-
1
-
-
7344257297
-
Spastic Paraplegia
-
Edited by McKusick VA. Baltimore: John Hopkins University Press
-
McKusick VA: Spastic Paraplegia. In: Mendelian Inheritance in Man, 8th ed. Edited by McKusick VA. Baltimore: John Hopkins University Press, 1988:677.
-
(1988)
Mendelian Inheritance in Man, 8th Ed.
, pp. 677
-
-
McKusick, V.A.1
-
2
-
-
0015945194
-
Strumpell's familial spastic paraplegia: Genetics and neuropathology
-
Behan W, Maia M: Strumpell'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.1
Maia, M.2
-
3
-
-
0017585942
-
Strumpell's pure familial spastic paraplegia: Case study and review of the literature
-
Holmes G, Shaywitz B: Strumpell's pure familial spastic paraplegia: case study and review of the literature. J Neurol Neurosurg Psychiatry 1977, 40:1003-1008.
-
(1977)
J Neurol Neurosurg Psychiatry
, vol.40
, pp. 1003-1008
-
-
Holmes, G.1
Shaywitz, B.2
-
4
-
-
0015733925
-
Sphincter involvement in hereditary spastic paraplegia
-
Cartlidge N, Bone G: Sphincter involvement in hereditary spastic paraplegia. Neurology 1973, 23:1160-1163.
-
(1973)
Neurology
, vol.23
, pp. 1160-1163
-
-
Cartlidge, N.1
Bone, G.2
-
5
-
-
0039505972
-
Hereditary (familial) spastic paraplegia: Report of six cases in one family
-
Philipp E: Hereditary (familial) spastic paraplegia: report of six cases in one family. New Zeal Med J 1949, 48:22-25.
-
(1949)
New Zeal Med J
, vol.48
, pp. 22-25
-
-
Philipp, E.1
-
6
-
-
0009544964
-
Hereditary spastic paraplegia
-
Roe P: Hereditary spastic paraplegia. J Neurol Neursurg Psychiatry 1963, 26:516-519.
-
(1963)
J Neurol Neursurg Psychiatry
, vol.26
, pp. 516-519
-
-
Roe, P.1
-
7
-
-
0010476966
-
Family spastic paralysis
-
Rhein J: Family spastic paralysis. J Nerv Ment Dis 1914, 44:115-144
-
(1914)
J Nerv Ment Dis
, vol.44
, pp. 115-144
-
-
Rhein, J.1
-
8
-
-
0027759812
-
Hereditary spastic paraplegias
-
Harding AE: Hereditary spastic paraplegias. Semin Neurol 1993, 13:333-336.
-
(1993)
Semin Neurol
, vol.13
, pp. 333-336
-
-
Harding, A.E.1
-
9
-
-
0025124220
-
A Dutch family with autosomal dominant pure spastic paraparesi (Strumpell's disease)
-
Scheltens P, Bruyn RPM, Hazenberg GJ: A Dutch family with autosomal dominant pure spastic paraparesi (Strumpell's disease). Acta Neurol Scand 1990, 82:169-173.
-
(1990)
Acta Neurol Scand
, vol.82
, pp. 169-173
-
-
Scheltens, P.1
Bruyn, R.P.M.2
Hazenberg, G.J.3
-
10
-
-
0022875854
-
Linkage studies of X-linked recessive spastic paraplegia using DNA probes
-
Kenwrick S, Ionasescu V, Ionasescu G, Searby C, King A, Dubowitz M, Davies KE: Linkage studies of X-linked recessive 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
Searby, C.4
King, A.5
Dubowitz, M.6
Davies, K.E.7
-
11
-
-
0027535958
-
Hereditary 'pure' spastic parapledgia: A study of nine families
-
Polo JM, Calleja J, Combarris O, Berciano J: Hereditary 'pure' spastic parapledgia: a study of nine families. J Neurol Neurosurg Psyciatry 1993, 56:175-181.
