Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

Journal of Neurology

Volumn 260, Issue 10, 2013, Pages 2516-2522

  Kumar, Kishore R ^a,b   Blair, Nicholas F ^a   Vandebona, Himesha ^a   Liang, Christina ^a   Ng, Karl ^a   Sharpe, David M ^c   Grünewald, Anne ^b   Gölnitz, Uta ^d   Saviouk, Viatcheslav ^d   Rolfs, Arndt ^d,e   Klein, Christine ^b   Sue, Carolyn M ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY OF LÜBECK   (Germany)

^c PRINCE OF WALES HOSPITAL   (Australia)

^d CENTOGENE AG   (Germany)

^e UNIVERSITY OF ROSTOCK   (Germany)

Author keywords

CYP7B1; Hereditary spastic paraplegia; Next generation sequencing; SPAST; SPG4; SPG7

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; ATAXIA; AUSTRALIA; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; CLINICAL TRIAL; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE TARGETING; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY OPTIC ATROPHY; HUMAN; INFANT; INHERITANCE; MALE; NEXT GENERATION SEQUENCING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SPAST GENE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AUSTRALIA; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84886092216     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-7008-x     Document Type: Article

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