Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia

Journal of Neurology

Volumn 261, Issue 11, 2014, Pages 2165-2169

  Halevy, Ayelet ^a,b   Lerer, Israela ^c   Cohen, Rony ^a,b   Kornreich, Liora ^a,b   Shuper, Avinoam ^a,b   Gamliel, Moria ^c   Zimerman, Bat El ^c   Korabi, Isam ^c   Meiner, Vardiella ^c   Straussberg, Rachel ^a,b   Lossos, Alexander ^c  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Cerebellar atrophy; EXOSC3; HSP; PCH; Pontocerebellar hypoplasia; Spastic paraplegia

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CISTERNA MAGNA; COGNITIVE DEFECT; EXOME; EXOSOME COMPONENT 3 GENE; FAMILY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; MALE; PONS; PONTOCEREBELLAR HYPOPLASIA TYPE 1; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING; SPASTIC PARAPLEGIA; YOUNG ADULT; AMINO ACID SEQUENCE; GENETICS; MOLECULAR GENETICS; MUTATION; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY;

EXOSC3 PROTEIN, HUMAN; EXOSOME MULTIENZYME RIBONUCLEASE COMPLEX; RNA BINDING PROTEIN;

AMINO ACID SEQUENCE; CHILD; EXOSOME MULTIENZYME RIBONUCLEASE COMPLEX; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RNA-BINDING PROTEINS; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84920937373     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7457-x     Document Type: Article

References (8)

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