TY  - GEN
AU  - Arnoldi,Alessia
AU  - Tonelli,Alessandra
AU  - Crippa,Francesca
AU  - Villani,Gaetano
AU  - Pacelli,Consiglia
AU  - Sironi,Manuela
AU  - Pozzoli,Uberto
AU  - D'Angelo,Maria Grazia
AU  - Meola,Giovanni
AU  - Martinuzzi,Andrea
AU  - Crimella,Claudia
AU  - Redaelli,Francesca
AU  - Panzeri,Chris
AU  - Renieri,Alessandra
AU  - Comi,Giacomo Pietro
AU  - Turconi,Anna Carla
AU  - Bresolin,Nereo
AU  - Bassi,Maria Teresa
TI  - A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
SN  - 1098-1004
PY  - 2008///0416
KW  - ATPases Associated with Diverse Cellular Activities
KW  - Adolescent
KW  - Adult
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Cohort Studies
KW  - DNA Mutational Analysis
KW  - DNA, Complementary
KW  - genetics
KW  - Electron Transport Complex I
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Genes, Recessive
KW  - Haplotypes
KW  - Humans
KW  - Italy
KW  - Male
KW  - Metalloendopeptidases
KW  - Middle Aged
KW  - Mitochondria, Muscle
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Point Mutation
KW  - Sequence Deletion
KW  - Spastic Paraplegia, Hereditary
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.20682
ER  -