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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2004-6-22
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pubmed:abstractText |
Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused by mutations in the SPG4 gene, which encodes a new member of the AAA (adenosine triphosphatases associated with diverse cellular activities) protein family (spastin). Accumulation of genotype-phenotype correlation is important for better understanding of SPG4-linked hereditary spastic paraplegia.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0003-9942
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
61
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
849-55
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:15210521-Adenosine Triphosphatases,
pubmed-meshheading:15210521-Adolescent,
pubmed-meshheading:15210521-Adult,
pubmed-meshheading:15210521-Amino Acid Sequence,
pubmed-meshheading:15210521-Brain,
pubmed-meshheading:15210521-Child,
pubmed-meshheading:15210521-Female,
pubmed-meshheading:15210521-Genetic Linkage,
pubmed-meshheading:15210521-Humans,
pubmed-meshheading:15210521-Male,
pubmed-meshheading:15210521-Microtubules,
pubmed-meshheading:15210521-Middle Aged,
pubmed-meshheading:15210521-Molecular Sequence Data,
pubmed-meshheading:15210521-Mutation,
pubmed-meshheading:15210521-Pedigree,
pubmed-meshheading:15210521-Spastic Paraplegia, Hereditary
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pubmed:year |
2004
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pubmed:articleTitle |
Hereditary spastic paraplegia: clinical genetic study of 15 families.
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pubmed:affiliation |
Laboratorio di Neurogenetica, Istituto di Ricovero e Cura a Carattere Scientifico, Santa Lucia, Rome, Italy. a.orlacchio@hsantalucia.it
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pubmed:publicationType |
Journal Article,
Comparative Study,
Comment,
Research Support, Non-U.S. Gov't
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