Published in Genome Res on November 01, 1998
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol (2013) 2.30
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. Am J Hum Genet (1999) 1.06
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet (2000) 1.05
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics (2004) 0.88
Current status of human chromosome 14. J Med Genet (2002) 0.84
Basic local alignment search tool. J Mol Biol (1990) 659.07
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet (1985) 87.59
A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature (1996) 27.61
An STS-based map of the human genome. Science (1995) 17.72
A second-generation linkage map of the human genome. Nature (1992) 16.32
A gene map of the human genome. Science (1996) 14.32
Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2. Science (1993) 5.02
A radiation hybrid map of the human genome. Hum Mol Genet (1996) 4.75
An STS-based radiation hybrid map of the human genome. Genome Res (1997) 3.57
A first-generation physical map of the human genome. Nature (1993) 3.40
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet (1994) 3.39
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry (1981) 2.95
Statistical methods for multipoint radiation hybrid mapping. Am J Hum Genet (1991) 2.16
Statistical methods for polyploid radiation hybrid mapping. Genome Res (1995) 2.15
Incorrect specification of marker allele frequencies: effects on linkage analysis. Am J Hum Genet (1993) 2.10
Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet (1993) 1.78
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet (1993) 1.60
Cloning of a novel human prostaglandin receptor with characteristics of the pharmacologically defined EP2 subtype. Mol Pharmacol (1994) 1.56
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet (1995) 1.52
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology (1996) 1.50
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet (1994) 1.49
KAP: a dual specificity phosphatase that interacts with cyclin-dependent kinases. Proc Natl Acad Sci U S A (1994) 1.45
Existence of two gamma subunits of the G proteins in brain. J Biol Chem (1989) 1.43
Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum Mol Genet (1994) 1.16
Molecular cloning and expression of biologically active human glia maturation factor-beta. J Neurochem (1991) 1.15
Multiple mRNA forms of human GTP cyclohydrolase I. Biochem Biophys Res Commun (1992) 1.13
Selected locus and multiple panel models for radiation hybrid mapping. Am J Hum Genet (1996) 1.06
Molecular genetics of familial spastic paraplegia: a multitude of responsible genes. J Neurol Sci (1996) 0.99
Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. Am J Hum Genet (1995) 0.96
Molecular cloning and characterization of human kinectin. Mol Biol Cell (1995) 0.90
A novel human SPS1/STE20 homologue, KHS, activates Jun N-terminal kinase. Oncogene (1997) 0.89
Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3. Hum Genet (1997) 0.84
Familial spastic paraplegia: evidence for a fourth locus. Clin Neurol Neurosurg (1997) 0.76
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The genome sequence of Drosophila melanogaster. Science (2000) 74.32
A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature (1996) 27.61
An STS-based map of the human genome. Science (1995) 17.72
The 1993-94 Généthon human genetic linkage map. Nat Genet (1994) 17.64
A second-generation linkage map of the human genome. Nature (1992) 16.32
Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence. Nat Genet (2000) 14.51
A gene map of the human genome. Science (1996) 14.32
A physical map of 30,000 human genes. Science (1998) 12.43
A physical map of the human genome. Nature (2001) 12.39
The complete genome sequence of the lactic acid bacterium Lactococcus lactis ssp. lactis IL1403. Genome Res (2001) 8.63
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature (1996) 8.02
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med (2009) 7.53
Genome sequence and gene compaction of the eukaryote parasite Encephalitozoon cuniculi. Nature (2001) 7.53
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
Second consensus statement on the diagnosis of multiple system atrophy. Neurology (2008) 7.27
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet (2000) 7.20
Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology (2006) 6.44
Genome sequence of the plant pathogen Ralstonia solanacearum. Nature (2002) 6.23
Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature (1996) 5.44
Mechanisms of evolution in Rickettsia conorii and R. prowazekii. Science (2001) 5.32
An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet (2004) 5.06
Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med (2000) 4.98
A radiation hybrid map of the human genome. Hum Mol Genet (1996) 4.75
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet (1999) 4.74
The ubiquitin pathway in Parkinson's disease. Nature (1998) 4.48
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell (1998) 4.41
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet (1996) 4.16
Genomic exploration of the hemiascomycetous yeasts: 1. A set of yeast species for molecular evolution studies. FEBS Lett (2000) 3.71
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet (1997) 3.68
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet (2001) 3.50
A first-generation physical map of the human genome. Nature (1993) 3.40
Simple, rapid method for assay of aminoglycoside antibiotics. Lancet (1971) 3.35
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell (2001) 3.29
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet (1996) 3.26
A method for constructing radiation hybrid maps of whole genomes. Nat Genet (1994) 3.19
New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci U S A (1998) 3.14
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet (1997) 3.11
The complete genome sequence of Lactobacillus bulgaricus reveals extensive and ongoing reductive evolution. Proc Natl Acad Sci U S A (2006) 3.11
A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature (1986) 3.09
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia. Neurology (2006) 3.07
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet (1995) 3.05
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98
Two interferon mRNAs in human fibroblasts: in vitro translation and Escherichia coli cloning studies. Proc Natl Acad Sci U S A (1980) 2.88
A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science (1985) 2.88
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet (1994) 2.83
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12. Nat Genet (1993) 2.79
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet (1997) 2.77
The complete genome sequence of the murine respiratory pathogen Mycoplasma pulmonis. Nucleic Acids Res (2001) 2.75
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet (2001) 2.72
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet (1994) 2.71
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet (1997) 2.68
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet (2001) 2.66
Mutant WD-repeat protein in triple-A syndrome. Nat Genet (2000) 2.54
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.52
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet (2001) 2.45
[Primary structure of transfer RNA]. Biochimie (1972) 2.43
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet (1993) 2.40
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet (2000) 2.40