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Journal of Inherited Metabolic Disease|April 7, 2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaCaroline Michot, Laurence Hubert, Norma B Romero, et al.Brain : a Journal of Neurology|January 31, 2023
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegiaSiddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, et al.Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.Proceedings of the National Academy of Sciences of the United States of America|December 28, 2018
Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorderChih-Wei Chen, Hong-Ling Wang, Ching-Wen Huang, et al.American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.Genome Biology|September 29, 2023
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopmentXiaolin Lin, Wei Wang, Mingyi Yang, et al.American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.Plos Genetics|August 28, 2018
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityAsaf Ta-Shma, Rim Hjeij, Zeev Perles, et al.Brain : a Journal of Neurology|August 15, 2018
SYT1-associated neurodevelopmental disorder: a case seriesKate Baker, Sarah L Gordon, Holly Melland, et al.American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.Pageof 22