-
1
-
-
0030977483
-
Pure hereditary spastic paraplegia
-
Reid, E. Pure hereditary spastic paraplegia. J. Med. Genet. 34, 499-503 (1997).
-
(1997)
J. Med. Genet.
, vol.34
, pp. 499-503
-
-
Reid, E.1
-
2
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
Harding, A.E. Classification of the hereditary ataxias and paraplegias. Lancet 1, 1151-1155 (1983).
-
(1983)
Lancet
, vol.1
, pp. 1151-1155
-
-
Harding, A.E.1
-
3
-
-
0142121070
-
Hereditary ataxias. Occurence and clinical features
-
Werderlin, L. Hereditary ataxias. Occurence and clinical features. Acta Neurol. Scand. 73 (suppl. 106), 124 (1986).
-
(1986)
Acta Neurol. Scand.
, vol.73
, Issue.SUPPL. 106
, pp. 124
-
-
Werderlin, L.1
-
4
-
-
0016173785
-
Hereditary spastic paraplegia in western Norway
-
Skre, H. Hereditary spastic paraplegia in western Norway. Clin. Genet. 6, 165-183 (1974).
-
(1974)
Clin. Genet.
, vol.6
, pp. 165-183
-
-
Skre, H.1
-
5
-
-
0027363223
-
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
-
Hazan, J. et al. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nature Genet. 5, 163-167 (1993).
-
(1993)
Nature Genet.
, vol.5
, pp. 163-167
-
-
Hazan, J.1
-
6
-
-
0027981739
-
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
-
Hazan, J. et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum. Mol. Genet 3, 1569-1573 (1994).
-
(1994)
Hum. Mol. Genet
, vol.3
, pp. 1569-1573
-
-
Hazan, J.1
-
7
-
-
0028067709
-
Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers
-
Hentati, A. et al. Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum. Mol. Genet. 3, 1867-1871 (1994).
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1867-1871
-
-
Hentati, A.1
-
8
-
-
0028868126
-
Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q
-
Fink, J.K. et al. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am. J. Hum. Genet. 56, 188-192 (1995).
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 188-192
-
-
Fink, J.K.1
-
9
-
-
0033073735
-
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q
-
Hedera, P. et al. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am. J. Hum. Genet. 64, 563-569 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 563-569
-
-
Hedera, P.1
-
10
-
-
8944250670
-
Hereditary spastic paraplegia: Advances in genetic research
-
The Hereditary Spastic Paraplegia Working Group. Hereditary spastic paraplegia: advances in genetic research. Neurology 46, 1507-1514 (1996).
-
(1996)
Neurology
, vol.46
, pp. 1507-1514
-
-
-
11
-
-
10344241450
-
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2
-
Dürr, A. et al. Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain 119, 1487-1496 (1996).
-
(1996)
Brain
, vol.119
, pp. 1487-1496
-
-
Dürr, A.1
-
12
-
-
0031215402
-
Locus heterogeneity, anticipation, and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia
-
Scott, W.K. et al. Locus heterogeneity, anticipation, and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. Neurogenetics 1, 95-102 (1997).
-
(1997)
Neurogenetics
, vol.1
, pp. 95-102
-
-
Scott, W.K.1
-
13
-
-
0030807772
-
CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-24
-
Nielsen, J.E. et al. CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-24. Hum. Mol. Genet. 6, 1811-1816 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1811-1816
-
-
Nielsen, J.E.1
-
14
-
-
84920357829
-
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia
-
in press
-
Hazan, J. et al. A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia. Genomics (in press).
-
Genomics
-
-
Hazan, J.1
-
15
-
-
0028241952
-
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
-
Jouet, M. et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nature Genet. 7, 402-407 (1994).
-
(1994)
Nature Genet.
, vol.7
, pp. 402-407
-
-
Jouet, M.1
-
16
-
-
0028239867
-
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
-
Saugier-Veber, P. et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet. 6, 257-262 (1994).
-
(1994)
Nature Genet.
