Hereditary spastic paraplegia

[1] The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease [J]. EMBO JOURNAL, 1998, 17 (16) : 4837 - 4847

[2] Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia [J]. NEUROGENETICS, 2001, 3 (02) : 91 - 97

[3] Identification and characterization of AFG3L2, a novel paraplegin-related gene [J]. GENOMICS, 1999, 59 (01) : 51 - 58

[4] Borthwick GM, 1999, ANN NEUROL, V46, P787, DOI 10.1002/1531-8249(199911)46:5<787::AID-ANA17>3.0.CO

[5] 2-8

[6] Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia [J]. HUMAN MOLECULAR GENETICS, 2000, 9 (02) : 275 - 282

[7] Hereditary spastic paraplegia caused by mutations in the SPG4 gene [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (10) : 771 - 776

[8] Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p [J]. NEUROLOGY, 2000, 54 (07) : 1510 - 1517

[9] Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion [J]. SCIENCE, 1996, 271 (5254) : 1423 - 1427

[10] Expression of a Cu,Zn superoxide dismutase typical of familial amyotrophic lateral sclerosis induces mitochondrial alteration and increase of cytosolic Ca2+ concentration in transfected neuroblastoma SH-SY5Y cells [J]. FEBS LETTERS, 1997, 414 (02) : 365 - 368

[1] The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease [J]. EMBO JOURNAL, 1998, 17 (16) : 4837 - 4847

[2] Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia [J]. NEUROGENETICS, 2001, 3 (02) : 91 - 97

[3] Identification and characterization of AFG3L2, a novel paraplegin-related gene [J]. GENOMICS, 1999, 59 (01) : 51 - 58

[4] Borthwick GM, 1999, ANN NEUROL, V46, P787, DOI 10.1002/1531-8249(199911)46:5<787::AID-ANA17>3.0.CO

[5] 2-8

[6] Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia [J]. HUMAN MOLECULAR GENETICS, 2000, 9 (02) : 275 - 282

[7] Hereditary spastic paraplegia caused by mutations in the SPG4 gene [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (10) : 771 - 776

[8] Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p [J]. NEUROLOGY, 2000, 54 (07) : 1510 - 1517

[9] Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion [J]. SCIENCE, 1996, 271 (5254) : 1423 - 1427

[10] Expression of a Cu,Zn superoxide dismutase typical of familial amyotrophic lateral sclerosis induces mitochondrial alteration and increase of cytosolic Ca2+ concentration in transfected neuroblastoma SH-SY5Y cells [J]. FEBS LETTERS, 1997, 414 (02) : 365 - 368