Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

BMC Neurology

Volumn 10, Issue , 2010, Pages

  Álvarez, Victoria ^a   Sánchez Ferrero, Elena ^a,b   Beetz, Christian ^b   Díaz, Marta ^a   Alonso, Belén ^a   Corao, Ana I ^a   Gámez, Josep ^c   Esteban, Jesús ^d   Gonzalo, Juan F ^d   Pascual Pascual, Samuel I ^e   de Munain, Adolfo L ^f   Moris, Germán ^g   Ribacoba, Renne ^h   Márquez, Celedonio ⁱ   Rosell, Jordi ^j   Marín, Rosario ^k   García Barcina, Maria J ^l   del Castillo, Emilia ^m   Benito, Carmen ^m   Coto, Eliecer ^a  

^a HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^b JENA UNIVERSITY HOSPITAL   (Germany)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^e HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^f HOSPITAL DONOSTIA   (Spain)

^g HOSPITAL SAN AGUSTÍN   (Spain)

^h HOSPITAL ÁLVAREZ BUYLLA   (Spain)

ⁱ HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^j HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^k HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

^l HOSPITAL DE BASURTO   (Spain)

^m HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; NUCLEOTIDE; ADENOSINE TRIPHOSPHATASE; GUANOSINE TRIPHOSPHATASE; SPAST PROTEIN, HUMAN; SPG3A PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; ATL 1 GENE; CHILD; CODON; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; RNA SPLICING; SCHOOL CHILD; SPAIN; SPAST GENE; CAUCASIAN; GENETICS; GENOTYPE; INFANT; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENOTYPE; GTP PHOSPHOHYDROLASES; HUMANS; INFANT; MIDDLE AGED; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 77958469481     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-10-89     Document Type: Article

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