, vol.6
, pp. 257-262
-
-
Saugier-Veber, P.1
-
17
-
-
0029328549
-
A 200 amino acid ATPase module in search of a basic function
-
Confalonieri, F. & Duguet, M. A 200 amino acid ATPase module in search of a basic function. Bioessays 17, 639-650 (1995).
-
(1995)
Bioessays
, vol.17
, pp. 639-650
-
-
Confalonieri, F.1
Duguet, M.2
-
18
-
-
0031973716
-
The AAA team: Related ATPases with diverse functions
-
Patel, S. & Latterich, M. The AAA team: related ATPases with diverse functions. Trends Cell Biol. 8, 65-71 (1998).
-
(1998)
Trends Cell Biol.
, vol.8
, pp. 65-71
-
-
Patel, S.1
Latterich, M.2
-
19
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari, G. et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93, 973-983 (1998).
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
-
20
-
-
0031960716
-
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p
-
Heinzlef, O. et al. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J. Med. Genet. 35, 89-93 (1998).
-
(1998)
J. Med. Genet.
, vol.35
, pp. 89-93
-
-
Heinzlef, O.1
-
21
-
-
0027438935
-
Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): Structural analysis of the protein and chromosomal location of the gene
-
Ichida, K. et al. Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): structural analysis of the protein and chromosomal location of the gene. Gene 133, 279-284 (1993).
-
(1993)
Gene
, vol.133
, pp. 279-284
-
-
Ichida, K.1
-
22
-
-
0026055914
-
Deletion of steroid 5′-reductase 2 gene in male pseudohermaphroditism
-
Andersson, S., Berman, D.M., Jenkins, E.P. & Russell, D.W. Deletion of steroid 5′-reductase 2 gene in male pseudohermaphroditism. Nature 354, 159-161 (1991).
-
(1991)
Nature
, vol.354
, pp. 159-161
-
-
Andersson, S.1
Berman, D.M.2
Jenkins, E.P.3
Russell, D.W.4
-
23
-
-
0025364777
-
TGF-β 1 binding protein: A component of the large latent complex of TGF-β 1 with multiple repeat sequences
-
Kanzaki, T. et al. TGF-β 1 binding protein: a component of the large latent complex of TGF-β 1 with multiple repeat sequences. Cell 61, 1051-1061 (1990).
-
(1990)
Cell
, vol.61
, pp. 1051-1061
-
-
Kanzaki, T.1
-
24
-
-
0028071874
-
Identification of a set of yeast genes coding for a novel family of putative ATPases with high similarity to constituents of the 265 protease complex
-
Schnall, R. et al. Identification of a set of yeast genes coding for a novel family of putative ATPases with high similarity to constituents of the 265 protease complex. Yeast 10, 1141-1155 (1994).
-
(1994)
Yeast
, vol.10
, pp. 1141-1155
-
-
Schnall, R.1
-
25
-
-
0028017842
-
Identification of a novel mammalian member of the NSF/ CDC48p/Pas1p/TBP-1 family through heterologous expression in yeast
-
Perier, F. et al. Identification of a novel mammalian member of the NSF/ CDC48p/Pas1p/TBP-1 family through heterologous expression in yeast. FEBS Lett. 351, 286-290 (1994).
-
(1994)
FEBS Lett.
, vol.351
, pp. 286-290
-
-
Perier, F.1
-
26
-
-
0028618270
-
Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames
-
Solovyev, V.V., Salamov, A.A. & Lawrence, C.B. Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames. Nucleic Acids Res. 22, 5156-5163 (1994).
-
(1994)
Nucleic Acids Res.
, vol.22
, pp. 5156-5163
-
-
Solovyev, V.V.1
Salamov, A.A.2
Lawrence, C.B.3
-
27
-
-
0030333286
-
A generalized hidden Markov model for the recognition of human genes in DNA
-
ed. AAAI MIT Press, St Louis, Missouri
-
Kulp, D., Haussler, D., Reese, M.G. & Eeckman, F.H. A generalized hidden Markov model for the recognition of human genes in DNA. in Proceedings of the Fourth International Conference on Intelligent Systems for Molecular Biology (ed. AAAI) 134-142 (MIT Press, St Louis, Missouri, 1996).