-
(1993)
J Neurol Neurosurg Psyciatry
, vol.56
, pp. 175-181
-
-
Polo, J.M.1
Calleja, J.2
Combarris, O.3
Berciano, J.4
-
12
-
-
0040691221
-
Spastic paraplegia/HSP
-
Motulsky AG, Bobrow M, Harper PS, Scriver C (eds): New York: Oxford University Press
-
Baraitser M: Spastic paraplegia/HSP. In: Motulsky AG, Bobrow M, Harper PS, Scriver C (eds): The Genetics of Neurological Disorders. 2nd ed. New York: Oxford University Press, 1990:275-290.
-
(1990)
The Genetics of Neurological Disorders. 2nd Ed.
, pp. 275-290
-
-
Baraitser, M.1
-
13
-
-
0002882906
-
Familial spastic paraplegia
-
Vinken PJ, Bruyn GW, eds. Amsterdam: North Holland
-
Sutherland JM: Familial spastic paraplegia. In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology, vol 22, System Disorders and Atrophies, Part II. Amsterdam: North Holland, 1975, 420-431.
-
(1975)
Handbook of Clinical Neurology, Vol 22, System Disorders and Atrophies, Part II
, vol.22
, pp. 420-431
-
-
Sutherland, J.M.1
-
14
-
-
0001519052
-
Hereditary (familial) spastic paraplegia. Further clinical and pathologic observations
-
Schwarz GA, Liu C-N: Hereditary (familial) spastic paraplegia. Further clinical and pathologic observations. AMA Arch Neurol Psychiatry 1956, 75:144-162.
-
(1956)
AMA Arch Neurol Psychiatry
, vol.75
, pp. 144-162
-
-
Schwarz, G.A.1
Liu, C.-N.2
-
15
-
-
0023186341
-
The autosomal dominant form of 'pure' familial spastic paraplegia
-
Boustany RN, Fleischnick E, Alper CA, Marazita ML, Spense MA, Martin JB, Kolodny EH: The autosomal dominant form of 'pure' familial spastic paraplegia. Neurology 1987, 37:910-915.
-
(1987)
Neurology
, vol.37
, pp. 910-915
-
-
Boustany, R.N.1
Fleischnick, E.2
Alper, C.A.3
Marazita, M.L.4
Spense, M.A.5
Martin, J.B.6
Kolodny, E.H.7
-
17
-
-
0040097749
-
Spastic Paraplegia, Hereditary
-
8th edited by Mckusick VA Baltimore: Johns Hopkins University Press
-
McKusick VA: Spastic Paraplegia, Hereditary. In: Mendelian Inheritance in Man, 8th edited by Mckusick VA Baltimore: Johns Hopkins University Press, 1988:1189.
-
(1988)
Mendelian Inheritance in Man
, pp. 1189
-
-
McKusick, V.A.1
-
18
-
-
0016173785
-
Hereditary spastic paraplegia in Western Norway
-
Skre H: Hereditary spastic paraplegia in Western Norway. Clin Gen 1993, 6:165-183.
-
(1993)
Clin Gen
, vol.6
, pp. 165-183
-
-
Skre, H.1
-
19
-
-
0028037953
-
The phenotype of 'pure' artosomal dominant spastic paraplegia
-
Durr A, Brice A, Serdaru M, Rancurel G, Derouesne C, Lyon-Caen O, Agid Y, Fontaine B: The phenotype of 'pure' artosomal dominant spastic paraplegia. Neurology 1994, 44:1274-1277.
-
(1994)
Neurology
, vol.44
, pp. 1274-1277
-
-
Durr, A.1
Brice, A.2
Serdaru, M.3
Rancurel, G.4
Derouesne, C.5
Lyon-Caen, O.6
Agid, Y.7
Fontaine, B.8
-
20
-
-
0028868126
-
Familial spastic paraplegia: Tight linkage to chromsome 15q
-
Fink JK, Wu CB, Jones SM, Sharp GB, Lange BM, Lesicki A, Reinglass T, Varvil T, Otterud B, Leppert M: Familial spastic paraplegia: tight linkage to chromsome 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
Sharp, G.B.4
Lange, B.M.5
Lesicki, A.6
Reinglass, T.7
Varvil, T.8
Otterud, B.9
Leppert, M.10
-
21
-
-
8944250670
-
Hereditary spastic parplega: Advances in genetic research
-
Fink JK, Heiman-Patterson T: Hereditary spastic parplega: advances in genetic research. Neurology 1996, 46:1507-1414.
