| 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 | A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. (21107874) | Musumeci O.... Toscano A. | 2011 | KIF5A |
| 3 | Hereditary spastic paraplegia and axonal motor neurop athy caused by a novel SPG3A de novo mutation. (19735987) | Fusco C.... Giustina E.D. | 2010 | ATL1 |
| 4 | A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisi an family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. (20593214) | Boukhris A.... Stevanin G. | 2010 | SPG46 |
| 5 | Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families. (18664244) | Loureiro J.L.... Silveira I. | 2009 | SPAST, ATL1 |
| 6 | Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic. (19608203) | Wang Y.G.... Shen L. | 2009 | ATXN3 |
| 7 | Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. (19781397) | Du J.... Tang B.S. | 2009 | REEP1 |
| 8 | Autosomal recessive spastic paraplegia (SPG45) with m ental retardation maps to 10q24.3-q25.1. (19415352) | Dursun U.... Tolun A. | 2009 | SPG45 |
| 9 | 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 |
| 10 | 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 |
| 11 | Loss of spastic paraplegia gene atlastin induces age- dependent death of dopaminergic neurons in Drosophila. (17030474) | Lee Y.... Kim J. | 2008 | ATL1 |
| 12 | Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. (18394578) | Hanein S.... Stevanin G. | 2008 | ZFYVE26 |
| 13 | A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. (18463364) | Dick K.J.... Crosby A.H. | 2008 | FA2H |
| 14 | Spastic paraplegia in Romania: high prevalence of SPG4 mutations. (17971434) | Orlacchio A.... Kawarai T. | 2008 | SPAST |
| 15 | Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. (19056803) | Orthmann-Murphy J.L.... Pareyson D. | 2008 | GJC2 |
| 16 | Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. (18563470) | Tzoulis C.... Bindoff L.A. | 2008 | SPG7 |
| 17 | Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. (18401025) | Orlacchio A.... Kawarai T. | 2008 | SPAST, SPG38 |
| 18 | Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). (18644145) | Schlang K.J.... Stemmler S. | 2008 | SPAST, REEP1, ATL1 |
| 19 | Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. (17322883) | Stevanin G.... Brice A. | 2007 | SPG11 |
| 20 | 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 |
| 21 | SPG4 founder effect in French Canadians with hereditary spastic paraplegia. (17598600) | Meijer I.A.... Rouleau G.A. | 2007 | SPAST |
| 22 | A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. (17646629) | Warnecke T.... Young P. | 2007 | SPG7 |
| 23 | A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. (17515546) | Stevanin G.... Hazan J. | 2007 | SPG32 |
| 24 | NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter. (17166836) | Goytain A.... Quamme G.A. | 2007 | NIPA1 |
| 25 | A novel locus for autosomal dominant 'uncomplicated' hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. (17605047) | Hanein S.... Stevanin G. | 2007 | KIF13B, SPG37 |
| 26 | Functional recovery in rats with ischemic paraplegia after spinal grafting of human spinal stem cells. (17524565) | Cizkova D.... Marsala M. | 2007 | GAD2, GFAP |
| 27 | Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. (16534102) | Elleuch N.... Brice A. | 2006 | SPG7 |
| 28 | Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature. (16102895) | Winner B.... Winkler J. | 2006 | SLC12A6, BSCL2, SPG20 |
| 29 | Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. (16489470) | Blair M.A.... Hedera P. | 2006 | KIF5A |
| 30 | Oxidative DNA damage and activation of c-Jun N-terminal kinase pathway in fibroblasts from patients with hereditary spastic paraplegia. (16388335) | Milano A.... Ungaro P. | 2005 | MAPK8, MAP2K4 |
| 31 | The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. (15537668) | Reid E.... Sanderson C.M. | 2005 | SPAST, CHMP1B, TMED9 |
| 32 | The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. (15742100) | Scarano V.... Filla A. | 2005 | ATL1 |
| 33 | A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. (15635080) | Wilkinson P.A.... Crosby A.H. | 2005 | SPG26 |
| 34 | Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. (15667412) | Nielsen J.E.... Sorensen S.A. | 2004 | SPAST |
| 35 | A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. (15372247) | Warner T.T.... Crosby A.H. | 2004 | CAPN1, ARL2, SNX15 |
| 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 | Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia. (11814680) | Nobile C.... Michelucci R. | 2002 | BAMBI, OPALIN |
| 39 | A novel mutation in the spastin gene in a family with spastic paraplegia. (12023066) | Morita M.... Brown R.H. | 2002 | SPAST |
| 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 | Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. (11685207) | Zhao X.... Fink J.K. | 2001 | ATL1 |
| 42 | Novel syndromic form of X-linked complicated spastic paraplegia. (10982473) | Claes S.... Fryns J.P. | 2000 | SPG16 |
| 43 | Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. (10699187) | Fonknechten N.... Hazan J. | 2000 | SPAST |
| 44 | 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 |
| 45 | X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP). (9489796) | Hodes M.E.... Dlouhy S.R. | 1998 | PLP1 |
| 46 | The EAAT2 (GLT-1) gene in motor neuron disease: absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegia. (9771796) | Meyer T.... Ludolph A.C. | 1998 | SLC1A2 |
| 47 | A new locus for autosomal recessive hereditary spasti c paraplegia maps to chromosome 16q24.3. (9634528) | De Michele G.... Cocozza S. | 1998 | SPG7 |
| 48 | Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. (7987300) | Hentati A.... Siddique T. | 1994 | CYP7B1 |
| 49 | X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. (7920659) | Jouet M.... Kenwrick S. | 1994 | L1CAM |
| 50 | Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. (8252041) | Hazan J.... Weissenbach J. | 1993 | ATL1 |
