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Neurology|June 27, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research DirectionsMarije A B C Asbreuk, Daphne H Schoenmakers, Laura Ann Adang, et al.
Circulation. Genomic and Precision Medicine|August 29, 2019
Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric CardiomyopathyJudith M A Verhagen, Myrthe van den Born, Herma C van der Linde, et al.
American Journal of Human Genetics|January 2, 2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisLucie Gueneau, Richard J Fish, Hanan E Shamseldin, et al.
The Journal of Clinical Investigation|July 19, 2016
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung diseaseSaskia N van der Crabben, Marije P Hennus, Grant A McGregor, et al.
Human Molecular Genetics|September 22, 2018
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delayLynne Rumping, Federico Tessadori, Petra J W Pouwels, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 7, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophyDaphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, et al.
Nature Genetics|June 12, 2012
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessSaskia B Wortmann, Frédéric M Vaz, Thatjana Gardeitchik, et al.
American Journal of Human Genetics|December 20, 2016
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe EncephalopathySamira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
Journal of Inherited Metabolic Disease|June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathwayKimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
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