 10 resultaten ]

New treatment strategies in pediatric neurology.

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

Clues to Molecular Genetic Diagnosis in Malformations of Cortical Development.

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

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

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.

Round Table on sulthiame in childhood epilepsy.

Parallel session on Fetal and Neonatal Neurology.

Short case report: Aicardi syndrome.

Update Mitochondriale Aandoeningen.

Publicaties [ 23 resultaten ]

Fluoxetine in progressive multiple sclerosis (FLUOX-PMS): study protocol for a randomized controlled trial.

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

X-Linked Sideroblastic Anemia and Ataxia.

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

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

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.

Characteristics of early MRI in children and adolescents with vanishing white matter.

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

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

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

Ataxia-Telangiectasia: classic type and milder variants

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

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

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

X-linked sideroblastic anaemia and ataxia

Sint-Janscolloqium op 23/11/2010. Rode vlaggen en vuistregels in de kinderneurologie.

Sint-Janscolloqium: het neurologisch onderzoek.

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

Stafvergadering Neurologie AZ Sint-Jan, Brugge 04/06/2010. Amplitude-integrated EEGs in the Newborn.

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

Treatment and long term outcome in west syndrome: The clinical reality. A multicentre follow up study.

Fetal MRI of the placenta in extreme early onset IUGR

Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders.