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Paper Details

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Neuron
27
2021
Autosomal-recessive cerebellar hypoplasia, Microcephaly, Mouse, Neurodegenerative Pontocerebellar Hypoplasia, PCHM, PPIL1, PRP17, Patients, Peptidyl, Peptidyl-Prolyl Isomerase Like-1, Pre-RNA Processing-17, Prolyl, Spliceosomal Genes, ataxia, brain disorders, high GC-content introns, mice, microcephaly, neurodegeneration, neurodegenerative condition, neuron, patient, pontocerebellar hypoplasia, proline, spliceosomal proline isomerase
Author NameAffiliation
Patrick M GaffneyOklahoma Medical Research Foundation
Heidi L RehmBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Heidi L RehmBroad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Ghayda M MirzaaCenter for Integrative Brain Research, Seattle Children's Research Institute
David A D ParryLeeds Institute of Medical Research, University of Leeds
Clare V LoganLeeds Institute of Medical Research, University of Leeds
Colin A JohnsonLeeds Institute of Medical Research, University of Leeds
Mahmoud Y IssaClinical Genetics Department, National Research Centre
Maha S ZakiClinical Genetics Department, National Research Centre
Joseph G GleesonUniversity of California, USA Rady Children's Institute for Genomic Medicine
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