TY  - JOUR
AU  - Alvarez, Victoria
AU  - Sánchez-Ferrero, Elena
AU  - Beetz, Christian
AU  - Díaz, Marta
AU  - Alonso, Belén
AU  - Corao, Ana I
AU  - Gámez, Josep
AU  - Esteban, Jesús
AU  - Gonzalo, Juan F
AU  - Pascual-Pascual, Samuel I
AU  - López de Munain, Adolfo
AU  - Moris, Germán
AU  - Ribacoba, Renne
AU  - Márquez, Celedonio
AU  - Rosell, Jordi
AU  - Marín, Rosario
AU  - García-Barcina, Maria J
AU  - Castillo, Emilia Del
AU  - Benito, Carmen
AU  - Coto, Eliecer
PY  - 2010
UR  - http://hdl.handle.net/10668/1315
T2  - BMC neurology
AB  - BACKGROUNDHereditary Spastic Paraplegias (HSP) are characterized by progressive spasticity and weakness of the lower limbs. At least 45 loci have been identified in families with autosomal dominant (AD), autosomal recessive (AR), or X-linked...
LA  - en
PB  - BioMed Central
KW  - Análisis de mutaciones del ADN
KW  - GTP fosfohidrolasas
KW  - Proteínas de unión al GTP
KW  - Genotipo
KW  - Paraplejía espástica hereditaria
KW  - Adenosina trifosfatasas
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adolescent
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Aged
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Child
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Child::Child, Preschool
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis
KW  - Medical Subject Headings::Named Groups::Persons::Population Groups::Continental Population Groups::European Continental Ancestry Group
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Acid Anhydride Hydrolases::GTP Phosphohydrolases
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Acid Anhydride Hydrolases::GTP Phosphohydrolases::GTP-Binding Proteins
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Infant
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Pedigree
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction
KW  - Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Nervous System Malformations::Hereditary Sensory and Motor Neuropathy::Spastic Paraplegia, Hereditary
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Young Adult
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Acid Anhydride Hydrolases::Adenosine Triphosphatases
TI  - Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
TY  - research article
ER  -