Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Save this search Download search results Subscribe to news feed Your filters: cql: issn exact "2376-7839" Add to list Journal Article A1 open access Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES Willem De Ridder, Isabelle Nelson, Bob Asselbergh, Boel De Paepe (UGent) , Maud Beuvin, Rabah Ben Yaou, Cécile Masson, Anne Boland, Jean-François Deleuze, Thierry Maisonobe, et al. (2019) NEUROLOGY-GENETICS. 5(2). Add to list Journal Article A1 open access Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT Dimitri Hemelsoet (UGent) , Arnaud Vanlander (UGent) , Joél Smet (UGent) , Elise Vantroys (UGent) , Marjan Acou (UGent) , Ingeborg Goethals (UGent) , Tom Sante (UGent) , Sara Seneca, Björn Menten (UGent) and Rudy Van Coster (UGent) (2018) NEUROLOGY-GENETICS. 4(6). Add to list Journal Article A1 open access Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies Claire G Salter, Danique Beijer, Holly Hardy, Katy ES Barwick, Matthew Bower, Ines Mademan, Peter De Jonghe, Tine Deconinck, Mark A Russell, Meriel M McEntagart, et al. (2018) NEUROLOGY-GENETICS. 4(2). Add to list Journal Article A2 open access Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) Jennifer Hirst, Marianna Madeo, Katrien Smets, James R Edgar, Ludger Schols, Jun Li, Anna Yarrow, Tine Deconinck, Jonathan Baets, Elisabeth Van Aken (UGent) , et al. (2016) NEUROLOGY-GENETICS. 2(5).