Clinical and genetic study of a large SPG4 Italian family

Movement Disorders

Volumn 20, Issue 8, 2005, Pages 1055-1059

  Orlacchio, Antonio ^a,b   Kawarai, Toshitaka ^c   Gaudiello, Fabrizio ^b   Torato, Antonio ^a   Schillaci, Orazio ^b   Stefani, Alessandro ^b   Floris, Roberto ^b   St George Hyslop, Peter H ^c,d   Sorbi, Sandro ^e   Bernardi, Giorgio ^a,b  

^a IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^b TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^c UNIVERSITY OF TORONTO   (Canada)

^d UNIVERSITY HEALTH NETWORK   (Canada)

^e UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Frame shift mutation; Gender differences; Hereditary spastic paraplegia; Intrafamilial phenotypic variations; SPG4

Indexed keywords

SPASTIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; CORRELATION FUNCTION; DISEASE SEVERITY; EXON; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; ITALY; MALE; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SEX DIFFERENCE; SPASTICITY; STATISTICAL SIGNIFICANCE; URINARY TRACT DISEASE;

ADENOSINE TRIPHOSPHATASES; ADULT; AGED; BRAIN MAPPING; CEREBRAL CORTEX; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HUMANS; ITALY; MALE; MIDDLE AGED; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 26444610811     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.20494     Document Type: Article

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