| 1 | Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) muta tions is found more often in males. (21546041) | Proukakis C.... Houlden H. | 2011 | SPAST |
| 2 | Screening for mutations in the phosphatidylinositol 4 -kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia. (21190509) | Cleeter M.... Warner T.T. | 2011 | PI4K2A |
| 3 | Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family. (21321493) | Al-Maawali A.... Yoon G. | 2011 | ATL1 |
| 4 | Hereditary spastic paraplegia and axonal motor neurop athy caused by a novel SPG3A de novo mutation. (19735987) | Fusco C.... Giustina E.D. | 2010 | ATL1 |
| 5 | A genome-scale DNA repair RNAi screen identifies SPG4 8 as a novel gene associated with hereditary spastic paraplegia. (20613862) | SA8abicki M.... Buchholz F. | 2010 | ZFYVE26, SPG11, AP5Z1 |
| 6 | Hereditary spastic paraplegia type 4 (SPG4): clinica l and molecular-genetic characteristics]. (20559269) | Rudenskaia G.E.... Poliakov A.V. | 2010 | SPAST |
| 7 | Point mutations and a large intragenic deletion in SP G11 in complicated spastic paraplegia without thin corpus callosum. (19196735) | Crimella C.... Bassi M.T. | 2009 | SPG11 |
| 8 | Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. (19084844) | Denora P.S.... Santorelli F.M. | 2009 | ZFYVE26, SPG11 |
| 9 | Frequency and phenotype of SPG11 and SPG15 in complic ated hereditary spastic paraplegia. (19917823) | SchA1le R.... Bauer P. | 2009 | ZFYVE26, SPG11 |
| 10 | A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. (18364116) | Zhao G.H.... Tang B.S. | 2008 | REEP1, SPG41 |
| 11 | Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism. (19091982) | Zhao J.... Hedera P. | 2008 | NIPA1 |
| 12 | New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (19034539) | Hewamadduma C.... Shaw P. | 2008 | REEP1 |
| 13 | Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13). (18378094) | Hansen J.... Bross P. | 2008 | HSPD1, CLPP, LONP1 |
| 14 | Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). (18644145) | Schlang K.J.... Stemmler S. | 2008 | SPAST, REEP1, ATL1 |
| 15 | Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. (17322883) | Stevanin G.... Brice A. | 2007 | SPG11 |
| 16 | A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. (17895902) | Mitne-Neto M.... Zatz M. | 2007 | SPAST |
| 17 | The C. elegans homologue of the spastic paraplegia protein, spastin, disassembles microtubules. (17531954) | Matsushita-Ishiodori Y.... Ogura T. | 2007 | SPAST |
| 18 | Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. (17641261) | Ozkinay F.... Ozkinay C. | 2007 | PNP, LOC647275 |
| 19 | Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. (18067136) | Hehr U.... Winkler J. | 2007 | SPG11 |
| 20 | A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family. (17531128) | Li X.H.... Wang Y.M. | 2007 | ATL1 |
| 21 | Clinical features of hereditary spastic paraplegia due to spastin mutation. (16832076) | McDermott C.J.... Shaw P.J. | 2006 | SPAST |
| 22 | Mutation in the epsilon subunit of the cytosolic chaperonin- containing T-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. (16399879) | Bouhouche A.... Yahyaoui M. | 2006 | CCT5, CCT4 |
| 23 | Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia. (15939438) | Scheuer K.H.... Law I. | 2005 | SPAST |
| 24 | Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia. (15891913) | Svenson I.K.... Marchuk D.A. | 2005 | SPAST |
| 25 | Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). (15786464) | Bouslam N.... Stevanin G. | 2005 | GCH1, SPG28 |
| 26 | Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. (16009769) | Park S.Y.... Lee W.Y. | 2005 | SPAST, ATL1 |
| 27 | Hereditary spastic paraplegia: respiratory choke or unactivated substrate? (16239134) | Claypool S.M.... Koehler C.M. | 2005 | SPG7 |
| 28 | New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. (16130112) | Orlacchio A.... Bernardi G. | 2005 | SNX7, SPG29 |
| 29 | Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. (15643603) | Chen S.... Wang Y. | 2005 | NIPA1 |
| 30 | The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function. (15242610) | Trotta N.... Broadie K. | 2004 | SPAST |
| 31 | Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. (15517445) | Abel A.... Hazan J. | 2004 | SPAST, ATL2, ATL1 |
| 32 | Hereditary spastic paraplegia: spastin phenotype and function. (15210518) | Fink J.K.... Rainier S. | 2004 | SPAST |
| 33 | Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. (14623864) | Atorino L.... Casari G. | 2003 | SPG7, AFG3L2 |
| 34 | NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). (14508710) | Rainier S.... Fink J.K. | 2003 | NIPA1 |
| 35 | Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. (12552568) | Proukakis C.... Crosby A.H. | 2003 | SPAST |
| 36 | SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. (12134148) | Patel H.... Crosby A.H. | 2002 | SPG20 |
| 37 | Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree. (12471215) | Starling A.... Zatz M. | 2002 | SPAST |
| 38 | Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. (12124993) | Sauter S.M.... Neesen J. | 2002 | SPAST |
| 39 | Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. (12070243) | Zortea M.... Mostacciuolo M.L. | 2002 | SPG25 |
| 40 | Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. (11898127) | Hansen J.J.... Bross P. | 2002 | HSPD1, HSPE1 |
| 41 | Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2). (9934976) | Hodes M.E.... Dlouhy S.R. | 1999 | PLP1 |
| 42 | Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias. (10417298) | Lossi A.-M.... Martinez F. | 1999 | ATRX |
| 43 | Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation. (12194386) | Fink J.K.... Hedera P. | 1999 | L1CAM |
| 44 | Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. (9973294) | Hedera P.... Fink J.K. | 1999 | KIAA0196 |
| 45 | A new locus for autosomal dominant 'pure' hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. (10441583) | Reid E.... Rubinsztein D.C. | 1999 | KIF5A |
| 46 | Evidence of a third locus in X-linked recessive spastic paraplegia. (9254866) | Steinmuller R.... Muller U. | 1997 | SPG16 |
| 47 | Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. (7645588) | Schrander-Stumpel C.... Fryns J.P. | 1995 | L1CAM |
| 48 | Spastic Paraplegia Type 11 (20301389) | Stevanin G.... Brice A. | 1993 | SPG11 |
| 49 | Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. (8252041) | Hazan J.... Weissenbach J. | 1993 | ATL1 |
| 50 | X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. (1870106) | Fryns J.P.... van den Berghe H. | 1991 | L1CAM |
