Marc D’Hooghe
AZ Sint-Jan(BE)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Muscle metabolism and nutrition, Epilepsy research and treatment, DNA Repair Mechanisms, Mitochondrial Function and Pathology
Most-Cited Works
- → Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy(2006)369 cited
- → The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies(2016)350 cited
- → Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease(2005)270 cited
- → UEFA expert group statement on nutrition in elite football. Current evidence to inform practical recommendations and guide future research(2020)264 cited
- → Phenotype and genotype in 101 males with X-linked creatine transporter deficiency(2013)162 cited
- → CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders(2007)156 cited
- → Steroids in intractable childhood epilepsy: Clinical experience and review of the literature(2005)95 cited
- → Treatment and long term outcome in West syndrome: The clinical reality. A multicentre follow up study(2010)89 cited
- → A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy(2017)88 cited
- → 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(2012)75 cited