-
1
-
-
0347229023
-
-
Russian source
-
-
-
-
2
-
-
0345967897
-
-
Russian source
-
-
-
-
3
-
-
0347859252
-
-
Russian source
-
-
-
-
4
-
-
0029010496
-
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation of CuZn superoxide dismutase
-
Andersen P.M., Nilsson P., Ala-Hurula V. et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation of CuZn superoxide dismutase. Nat Genet 1995; 10: 61-66.
-
(1995)
Nat Genet
, vol.10
, pp. 61-66
-
-
Andersen, P.M.1
Nilsson, P.2
Ala-Hurula, V.3
-
5
-
-
9544236295
-
Autosomal-recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn superoxide dismutase mutation. A clinical and genealogical study of 36 patients
-
Andersen P.M., Forsgren L., Binzer M. et al. Autosomal-recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 1996; 119: 1153-1172.
-
(1996)
Brain
, vol.119
, pp. 1153-1172
-
-
Andersen, P.M.1
Forsgren, L.2
Binzer, M.3
-
6
-
-
0030749160
-
Phenotypic heterogeneity in motor neuron disease patients with CuZn superoxide dismutase mutations in Scandinavia
-
Andersen P.M., Nilsson P., Keränen M.-L., Forsgren I. et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn superoxide dismutase mutations in Scandinavia. Brain 1997; 120: 1723-1737.
-
(1997)
Brain
, vol.120
, pp. 1723-1737
-
-
Andersen, P.M.1
Nilsson, P.2
Keränen, M.-L.3
Forsgren, I.4
-
7
-
-
0003119862
-
Reserches sur une maladie non encore décrite du sustéme musculaire (Atriphie musculaire progressive)
-
Aran F.A. Reserches sur une maladie non encore décrite du sustéme musculaire (Atriphie musculaire progressive). Arch Gen Med 1850; 24: 5-35.
-
(1850)
Arch Gen Med
, vol.24
, pp. 5-35
-
-
Aran, F.A.1
-
9
-
-
0028940996
-
Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis
-
Borchelt D.R., Lee M.K., Slunt Y.S. et al. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis. J Neurochem 1995; 64: 2366-2369.
-
(1995)
J Neurochem
, vol.64
, pp. 2366-2369
-
-
Borchelt, D.R.1
Lee, M.K.2
Slunt, Y.S.3
-
10
-
-
0028940996
-
Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis
-
Bowling A.C., Barkowsky E.E., McKenna-Yasek D. et al. Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis. J Neurochem 1995; 64: 2366-2369.
-
(1995)
J Neurochem
, vol.64
, pp. 2366-2369
-
-
Bowling, A.C.1
Barkowsky, E.E.2
McKenna-Yasek, D.3
-
12
-
-
0028142392
-
El Escorial World Federation criteria for the diagnosis of amyotrophic lateral sclerosis
-
Brooks B.R. El Escorial World Federation criteria for the diagnosis of amyotrophic lateral sclerosis. J Neurol Sci 1994; 124 Suppl: 96-107.
-
(1994)
J Neurol Sci
, vol.124
, Issue.SUPPL.
, pp. 96-107
-
-
Brooks, B.R.1
-
13
-
-
0003385353
-
Prognostic factors in motor neuron disease - a prospective study of longevity
-
F.C. Rose (ed.). London
-
Caroscio J.T., Calhoun W.F., Yahr M.D. Prognostic factors in motor neuron disease - a prospective study of longevity. F.C. Rose (ed.). Research progress in motor neuron disease. London 1994; 34-43.
-
(1994)
Research Progress in Motor Neuron Disease
, pp. 34-43
-
-
Caroscio, J.T.1
Calhoun, W.F.2
Yahr, M.D.3
-
14
-
-
0000280462
-
Deux cas atrophie musculaire progressive avec lésions de la substance grise et des faisceaux antéro-latéraux de la moële épinere
-
Charcot J.M., Joffroy A. Deux cas atrophie musculaire progressive avec lésions de la substance grise et des faisceaux antéro-latéraux de la moële épinere. Arch Physiol Norm Path 1869; 2: 744-760.
