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Paper Details

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Eur J Hum Genet
1
2023
BRAT1, BRAT1-related disorders, NEDCAS, RMFSL, axial hypotonia, cerebellar ataxia, cerebellar atrophy, epilepsy, limb rigidity, microcephaly, multifocal seizure syndrome, neurodevelopmental disorder, patients, rigidity, seizures syndrome, splice variants
Author NameAffiliation
Fowzan S AlkurayaCenter for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Enrico BertiniBambino Gesu Children's Hospital IRCCS
Enrico BertiniBambino Gesu Children's Hospital IRCCS
Maria Roberta CilioDivision of Pediatric Neurology Saint-Luc University Hospital, and Institute of Neuroscience (IoNS), Catholic University of Louvain
Joseph G GleesonUniversity of California San Diego, Rady Children's Institute for Genomic Medicine
Henry HouldenDepartment of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London
Kerstin KutscheInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf
Jennifer N PartlowDivision of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital
Ingrid E SchefferThe University of Melbourne
Ingrid E SchefferRoyal Children's Hospital, Florey Institute and Murdoch Children's Research Institute
Enza Maria ValenteUniversity of Pavia
Enza Maria ValenteNeurogenetics Research Center, IRCCS Mondino Foundation
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre
Christopher A WalshDivision of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital
Christopher A WalshDivision of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital
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