Tunisian hereditary spastic paraplegias: Clinical variability supported by genetic heterogeneity

Clinical Genetics

Volumn 75, Issue 6, 2009, Pages 527-536

  Boukhris, A ^a,b,c,d,e   Stevanin, G ^c,d,e   Feki, I ^a,b   Denora, P ^c,d,f   Elleuch, N ^a,b   Miladi, M I ^a,b   Goizet, C ^c,d   Truchetto, J ^c,d   Belal, S ^g   Brice, A ^c,d,e   Mhiri, Chokri ^a,b  

^a HABIB BOURGUIBA HOSPITAL   (Tunisia)

^b UNIVERSITY OF SFAX   (Tunisia)

^c INSERM   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g Institut National de Neurologie Tunisia   (Tunisia)

Author keywords

Hereditary spastic paraplegia; Phenotype genotype correlations; SPG11; SPG15; SPG4; SPG5

Indexed keywords

GENE PRODUCT; PROTEIN R112X; PROTEIN SPG11; PROTEIN SPG15; PROTEIN SPG4; PROTEIN SPG5; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ASSESSMENT; CONTROLLED STUDY; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC DIFFERENCE; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC TRAIT; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; TUNISIA;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BRAIN; CHILD; CONSANGUINITY; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY; SURAL NERVE; TUNISIA;

EID: 66549102909     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01176.x     Document Type: Article

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