-
(1869)
Arch Physiol Norm Path
, vol.2
, pp. 744-760
-
-
Charcot, J.M.1
Joffroy, A.2
-
15
-
-
0023221049
-
Phenotypic and genotypic heterigeneity of dominantly inherited amyotrophic lateral sclerosis
-
Chio A., Brignolio F., Meineri P., Schiffer D. Phenotypic and genotypic heterigeneity of dominantly inherited amyotrophic lateral sclerosis. Acta Neurol Scand 1987; 75: 277-282.
-
(1987)
Acta Neurol Scand
, vol.75
, pp. 277-282
-
-
Chio, A.1
Brignolio, F.2
Meineri, P.3
Schiffer, D.4
-
16
-
-
0002051947
-
Familial motor neuron disease
-
P. Leigh, M. Swash (eds.). London: Springier-Verlag
-
De Belleroche J., Leigh P.N., Clifford Rose F. Familial motor neuron disease. P. Leigh, M. Swash (eds.). Motor neuron disease. London: Springier-Verlag 1995: 35-51.
-
(1995)
Motor Neuron Disease
, pp. 35-51
-
-
De Belleroche, J.1
Leigh, P.N.2
Clifford Rose, F.3
-
17
-
-
0029003428
-
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis
-
Deng H.X., Tainer J.A., Mitsumoto H., Ohnishi A. et al. Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1113-1116.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1113-1116
-
-
Deng, H.X.1
Tainer, J.A.2
Mitsumoto, H.3
Ohnishi, A.4
-
18
-
-
0038803549
-
Paralyse musculaire progressive de la langue, du voile du palais et des lévres: Affection non encore décrite comme espéce morbide distincte
-
Duchenne de Boulogne G.B.A. Paralyse musculaire progressive de la langue, du voile du palais et des lévres: affection non encore décrite comme espéce morbide distincte. Arch Med Gen 1860; 16: 283: 431.
-
(1860)
Arch Med Gen
, vol.16
, Issue.283
, pp. 431
-
-
Duchenne De Boulogne, G.B.A.1
-
19
-
-
0020392683
-
Familial motor neuron disease
-
L.P. Rowland (ed.). New York
-
Emery A., Holloway S. Familial motor neuron disease. L.P. Rowland (ed.). Human motor neuron diseases. New York 1982; 139-147.
-
(1982)
Human Motor Neuron Diseases
, pp. 139-147
-
-
Emery, A.1
Holloway, S.2
-
20
-
-
0028244477
-
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis
-
Esteban J., Rosen D.R., Bowling A.C. et al. Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 997-998.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 997-998
-
-
Esteban, J.1
Rosen, D.R.2
Bowling, A.C.3
-
22
-
-
0021927646
-
Amyotrophic lateral sclerosis. A study of its presentation and prognosis
-
Gubbay S.S., Kahana E., Zilber N. et al. Amyotrophic lateral sclerosis. A study of its presentation and prognosis. J Neurol 1985; 232: 295-300.
-
(1985)
J Neurol
, vol.232
, pp. 295-300
-
-
Gubbay, S.S.1
Kahana, E.2
Zilber, N.3
-
23
-
-
0028284779
-
Motor neuron degeneration in mice that express a human CuZn superoxide dismutase mutation
-
published erratum appears in Science 1995; 269: 149
-
Gurney M.E., Pu H., Chiu A.Y. et al. Motor neuron degeneration in mice that express a human CuZn superoxide dismutase mutation [see comments] [published erratum appears in Science 1995; 269: 149]. Science 1994; 264: 1772-1775. Comment in Science 1994; 264: 163-164. Comment in Science 1994; 266: 1586-1587.
