Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

Neurogenetics

Volumn 11, Issue 4, 2010, Pages 379-389

  Southgate, Laura ^a   Dafou, Dimitra ^a   Hoyle, Jacqueline ^a   Li, Nan ^g   Kinning, Esther ^b   Critchley, Peter ^b   Németh, Andrea H ^c   Talbot, Kevin ^d   Bindu, Parayil S ^e   Sinha, Sanjib ^e   Taly, Arun B ^e   Raghavendra, Seetharam ^f   Müller, Ferenc ^g   Maher, Eamonn R ^g   Trembath, Richard C ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e NATIONAL INSTITUTE OF MENTAL HEALTH AND NEUROSCIENCES   (India)

^f Kanva Diagnostic Centre   (India)

^g UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

Hereditary spastic paraplegia; Molecular genetics; SPG11; Zebrafish studies

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE;

ACCPN GENE; ARTICLE; ASIAN; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; EMBRYO; FAMILY; FEMALE; GENE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; IN SITU HYBRIDIZATION; MALE; NERVE CELL DIFFERENTIATION; NERVE FIBER; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPG11 GENE; SPG21 GENE; ZEBRA FISH;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CARRIER PROTEINS; FEMALE; HUMANS; INDIA; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; ZEBRAFISH;

DANIO RERIO;

EID: 78650074123     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-010-0243-8     Document Type: Article

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