Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway

Human Molecular Genetics

Volumn 25, Issue 21, 2016, Pages 4635-4638

  Edvardson, Shimon ^a   Tian, Guoling ^b   Cullen, Hayley ^c   Vanyai, Hannah ^c   Ngo, Linh ^c   Bhat, Saiuj ^c   Aran, Adi ^d   Daana, Muhannad ^a   Da'amseh, Naderah ^e   Abu Libdeh, Bassam ^e   Cowan, Nicholas J ^b   Heng, Julian Ik Tsen ^c   Elpeleg, Orly ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d HEBREW UNIVERSITY   (Israel)

^e Al Makassed Islamic Charitable Society Hospital   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TUBULIN; BETA TUBULIN; DNA; HETERODIMER; PROTEIN; SHORT HAIRPIN RNA; TBCD PROTEIN; UNCLASSIFIED DRUG; MICROTUBULE ASSOCIATED PROTEIN; TBCD PROTEIN, HUMAN; TUBULIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRACE; BRAIN ATROPHY; CASE REPORT; CAST APPLICATION; CELL MIGRATION; CELL PROLIFERATION; CHILD; CONGENITAL HIP DISLOCATION; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DEVELOPMENTAL DISORDER; DYSTONIA; EMBRYO; ESSENTIAL GENE; FEMALE; FIBROBLAST; GENETIC ASSOCIATION; GENETIC CODE; HOMOZYGOTE; HUMAN; HUMAN CELL; INFANTILE SPASM; INTRACTABLE EPILEPSY; MICROCEPHALY; MISSENSE MUTATION; MOUSE; NONHUMAN; PELVIS OSTEOTOMY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGENY; PROTEIN ASSEMBLY; WILD TYPE; ANIMAL; BRAIN; C57BL MOUSE; CYTOSKELETON; DEMYELINATING DISEASE; EMBRYOLOGY; GENETICS; INFANT; METABOLISM; MICROTUBULE; NEWBORN; PHYSIOLOGY; PROCEDURES; WHOLE EXOME SEQUENCING;

ANIMALS; BRAIN; CYTOSKELETON; FIBROBLASTS; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; INFANT; INFANT, NEWBORN; MICE; MICE, INBRED C57BL; MICROCEPHALY; MICROTUBULE-ASSOCIATED PROTEINS; MICROTUBULES; TUBULIN; WHOLE EXOME SEQUENCING;

EID: 85014814797     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw292     Document Type: Article

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