-
(1994)
Science
, vol.264
, pp. 1772-1775
-
-
Gurney, M.E.1
Pu, H.2
Chiu, A.Y.3
-
24
-
-
0346599241
-
-
Gurney M.E., Pu H., Chiu A.Y. et al. Motor neuron degeneration in mice that express a human CuZn superoxide dismutase mutation [see comments] [published erratum appears in Science 1995; 269: 149]. Science 1994; 264: 1772-1775. Comment in Science 1994; 264: 163-164. Comment in Science 1994; 266: 1586-1587.
-
(1994)
Comment in Science
, vol.264
, pp. 163-164
-
-
-
25
-
-
0028670876
-
-
Gurney M.E., Pu H., Chiu A.Y. et al. Motor neuron degeneration in mice that express a human CuZn superoxide dismutase mutation [see comments] [published erratum appears in Science 1995; 269: 149]. Science 1994; 264: 1772-1775. Comment in Science 1994; 264: 163-164. Comment in Science 1994; 266: 1586-1587.
-
(1994)
Comment in Science
, vol.266
, pp. 1586-1587
-
-
-
26
-
-
0029037348
-
Natural history of amyotrophic lateral sclerosis in a database population
-
Havekamp L.J., Appel V., Appel S.H. Natural history of amyotrophic lateral sclerosis in a database population. Brain 1995; 118: 707-719.
-
(1995)
Brain
, vol.118
, pp. 707-719
-
-
Havekamp, L.J.1
Appel, V.2
Appel, S.H.3
-
27
-
-
0017182853
-
Familial motor neuron disease. Evidence for at least three different types
-
Horton B.A., Eldridge R., Brody J.A. Familial motor neuron disease. Evidence for at least three different types. Neurology 1976; 26: 460-465.
-
(1976)
Neurology
, vol.26
, pp. 460-465
-
-
Horton, B.A.1
Eldridge, R.2
Brody, J.A.3
-
28
-
-
0019850528
-
Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurological disorders: A review
-
Hudson A.J. Amyotrophic lateral sclerosis and its association with dementia, parkinsonism and other neurological disorders: a review. [Review]. Brain 1981; 104: 217-247.
-
(1981)
Brain
, vol.104
, pp. 217-247
-
-
Hudson, A.J.1
-
29
-
-
0005376692
-
Mutations in SOD-1 in sporadic ALS [abstract]
-
Jackson M., Al-Chalabi A., Enayat Z.E. et al. Mutations in SOD-1 in sporadic ALS [abstract]. Am J Hum Genet 1996; 59: Suppl A: 265.
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL. A
, pp. 265
-
-
Jackson, M.1
Al-Chalabi, A.2
Enayat, Z.E.3
-
30
-
-
0028273306
-
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and detection o Ile113Thr in three others
-
Jones C.T., Swingler R.J., Brock D.J.H. Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and detection o Ile113Thr in three others. Hum Mol Genet 1994; 3: 649-650.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 649-650
-
-
Jones, C.T.1
Swingler, R.J.2
Brock, D.J.H.3
-
31
-
-
0027944708
-
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient
-
Jones C.T., Shaw P.J., Chari G., Brock D.J.H. Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol Cell Probes 1994; 8: 329-330.
-
(1994)
Mol Cell Probes
, vol.8
, pp. 329-330
-
-
Jones, C.T.1
Shaw, P.J.2
Chari, G.3
Brock, D.J.H.4
-
32
-
-
0028916910
-
Superoxide dismutase mutations in an unselecyed cohort of Scottish amyotrophic lateral sclerosis
-
Jones C.T., Swingler R.J., Simpson S.A., Brock D.J.H. Superoxide dismutase mutations in an unselecyed cohort of Scottish amyotrophic lateral sclerosis. J Med Genet 1995; 32: 290-292.
-
(1995)
J Med Genet
, vol.32
, pp. 290-292
-
-
Jones, C.T.1
Swingler, R.J.2
Simpson, S.A.3
Brock, D.J.H.4
-
33
-
-
0005366063
-
Atypical familial amyotrophic lateral sclerosis [abstract]
-
Kaplan J.P., Brooks B.R., Mitsumoto H. et al. Atypical familial amyotrophic lateral sclerosis [abstract]. Am J Hum Genet 1996; 59 Suppl: A265.
