A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
Shereen G. Ghosh(Children’s Institute), Joseph G. Gleeson(Howard Hughes Medical Institute), S. Lane Rutledge(University of Alabama at Birmingham), Cas Simons(Garvan Institute of Medical Research), Maha S. Zaki(National Research Centre), Martin W. Breuss(Children’s Institute), Hoda Tomoum(Ain Shams University), Patrícia Dias(Instituto Superior de Contabilidade e Administração de Coimbra), Atiyeh Eslahi(Ahvaz Jundishapur University of Medical Sciences), Marcello Scala(Hospital for Sick Children), Hamid Galehdari(Shahid Chamran University of Ahvaz), Mahmoud Y. Issa(National Research Centre), Martha Brown(Florida College), Alireza Sedaghat(Ahvaz Jundishapur University of Medical Sciences), Amber Begtrup, Lynn Pais(MACOM (United States)), Kelly Schoch(Duke University), Fatemeh Hadipour, Amy Crunk, Kelly Kennelly(Children's Hospital of Michigan), Alistair T. Pagnamenta(University College London), Marie McDonald(Duke University), Christopher Spencer(Florida College), Leigh Anne Flore(Children's Hospital of Michigan), Pamela Trapane(Florida College), Majid Mojarrad(Mashhad University of Medical Sciences), Guy Helman(Murdoch Children's Research Institute), Jane Juusola, Neda Mazaheri(Shahid Chamran University of Ahvaz), Rebecca Willaert, Raghda Mohamed Hesham Zaitoun(Ain Shams University), Henry Houlden(University College London), Xiaoxu Yang(Children’s Institute), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Vandana Shashi(University of Virginia Medical Center), Gholamreza Shariati(Ahvaz Jundishapur University of Medical Sciences), Peter Bauer(Centogene (Germany)), Christian Beetz(Jena University Hospital), Anna Hurst(University of Alabama at Birmingham), Sofia Quintas(Mashhad University of Medical Sciences), Zahra Hadipour(Shahid Chamran University of Ahvaz), Dana Goodloe(University of Alabama at Birmingham), Chloe Stutterd(Royal Children's Hospital), Laila Selim(Cairo University), Valentina Stanley(Children’s Institute), Vasiliki Karageorgou(Centogene (Germany))
Cited by 18
Related Papers
Genome-wide association study reveals genetic risk underlying Parkinson's disease
|Nature Genetics|2009|2k
Mortality after surgery in Europe: a 7 day cohort study
|The Lancet|2012|1.4k
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
|Nature Genetics|2009|412
A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
|Nature Medicine|1998|349
Spinocerebellar ataxia: an update
|Journal of Neurology|2018|348