-
(1996)
Neurology
, vol.46
, pp. 1507-11414
-
-
Fink, J.K.1
Heiman-Patterson, T.2
-
22
-
-
0025350741
-
Autosomal dominant familial spastic paraplegia: Report of a large New England family
-
Cooley WC, Rawnsley E, Melkonian G, Moses C, McCann D, Virgin B, Coughlan J, Moeschler JB: Autosomal dominant familial spastic paraplegia: report of a large New England family. Clin Gen 1990, 38:57-68.
-
(1990)
Clin Gen
, vol.38
, pp. 57-68
-
-
Cooley, W.C.1
Rawnsley, E.2
Melkonian, G.3
Moses, C.4
McCann, D.5
Virgin, B.6
Coughlan, J.7
Moeschler, J.B.8
-
23
-
-
0027363223
-
Autosomal dominant familial spastic paraplega is genetically heterogeneous and one locus maps to chromosome 14q
-
Hazan J, Lamy C, Melki J, Munnich A, de Recond J, Weissenbach J: Autosomal dominant familial spastic paraplega is genetically heterogeneous and one locus maps to chromosome 14q. Nat Gene 1993, 5:163-167.
-
(1993)
Nat Gene
, vol.5
, pp. 163-167
-
-
Hazan, J.1
Lamy, C.2
Melki, J.3
Munnich, A.4
De Recond, J.5
Weissenbach, J.6
-
24
-
-
0025353508
-
A qualitative study of sensory functions in hereditary spastic paraplegia
-
Schady W, Scheard A: A qualitative study of sensory functions in hereditary spastic paraplegia. Brain 1990, 113:709-720.
-
(1990)
Brain
, vol.113
, pp. 709-720
-
-
Schady, W.1
Scheard, A.2
-
25
-
-
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
-
26
-
-
0000891109
-
Familial spastic paraplegia with amyotrophy of the hands
-
Silver JR: Familial spastic paraplegia with amyotrophy of the hands. J Neurol Neurosurg Psychiatry 1966, 29:135-144.
-
(1966)
J Neurol Neurosurg Psychiatry
, vol.29
, pp. 135-144
-
-
Silver, J.R.1
-
27
-
-
0014085911
-
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting
-
Cross HE, McKusick VA: The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 1967, 16:473-485.
-
(1967)
Arch Neurol
, vol.16
, pp. 473-485
-
-
Cross, H.E.1
McKusick, V.A.2
-
28
-
-
0344184475
-
Amyotrophic familial spastic paraplegia
-
Refsum S, Skillicorn SA: Amyotrophic familial spastic paraplegia. Neurology 1954, 4:40-47.
-
(1954)
Neurology
, vol.4
, pp. 40-47
-
-
Refsum, S.1
Skillicorn, S.A.2
-
29
-
-
0027375739
-
An introduction to the molecular genetics of neurological disease
-
Rosenberg RN: An introduction to the molecular genetics of neurological disease. Arch Neurol 1993, 50:1123-1128.
-
(1993)
Arch Neurol
, vol.50
, pp. 1123-1128
-
-
Rosenberg, R.N.1
-
30
-
-
0026335360
-
Motor and somatosensory evoked potentials in hereditary spastic paraplegia
-
Pelosi L, Lanzillo B, Perrefti A: Motor and somatosensory evoked potentials in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 1991, 54:1099-1102.
-
(1991)
J Neurol Neurosurg Psychiatry
, vol.54
, pp. 1099-1102
-
-
Pelosi, L.1
Lanzillo, B.2
Perrefti, A.3
-
31
-
-
0025773374
-
Central motor conduction studies in hereditary spastic paraplegia
-
Schady W, Dick JP, Sheard A, Crampton S: Central motor conduction studies in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 1991, 54:1099-1102.
-
(1991)
J Neurol Neurosurg Psychiatry
, vol.54
, pp. 1099-1102
-
-
Schady, W.1
Dick, J.P.2
Sheard, A.3
Crampton, S.4
-
32
-
-
0025371043
-
Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: A magnetic stimulation study
-
Claus D, Waddy HM, Harding AE: Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study. Ann Neurol 1990, 28:43-9.