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
-
-
Kaplan, J.P.1
Brooks, B.R.2
Mitsumoto, H.3
-
35
-
-
0017762928
-
Motor neuron disease. Prognosis and epidemiology
-
Kristensen M., Melgaard B. Motor neuron disease. Prognosis and epidemiology. Acta Neurol Scand 1977; 56: 299-308.
-
(1977)
Acta Neurol Scand
, vol.56
, pp. 299-308
-
-
Kristensen, M.1
Melgaard, B.2
-
36
-
-
77049209200
-
Epidemiologic investigations of amyotrophic lateral sclerosis. Familial aggregations indicative of dominant inheritance. Part I, II
-
Kurland L.T., Mulder D.W. Epidemiologic investigations of amyotrophic lateral sclerosis. Familial aggregations indicative of dominant inheritance. Part I, II. Neurology 1955; 5: 182-196; 249-268.
-
(1955)
Neurology
, vol.5
, pp. 182-196
-
-
Kurland, L.T.1
Mulder, D.W.2
-
39
-
-
0022443737
-
Familial adult motor neuron disease: Amyotrophic lateral sclerosis
-
Mulder D.W., Kurland L.T., Offord K.P., Beard C.M. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology 1986; 36: 511-517.
-
(1986)
Neurology
, vol.36
, pp. 511-517
-
-
Mulder, D.W.1
Kurland, L.T.2
Offord, K.P.3
Beard, C.M.4
-
40
-
-
0016251677
-
Administration of guanidine in amyotrophic lateral sclerosis
-
Norris F.N., Callachini P.R., Fallat R.J. et al. Administration of guanidine in amyotrophic lateral sclerosis. Neurology 1974; 24: 721-728.
-
(1974)
Neurology
, vol.24
, pp. 721-728
-
-
Norris, F.N.1
Callachini, P.R.2
Fallat, R.J.3
-
41
-
-
0028915976
-
Mutations associated with amyotrophic lateral sclerosis from an antiapoptotic gene to a proapoptotic gene: Studies in yeast and neural cells
-
Rabizadeh S., Gralla E.B., Borchelt D.R. et al. Mutations associated with amyotrophic lateral sclerosis from an antiapoptotic gene to a proapoptotic gene: studies in yeast and neural cells. Proc Natl Acad Sci USA 1995; 92: 3024-3028.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 3024-3028
-
-
Rabizadeh, S.1
Gralla, E.B.2
Borchelt, D.R.3
-
42
-
-
0030450004
-
Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis. Correlation between genotype and clinical features
-
Review
-
Radunovic A., Leigh P.N. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis. Correlation between genotype and clinical features. [Review]. J Neurol Neurosurg Psychiat 1996; 61: 565-572.
-
(1996)
J Neurol Neurosurg Psychiat
, vol.61
, pp. 565-572
-
-
Radunovic, A.1
Leigh, P.N.2
-
43
-
-
0029854883
-
D90A heterozygosity in SOD-1 gene in associated with familial and apparently sporadic amyotrophic lateral sclerosis
-
Nov
-
Robberecht W., Aguirre T., Van-den-Bosch L. et al. D90A heterozygosity in SOD-1 gene in associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology 1996; Nov: 47: 5: 1336-1339.
-
(1996)
Neurology
, vol.47
, Issue.5
, pp. 1336-1339
-
-
Robberecht, W.1
Aguirre, T.2
Van-den-Bosch, L.3
-
44
-
-
0017330502
-
Studies on eoidemiological, clinical and ethiological aspects of ALS disease in Sardinia. Southern Italy
-
Rosati G., Pinna L., Granieri E. et al. Studies on eoidemiological, clinical and ethiological aspects of ALS disease in Sardinia. Southern Italy. Acta Neurol Scand 1977; 55: 231-244.
