-
1
-
-
0000960536
-
Die primäre Seitenstrangsklerose
-
Strümpell A. Die primäre Seitenstrangsklerose. Dtsch 2 Nervenheild. 1904;27: 291-339.
-
(1904)
Dtsch 2 Nervenheild
, vol.27
, pp. 291-339
-
-
Strümpell, A.1
-
3
-
-
0014085911
-
The Troyer syndrome: A recessive form of spastic paraplegia with distal muscle wasting
-
Cross HE, McKusik VA. The Troyer syndrome: a recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol. 1967;16:619-625.
-
(1967)
Arch Neurol
, vol.16
, pp. 619-625
-
-
Cross, H.E.1
McKusik, V.A.2
-
5
-
-
0015007505
-
Juvenile amyotrophic lateral sclerosis in two brothers from an inbred community
-
Gragg GW, Fogelson MH, Zwirecki RJ. Juvenile amyotrophic lateral sclerosis in two brothers from an inbred community. Birth Defects. 1971;7:222-225.
-
(1971)
Birth Defects
, vol.7
, pp. 222-225
-
-
Gragg, G.W.1
Fogelson, M.H.2
Zwirecki, R.J.3
-
6
-
-
0004643472
-
Familial spastic paraplegia with amyotrophy, oligophrenia and central retinal degeneration
-
Kjellin K. Familial spastic paraplegia with amyotrophy, oligophrenia and central retinal degeneration. Arch Neurol. 1959;1:133-140.
-
(1959)
Arch Neurol
, vol.1
, pp. 133-140
-
-
Kjellin, K.1
-
7
-
-
0013923447
-
Familial spastic paraplegia with amyotrophy of the hands
-
Silver JR. Familial spastic paraplegia with amyotrophy of the hands. Ann Hum Genet. 1966;30:69-75.
-
(1966)
Ann Hum Genet
, vol.30
, pp. 69-75
-
-
Silver, J.R.1
-
8
-
-
0014301112
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy, II: Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations
-
Dyk PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy, II: neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol. 1968;18:619-625.
-
(1968)
Arch Neurol
, vol.18
, pp. 619-625
-
-
Dyk, P.J.1
Lambert, E.H.2
-
9
-
-
0009320935
-
Hereditary spastic paraplegia: Report of a family with associated extrapyramidal signs
-
Dick AP, Stevenson CJ. Hereditary spastic paraplegia: report of a family with associated extrapyramidal signs. Lancet. 1953;1:921-923.
-
(1953)
Lancet
, vol.1
, pp. 921-923
-
-
Dick, A.P.1
Stevenson, C.J.2
-
10
-
-
0013866267
-
Hereditary spastic paraplegia with ocular and extrapyramidal signs
-
Brown JW, Coleman RF. Hereditary spastic paraplegia with ocular and extrapyramidal signs. Bull Los Angeles Neurol Soc. 1966;31:21-34.
-
(1966)
Bull Los Angeles Neurol Soc
, vol.31
, pp. 21-34
-
-
Brown, J.W.1
Coleman, R.F.2
-
11
-
-
1842371862
-
Hereditary cerebral palsy: A preliminary report
-
Blumel J, Evans EB, Eggers, GWN. Hereditary cerebral palsy: a preliminary report. J Pediatr. 1957;50:454-458.
-
(1957)
J Pediatr
, vol.50
, pp. 454-458
-
-
Blumel, J.1
Evans, E.B.2
Eggers, G.W.N.3
-
12
-
-
0002397825
-
A sex-linked recessive inheritance of spastic paraplegia
-
Johnston AW, McKusick VA. A sex-linked recessive inheritance of spastic paraplegia. Am J Hum Genet. 1962;14:83-94.
-
(1962)
Am J Hum Genet
, vol.14
, pp. 83-94
-
-
Johnston, A.W.1
McKusick, V.A.2
-
13
-
-
0022875854
-
Linkage studies of X-linked recessive inheritance of spastic paraplegia using DNA probes
-
Kenwrick S, Ionasescu V, Ionasescu G, et al. Linkage studies of X-linked recessive inheritance of spastic paraplegia using DNA probes. Hum Genet. 1986; 73:264-266.