-
(1990)
Ann Neurol
, vol.28
, pp. 43-49
-
-
Claus, D.1
Waddy, H.M.2
Harding, A.E.3
-
33
-
-
85036493490
-
Contribution to the study of pure and complicated forms of familial spastic paraplegias (Strumpell-Lorrain) in Tunisia
-
Thesis for doctorate in Medicine
-
Hentati A: Contribution to the study of pure and complicated forms of familial spastic paraplegias (Strumpell-Lorrain) in Tunisia. Thesis for doctorate in Medicine. Faculte' de Medicine de sfax (Tunisia) 1989.
-
(1989)
Faculte' de Medicine de Sfax (Tunisia)
-
-
Hentati, A.1
-
34
-
-
0000666624
-
Linkage of the 'pure' recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
-
Hentati A, Pericack-Vance MA, Hung W-Y, Belal S, Laing N, Boustani RM, Hentati F, Hamida MB, Siddique T: Linkage of the 'pure' recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity [Abstract]. Hum Genet 1993, 53:1013.
-
(1993)
Hum Genet
, vol.53
, pp. 1013
-
-
Hentati, A.1
Pericack-Vance, M.A.2
Hung, W.-Y.3
Belal, S.4
Laing, N.5
Boustani, R.M.6
Hentati, F.7
Hamida, M.B.8
Siddique, T.9
-
35
-
-
0028872909
-
Autosomal dominant familial spastic paraplegia: Reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity
-
Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, Kreuz F, Weissenbach J, Auburger G: 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, 56:183-187.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 183-187
-
-
Gispert, S.1
Santos, N.2
Damen, R.3
Voit, T.4
Schulz, J.5
Klockgether, T.6
Orozco, G.7
Kreuz, F.8
Weissenbach, J.9
Auburger, G.10
-
36
-
-
0038913348
-
Linkage and heterogeneity in hereditary spastic paraparesis
-
in press
-
Lennon F, Gaskell PC, Woopert C, Aulsworth AS, Malin D, Warner C, Farell CD, Albright SG, Vance JM, Pericak-Vance MA: Linkage and heterogeneity in hereditary spastic paraparesis. Am J Hum Genet (suppl) 1995 (in press).
-
(1995)
Am J Hum Genet
, Issue.SUPPL.
-
-
Lennon, F.1
Gaskell, P.C.2
Woopert, C.3
Aulsworth, A.S.4
Malin, D.5
Warner, C.6
Farell, C.D.7
Albright, S.G.8
Vance, J.M.9
Pericak-Vance, M.A.10
-
37
-
-
0027981739
-
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
-
Hazan J, Fontaine B, Bruyn RPM, Lamy C, Van deutekom JCT, Rime CS, Durr A, Melki J, Lyoncaen O, Agid Y, Munnich A, Padberg GW, Derecondo J, Frants RR, Brice A, Weissenbach J: 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
Lamy, C.4
Van Deutekom, J.C.T.5
Rime, C.S.6
Durr, A.7
Melki, J.8
Lyoncaen, O.9
Agid, Y.10
Munnich, A.11
Padberg, G.W.12
Derecondo, J.13
Frants, R.R.14
Brice, A.15
Weissenbach, J.16
-
38
-
-
0028067709
-
Linkage of the late onset automal dominant familial spastic paraplegia to chromosome 2p markers
-
Hentati A, Pericak-Vance MA, Lennon F, Wasserman B, Hentati F, Juneja T, Angrist MH, Hung W, Boustany RM, Bohlega S, Iqbal Z, Huether CA, Ben Hamida M, Siddique T: Linkage of the late onset automal dominant familial spastic paraplegia to chromosome 2p markers. Hum Molec Genet 1994, 3:1867-1871.
-
(1994)
Hum Molec Genet
, vol.3
, pp. 1867-1871
-
-
Hentati, A.1
Pericak-Vance, M.A.2
Lennon, F.3
Wasserman, B.4
Hentati, F.5
Juneja, T.6
Angrist, M.H.7
Hung, W.8
Boustany, R.M.9
Bohlega, S.10
Iqbal, Z.11
Huether, C.A.12
Ben Hamida, M.13
Siddique, T.14
-
39
-
-
0006302434
-
Autosomal dominant familial spastic paraplegia: Linkage analysis and evidence for linkage to chromosome 2p
-
Figlewicz A, Dube MP, Farlow MR, Ebers G, Harper P, Kolodny E, Baumbach L, Rouleau GA: Autosomal dominant familial spastic paraplegia: linkage analysis and evidence for linkage to chromosome 2p. Am J Hum Genet 1994, 55(suppl): A 185.
