TY  - GEN
AU  - Bertelli,M
AU  - Cecchin,S
AU  - Lorusso,L
AU  - Sidoti,V
AU  - Fabbri,A
AU  - Lapucci,C
AU  - Buda,A
AU  - Pandolfo,M
TI  - Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis
SN  - 0031-0808
PY  - 2007///0313
KW  - Adenosine Triphosphatases
KW  - genetics
KW  - Adult
KW  - Aged
KW  - Cytosine
KW  - Exons
KW  - Female
KW  - Genes, Dominant
KW  - Humans
KW  - Italy
KW  - Leucine
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation, Missense
KW  - Proline
KW  - Spastic Paraplegia, Hereditary
KW  - diagnosis
KW  - Spastin
KW  - Thymine
N1  - Publication Type: Case Reports; Journal Article
ER  -