Arnoldi, Alessia <br/><br/>
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.  [electronic resource] 

 -  Human mutation  Apr 2008 
 - 522-31 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.20682  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>ATPases Associated with Diverse Cellular Activities<br/>Adolescent<br/>Adult<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Codon, Nonsense<br/>Cohort Studies<br/>DNA Mutational Analysis<br/>DNA, Complementary--genetics<br/>Electron Transport Complex I--genetics<br/>Female<br/>Fibroblasts--metabolism<br/>Genes, Recessive<br/>Haplotypes<br/>Humans<br/>Italy<br/>Male<br/>Metalloendopeptidases--genetics<br/>Middle Aged<br/>Mitochondria, Muscle--metabolism<br/>Molecular Sequence Data<br/>Mutation<br/>Pedigree<br/>Point Mutation<br/>Sequence Deletion<br/>Spastic Paraplegia, Hereditary--genetics