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
-
-
Figlewicz, A.1
Dube, M.P.2
Farlow, M.R.3
Ebers, G.4
Harper, P.5
Kolodny, E.6
Baumbach, L.7
Rouleau, G.A.8
-
40
-
-
0015007588
-
-
Thuromon TF, Walker BA, Scott CI, Abbott MH: Birth Defects Original Article Series VII 1971, 1:219-221.
-
(1971)
Birth Defects Original Article Series VII
, vol.1
, pp. 219-221
-
-
Thuromon, T.F.1
Walker, B.A.2
Scott, C.I.3
Abbott, M.H.4
-
41
-
-
0017126169
-
X-linked recessive type of pure spastic paraplegia in a large pedigree: Absence of detectable linkage with Xg
-
Zastz M, Penha-Scrrano C, Otto PA: X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J Med Genet 1976, 13:217-222.
-
(1976)
J Med Genet
, vol.13
, pp. 217-222
-
-
Zastz, M.1
Penha-Scrrano, C.2
Otto, P.A.3
-
42
-
-
0029001756
-
X-linked pure familial spastic paraparesis: Characterization of a large kindred with magnetic resonance imaging studies
-
in press
-
Cambi F, Tartaglino L, Lublin FD, McCarren D: X-linked pure familial spastic paraparesis: characterization of a large kindred with magnetic resonance imaging studies. Arch Neurol 1995 (in press).
-
(1995)
Arch Neurol
-
-
Cambi, F.1
Tartaglino, L.2
Lublin, F.D.3
McCarren, D.4
-
44
-
-
0029940485
-
Report of the fourth international workshop on human chromosome2 mapping
-
Spurr NK, Bashir R, Bushby K, Cox A, Cox F, Hildebrandt N, Hill F-T, Kao L, Krols R, Marzella N, et al.: Report of the fourth international workshop on human chromosome2 mapping. Cytogenet Cell Genet 1996, 73:255-273.
-
(1996)
Cytogenet Cell Genet
, vol.73
, pp. 255-273
-
-
Spurr, N.K.1
Bashir, R.2
Bushby, K.3
Cox, A.4
Cox, F.5
Hildebrandt, N.6
Hill, F.-T.7
Kao, L.8
Krols, R.9
Marzella, N.10
-
45
-
-
0030010240
-
Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes
-
Fink JK, Jones SM, Sharp GB, Lange BM, Otterud B, Leppert M: Hereditary spastic paraplegia linked to chromosome 15q: analysis of candidate genes. Neurology 1996, 46:835-836.
-
(1996)
Neurology
, vol.46
, pp. 835-836
-
-
Fink, J.K.1
Jones, S.M.2
Sharp, G.B.3
Lange, B.M.4
Otterud, B.5
Leppert, M.6
-
46
-
-
0028309533
-
Genes with triplet repeats: A new class of mutations causing neurological diseases
-
Plassart E, Fontaine B: Genes with triplet repeats: a new class of mutations causing neurological diseases. Biomed Pharmacother 1994, 48:191-197.
-
(1994)
Biomed Pharmacother
, vol.48
, pp. 191-197
-
-
Plassart, E.1
Fontaine, B.2
-
47
-
-
0030992098
-
Homozygosity for an allele carrying intermediate CHE repeats in the dentatrubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia
-
Kurohara K, Kuroda Y, Maruyama A, Kawakami H, Yukitake M, Matsui M, Narakmura S: Homozygosity for an allele carrying intermediate CHE repeats in the dentatrubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia. Neurology 1997, 48:1087-1090.
-
(1997)
Neurology
, vol.48
, pp. 1087-1090
-
-
Kurohara, K.1
Kuroda, Y.2
Maruyama, A.3
Kawakami, H.4
Yukitake, M.5
Matsui, M.6
Narakmura, S.7
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