-
(1977)
Acta Neurol Scand
, vol.55
, pp. 231-244
-
-
Rosati, G.1
Pinna, L.2
Granieri, E.3
-
45
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase are associated with familial amyotrophic lateral sclerosis
-
published erratum appears in Nature 1993; 364: 362 [see comments]
-
Rosen D.R., Siddique T., Patterson D. et al. Mutations in Cu/Zn superoxide dismutase are associated with familial amyotrophic lateral sclerosis. [published erratum appears in Nature 1993; 364: 362] [see comments]. Nature 1993; 362: 59-62. Comment in: Nature 1993; 362: 20-21.
-
(1993)
Nature
, vol.362
, pp. 59-62
-
-
Rosen, D.R.1
Siddique, T.2
Patterson, D.3
-
46
-
-
0345046828
-
-
Comment
-
Rosen D.R., Siddique T., Patterson D. et al. Mutations in Cu/Zn superoxide dismutase are associated with familial amyotrophic lateral sclerosis. [published erratum appears in Nature 1993; 364: 362] [see comments]. Nature 1993; 362: 59-62. Comment in: Nature 1993; 362: 20-21.
-
(1993)
Nature
, vol.362
, pp. 20-21
-
-
-
47
-
-
0020435605
-
Diverse forms of motor neuron diseases
-
L.P. Rowland (ed.). New York: Raven Press
-
Rowland L.P. Diverse forms of motor neuron diseases. L.P. Rowland (ed.). Human motor neuron diseases. New York: Raven Press 1982; 1-13.
-
(1982)
Human Motor Neuron Diseases
, pp. 1-13
-
-
Rowland, L.P.1
-
48
-
-
0000035493
-
Primary degeneration of the pyramidal tracts: A study of eight cases with necrophy
-
Spiller W.G. Primary degeneration of the pyramidal tracts: a study of eight cases with necrophy. Univ Pa Med Bull 1904; 17: 390-395.
-
(1904)
Univ Pa Med Bull
, vol.17
, pp. 390-395
-
-
Spiller, W.G.1
-
49
-
-
0028598738
-
"Sporadic" motor neuron disease due to familial SOD1 mutation with low penetrance
-
Suthers G., Laing N., Wilton S. et al. "Sporadic" motor neuron disease due to familial SOD1 mutation with low penetrance [letter]. Lancet 1994; 344: 1773.
-
(1994)
Lancet
, vol.344
, pp. 1773
-
-
Suthers, G.1
Laing, N.2
Wilton, S.3
-
50
-
-
0002401575
-
Motor neuron disease: The Clinical Syndrome
-
P. Leigh, M. Swash (eds.). London: Springler-Verlag
-
Swash M., Swartz M.S. Motor neuron disease: The Clinical Syndrome. P. Leigh, M. Swash (eds.). Motor neuron disease. London: Springler-Verlag 1995; 1-17.
-
(1995)
Motor Neuron Disease
, pp. 1-17
-
-
Swash, M.1
Swartz, M.S.2
-
51
-
-
0027997236
-
Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis
-
Tsuda T., Munthasser S., Fraser P.E. et al. Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis. Neuron 1994; 13: 727-736.
-
(1994)
Neuron
, vol.13
, pp. 727-736
-
-
Tsuda, T.1
Munthasser, S.2
Fraser, P.E.3
-
52
-
-
0023759628
-
Familial motor neuron disease: Differing penetrance in large pedigrees
-
Williams D.B., Floate D.A., Leicester J. Familial motor neuron disease: differing penetrance in large pedigrees. J Neurol Sci 1988; 86: 215-230.
-
(1988)
J Neurol Sci
, vol.86
, pp. 215-230
-
-
Williams, D.B.1
Floate, D.A.2
Leicester, J.3
-
53
-
-
0004158194
-
-
London: Edward Arnold
-
Wilson S.A.K. Neurology. London: Edward Arnold 1940; 1028-1029.
-
(1940)
Neurology
, pp. 1028-1029
-
-
Wilson, S.A.K.1
|