-
(1986)
Hum Genet
, vol.73
, pp. 264-266
-
-
Kenwrick, S.1
Ionasescu, V.2
Ionasescu, G.3
-
14
-
-
0024519130
-
X-linked spastic paraplegia: Evidence for homogeneity with a variable phenotype
-
Goldblatt J, Ballo R, Sachs B, Moosa A. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. Clin Genet. 1989;35:116-120.
-
(1989)
Clin Genet
, vol.35
, pp. 116-120
-
-
Goldblatt, J.1
Ballo, R.2
Sachs, B.3
Moosa, A.4
-
15
-
-
0027212813
-
X-linked spastic paraplegia (SPG2): Clinical heterogeneity at a single gene locus
-
Bonneau D, Rozet J-M, Bulteau C, et al. X-linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus. J Med Genet. 1993;30:381-384.
-
(1993)
J Med Genet
, vol.30
, pp. 381-384
-
-
Bonneau, D.1
Rozet, J.-M.2
Bulteau, C.3
-
16
-
-
0027363223
-
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
-
Hazan J, Lamy C, Melki J, Munnich A, De Recondo J, Weissenbach J, Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet. 1993;5:163-167.
-
(1993)
Nat Genet
, vol.5
, pp. 163-167
-
-
Hazan, J.1
Lamy, C.2
Melki, J.3
Munnich, A.4
De Recondo, J.5
Weissenbach, J.6
-
17
-
-
0027981739
-
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
-
Hazan J, Fontaine B, Bruyn RPM, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet. 1994; 3:1569-1573.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1569-1573
-
-
Hazan, J.1
Fontaine, B.2
Bruyn, R.P.M.3
-
18
-
-
0028067709
-
Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers
-
Hentati A, Pericak-Vance MA, Lennon F, et al. Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum Mol Genet 1994;3:1867-1871.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1867-1871
-
-
Hentati, A.1
Pericak-Vance, M.A.2
Lennon, F.3
-
19
-
-
0028872909
-
Autosomal dominant familial spastic paraplegia: Reduction of the FSP1 candidate region on chromosome 14q to 7cM and locus heterogeneity
-
Gispert S, Santos N, Damen R, et al. Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7cM and locus heterogeneity. Am J Hum Genet. 1995;56:183-187.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 183-187
-
-
Gispert, S.1
Santos, N.2
Damen, R.3
-
20
-
-
0028868126
-
Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q
-
Fink JK, Wu CB, Jones SM, et al. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 1995;56:188-192.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 188-192
-
-
Fink, J.K.1
Wu, C.B.2
Jones, S.M.3
-
21
-
-
0028145138
-
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
-
Hentati A, Pericak-Vance MA, Hung W-Y, et al. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 1994;3:1263-1267.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1263-1267
-
-
Hentati, A.1
Pericak-Vance, M.A.2
Hung, W.-Y.3
-
22
-
-
0019777963
-
Hereditary pure spastic paraplegia: A clinical and genetic study of 22 families
-
Harding AE. Hereditary pure spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry. 1981;44:871-883.
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 871-883
-
-
Harding, A.E.1
-
23
-
-
0015945194
-
Strümpell's familial spastic paraplegia: Genetics and neuropathology
-
Behan WMH, Maia M. Strümpell's familial spastic paraplegia: genetics and neuropathology. J Neurol Neurosurg Psychiatry. 1974;37:8-20.
-
(1974)
J Neurol Neurosurg Psychiatry
, vol.37
, pp. 8-20
-
-
Behan, W.M.H.1
Maia, M.2
-
24
-
-
0024582686
-
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
-
Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44: 388-396.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 388-396
-
-
Weber, J.L.1
May, P.E.2
-
25
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Gyapay G, Morisette J, Vignal A, et al. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994;7:246-339.