-
(1996)
Proceedings of the Fourth International Conference on Intelligent Systems for Molecular Biology
, pp. 134-142
-
-
Kulp, D.1
Haussler, D.2
Reese, M.G.3
Eeckman, F.H.4
-
28
-
-
0028185620
-
Recognizing exons in genomic sequence using GRAIL II
-
ed. Setlow, J. Plenum Press, New York
-
Xu, Y., Mural, R.J., Shah, M.B. & Uberbacher, E.C. Recognizing exons in genomic sequence using GRAIL II. in Genetic engineering: Principles and Methods (ed. Setlow, J.) 241-253 (Plenum Press, New York, 1994).
-
(1994)
Genetic Engineering: Principles and Methods
, pp. 241-253
-
-
Xu, Y.1
Mural, R.J.2
Shah, M.B.3
Uberbacher, E.C.4
-
29
-
-
0031586003
-
Prediction of complete gene structure in human genomic DNA
-
Burge, C. & Karlin, S. Prediction of complete gene structure in human genomic DNA. J. Mol. Biol. 268, 78-94 (1997).
-
(1997)
J. Mol. Biol.
, vol.268
, pp. 78-94
-
-
Burge, C.1
Karlin, S.2
-
30
-
-
0030213227
-
Interpreting cDNA sequences: Some insights from studies on translation
-
Kosak, M. Interpreting cDNA sequences: some insights from studies on translation. Mamm. Genome 7, 563-574 (1996).
-
(1996)
Mamm. Genome
, vol.7
, pp. 563-574
-
-
Kosak, M.1
-
31
-
-
0029038960
-
Predicting Pol II promoter sequences using transcription factor binding sites
-
Prestridge, D.S. Predicting Pol II promoter sequences using transcription factor binding sites. J. Mol. Biol. 249, 923-932 (1995).
-
(1995)
J. Mol. Biol.
, vol.249
, pp. 923-932
-
-
Prestridge, D.S.1
-
32
-
-
0030867609
-
Sequence analysis of the AAA protein family
-
Beyer, A. Sequence analysis of the AAA protein family. Protein Sci. 6, 2043-2058 (1997).
-
(1997)
Protein Sci.
, vol.6
, pp. 2043-2058
-
-
Beyer, A.1
-
33
-
-
0001607723
-
Distantly related sequences in the α- and β-subunits of ATPase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide-binding fold
-
Walker, J.E., Saraste, M.J., Runswick, J.J. & Gay, N.J. Distantly related sequences in the α- and β-subunits of ATPase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide-binding fold. EMBO J. 1, 945-951 (1982).
-
(1982)
EMBO J.
, vol.1
, pp. 945-951
-
-
Walker, J.E.1
Saraste, M.J.2
Runswick, J.J.3
Gay, N.J.4
-
34
-
-
0029942195
-
Association of yeast SAP1, a novel member of the "AAA" ATPase family of proteins, with the chromatin protein SIN 1
-
Liberzon, A., Shpungin, S., Bangio, H., Yona, E. & Katcoff, D.J. Association of yeast SAP1, a novel member of the "AAA" ATPase family of proteins, with the chromatin protein SIN 1. FEBS Lett. 388, 5-10 (1996).
-
(1996)
FEBS Lett.
, vol.388
, pp. 5-10
-
-
Liberzon, A.1
Shpungin, S.2
Bangio, H.3
Yona, E.4
Katcoff, D.J.5
-
35
-
-
0026351408
-
Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach
-
Uberbacher, E.C. & Mural, R.J. Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl Acad. Sci. USA 88, 11261-11265 (1991).
-
(1991)
Proc. Natl Acad. Sci. USA
, vol.88
, pp. 11261-11265
-
-
Uberbacher, E.C.1
Mural, R.J.2
-
36
-
-
0030730258
-
The evolution of the conserved ATPase domain (CAD): Reconstructing the history of an ancient protein module
-
Swaffield, J.C. & Purugganan, M.D. The evolution of the conserved ATPase domain (CAD): reconstructing the history of an ancient protein module. J. Mol. Evol. 45, 549-563 (1997).
