Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia

Movement Disorders

Volumn 30, Issue 6, 2015, Pages 854-858

  Kancheva, Dahlia ^a,b,c   Chamova, Teodora ^c   Guergueltcheva, Velina ^c   Mitev, Vanio ^c   Azmanov, Dimitar N ^d,e   Kalaydjieva, Luba ^e   Tournev, Ivailo ^c,f   Jordanova, Albena ^a,b,c  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^d PATHWEST LABORATORY MEDICINE   (Australia)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f NEW BULGARIAN UNIVERSITY   (Bulgaria)

Author keywords

H ABC; Hereditary spastic paraplegia; Mosaicism; TUBB4A

Indexed keywords

PROTEIN; TUBB4A PROTEIN; UNCLASSIFIED DRUG; TUBB4A PROTEIN, HUMAN; TUBULIN;

ALLELE; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN DISEASE; BRAIN HYPOMYELINATION; CHILD; CHROMOSOME; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DYSMETRIA; EXOME; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INBREEDING; INFANT; LINKAGE ANALYSIS; MICROTUBULE; MOSAICISM; NERVE CONDUCTION; NEUROIMAGING; PATHOLOGICAL REFLEX; PEDIGREE; PHENOTYPE; POLYNEUROPATHY; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; TENDON REFLEX; ADOLESCENT; BRAIN; DOMINANT GENE; FEMALE; GENETICS; LEG; MALE; MUTATION; MYELIN SHEATH; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; SIBLING;

ADOLESCENT; AGE OF ONSET; ATAXIA; BRAIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENES, DOMINANT; HUMANS; INFANT; LOWER EXTREMITY; MALE; MOSAICISM; MUTATION; MYELIN SHEATH; PEDIGREE; PHENOTYPE; SIBLINGS; SPASTIC PARAPLEGIA, HEREDITARY; TUBULIN;

EID: 84929653503     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26196     Document Type: Article

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