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morisette, J.2
Vignal, A.3
-
26
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.2
Banfi, S.3
-
27
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8:221-228.
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
28
-
-
0021850103
-
Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
-
Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-498.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 482-498
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
31
-
-
0025964920
-
Allele frequency estimation from data on relatives
-
Boehnke M. Allele frequency estimation from data on relatives. Am J Hum Genet. 1991;48:22-25.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 22-25
-
-
Boehnke, M.1
-
32
-
-
0029959667
-
Autosomal dominant cerebellar ataxia type I: Clinical features and MRI in families with SCA1, SCA2 and SCA3
-
Bürk K, Abele M, Fetter M, et al. Autosomal dominant cerebellar ataxia type I: clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain. 1996; 119:1497-1505.
-
(1996)
Brain
, vol.119
, pp. 1497-1505
-
-
Bürk, K.1
Abele, M.2
Fetter, M.3
-
34
-
-
0023634009
-
Etiological heterogeneity in X-linked spastic paraplegia
-
Keppen LD, Leppert MF, O'Connell PO, et al. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet. 1987;41:933-943.
-
(1987)
Am J Hum Genet
, vol.41
, pp. 933-943
-
-
Keppen, L.D.1
Leppert, M.F.2
O'Connell, P.O.3
-
35
-
-
0344646373
-
Autosomal dominant hereditary spastic paraplegia: Linkage analysis of a heterogeneous trait
-
Abstract
-
Dubé M-P, Rouleau GA, Kibar Z, et al. Autosomal dominant hereditary spastic paraplegia: linkage analysis of a heterogeneous trait. Am J Hum Genet 1995; 57(suppl):A1093. Abstract.
-
(1995)
Am J Hum Genet
, vol.57
, Issue.SUPPL.
-
-
Dubé, M.-P.1
Rouleau, G.A.2
Kibar, Z.3
-
36
-
-
0038913348
-
Linkage and heterogeneity in hereditary spastic paraparesis
-
Abstract
-
Lennon F, Gaskell PC, Wolpert C, et al. Linkage and heterogeneity in hereditary spastic paraparesis. Am J Hum Genet. 1995;57(suppl):A1255. Abstract.
-
(1995)
Am J Hum Genet
, vol.57
, Issue.SUPPL.
-
-
Lennon, F.1
Gaskell, P.C.2
Wolpert, C.3
-
37
-
-
0345077060
-
Confirmation of linkage of familial spastic paraparesis to chromosome 2p21
-
Abstract
-
Nance MA, Raabe WA, Midani H, et al. Confirmation of linkage of familial spastic paraparesis to chromosome 2p21. Am J Hum Genet. 1995;57(suppl): A1281. Abstract.
-
(1995)
Am J Hum Genet
, vol.57
, Issue.SUPPL.
-
-
Nance, M.A.1
Raabe, W.A.2
Midani, H.3
-
38
-
-
0026878962
-
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
-
Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992;1:209-213.
-
(1992)
Nat Genet
, vol.1
, pp. 209-213
-
-
Rosenfeld, P.J.1
Cowley, G.S.2
McGee, T.L.3
Sandberg, M.A.4
Berson, E.L.5
Dryja, T.P.6
-
39
-
-
0028815298
-
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
-
Vikkula M, Mariman ECM, Lui VCH, et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell. 1995;80: 431-437.
-
(1995)
Cell
, vol.80
, pp. 431-437
-
-
Vikkula, M.1
Mariman, E.C.M.2
Lui, V.C.H.3
-
40
-
-
0028037953
-
The phenotype of 'pure' autosomal dominant spastic paraplegia
-
Dürr A, Brice A, Serdaru M, et al. The phenotype of 'pure' autosomal dominant spastic paraplegia. Neurology. 1994;44:1274-1277.
-
(1994)
Neurology
, vol.44
, pp. 1274-1277
-
-
Dürr, A.1
Brice, A.2
Serdaru, M.3
|