-
(1997)
J. Mol. Evol.
, vol.45
, pp. 549-563
-
-
Swaffield, J.C.1
Purugganan, M.D.2
-
37
-
-
0032969563
-
+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes
-
+: a class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. Genome Res. 9, 27-43 (1999).
-
(1999)
Genome Res.
, vol.9
, pp. 27-43
-
-
Neuwald, A.F.1
Aravind, L.2
Spouge, J.L.3
Koonin, E.V.4
-
38
-
-
0029173774
-
Proteasomes of the yeast 5. Cerevisiae: Genes, structure and functions
-
Hilt, W. & Wolf, D.H. Proteasomes of the yeast 5. cerevisiae: genes, structure and functions. Mol. Biol. Reports 21, 3-10 (1995).
-
(1995)
Mol. Biol. Reports
, vol.21
, pp. 3-10
-
-
Hilt, W.1
Wolf, D.H.2
-
39
-
-
16944366666
-
The early onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
Ozelius, L.J. et al. The early onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet. 17, 40-48 (1997).
-
(1997)
Nature Genet.
, vol.17
, pp. 40-48
-
-
Ozelius, L.J.1
-
40
-
-
0028014337
-
The molecular basis of genetic dominance
-
Wilkie, A.O.M. The molecular basis of genetic dominance. J. Med. Genet. 31, 89-98 (1994).
-
(1994)
J. Med. Genet.
, vol.31
, pp. 89-98
-
-
Wilkie, A.O.M.1
-
41
-
-
0032491408
-
Genetic classification of primary neurodegenerative disease
-
Hardy, J. & Gwinn-Hardy, K. Genetic classification of primary neurodegenerative disease. Science 282, 1075-1078 (1998).
-
(1998)
Science
, vol.282
, pp. 1075-1078
-
-
Hardy, J.1
Gwinn-Hardy, K.2
-
42
-
-
0030813487
-
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
-
Koutnikova, H. et al. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nature Genet 16, 345-357 (1997).
-
(1997)
Nature Genet
, vol.16
, pp. 345-357
-
-
Koutnikova, H.1
-
43
-
-
17344362021
-
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
-
Zhu, Z. et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genet. 20, 337-343 (1998).
-
(1998)
Nature Genet.
, vol.20
, pp. 337-343
-
-
Zhu, Z.1
-
44
-
-
0032475931
-
Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
-
Saudou, F., Finkbeiner, S., Devys, D. & Greenberg, M.E. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 95, 55-66 (1998).
-
(1998)
Cell
, vol.95
, pp. 55-66
-
-
Saudou, F.1
Finkbeiner, S.2
Devys, D.3
Greenberg, M.E.4
-
45
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA1 transgenic mice
-
Klement, I.A. et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95, 41-53 (1998).
-
(1998)
Cell
, vol.95
, pp. 41-53
-
-
Klement, I.A.1
-
46
-
-
0032529138
-
An improved approach for construction of bacterial artificial chromosome libraries
-
Osoegawa, K. et al. An improved approach for construction of bacterial artificial chromosome libraries. Genomics 52, 1-8 (1998).
-
(1998)
Genomics
, vol.52
, pp. 1-8
-
-
Osoegawa, K.1
-
47
-
-
0031955518
-
Base-calling of automated sequencer traces using Phred
-
Ewing, B., Hillier, L., Wendl, M.C. & Green, P. Base-calling of automated sequencer traces using Phred. Genome Res. 8, 175-185 (1998).
-
(1998)
Genome Res.
, vol.8
, pp. 175-185
-
-
Ewing, B.1
Hillier, L.2
Wendl, M.C.3
Green, P.4
-
48
-
-
0030881249
-
Genotator: A workbench for sequence annotation
-
Harris, N.L. Genotator: a workbench for sequence annotation. Genome Res. 7, 754-762 (1997).
-
(1997)
Genome Res.
, vol.7
, pp. 754-762
-
-
Harris, N.L.1
|