TY  - JOUR
AU  - Colin, Estelle
AU  - Daniel, Jens
AU  - Ziegler, Alban
AU  - Wakim, Jamal
AU  - Scrivo, Aurora
AU  - Haack, Tobias B
AU  - Khiati, Salim
AU  - Denomme, Anne-Sophie
AU  - Amati-Bonneau, Patrizia
AU  - Charif, Majida
AU  - Procaccio, Vincent
AU  - Reynier, Pascal
AU  - Aleck, Kyrieckos A
AU  - Botto, Lorenzo D
AU  - Herper, Claudia Lena
AU  - Kaiser, Charlotte Sophia
AU  - Nabbout, Rima
AU  - N'Guyen, Sylvie
AU  - Mora-Lorca, Jose Antonio
AU  - Assmann, Birgit
AU  - Christ, Stine
AU  - Meitinger, Thomas
AU  - Strom, Tim M
AU  - Prokisch, Holger
AU  - Miranda-Vizuete, Antonio
AU  - Hoffmann, Georg F
AU  - Lenaers, Guy
AU  - Bomont, Pascale
AU  - Liebau, Eva
AU  - Bonneau, Dominique
PY  - 2016
DO  - 10.1016/j.ajhg.2016.06.030
UR  - http://hdl.handle.net/10668/10376
T2  - American journal of human genetics
AB  - Via whole-exome sequencing, we identified rare autosomal-recessive variants in UBA5 in five children from four unrelated families affected with a similar pattern of severe intellectual deficiency, microcephaly, movement disorders, and/or early-onset...
LA  - en
PB  - Cell Press
KW  - Animals
KW  - Caenorhabditis elegans
KW  - Cholinergic Neurons
KW  - Fibroblasts
KW  - Intellectual Disability
KW  - Microcephaly
KW  - Mutation
KW  - Proteins
KW  - Ubiquitin-Activating Enzymes
KW  - Zebrafish Proteins
KW  - Age of Onset
KW  - Alleles
KW  - Brain Diseases
KW  - Brain Mapping
KW  - Caenorhabditis elegans Proteins
KW  - Child
KW  - Child, Preschool
KW  - Endoplasmic Reticulum
KW  - Epilepsy
KW  - Exome
KW  - Female
KW  - Genes, Recessive
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Movement Disorders
KW  - Synaptic Transmission
KW  - Ubiquitin
KW  - Ubiquitins
KW  - Zebrafish
TI  - Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
TY  - research article
VL  - 99
ER  -