-
1
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
-
2
-
-
0018120729
-
Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease
-
Berl
-
Carpenter S, Karpati G, Rothman S, Watters G, Andermann F. Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease. Acta Neuropathol (Berl) 1978;42: 91-97.
-
(1978)
Acta Neuropathol
, vol.42
, pp. 91-97
-
-
Carpenter, S.1
Karpati, G.2
Rothman, S.3
Watters, G.4
Andermann, F.5
-
3
-
-
0343752065
-
Distribution of affected nerve cells in amyotonia congenita (second case)
-
Conel JL. Distribution of affected nerve cells in amyotonia congenita (second case). Arch Pathol 1940;30:153-164.
-
(1940)
Arch Pathol
, vol.30
, pp. 153-164
-
-
Conel, J.L.1
-
4
-
-
0020029981
-
Morphological and morphometric studies on the spinal cord lesion in Werdnig-Hoffmann disease
-
Kumagai T, Hashizume Y. Morphological and morphometric studies on the spinal cord lesion in Werdnig-Hoffmann disease. Brain Dev 1982;4:87-96.
-
(1982)
Brain Dev
, vol.4
, pp. 87-96
-
-
Kumagai, T.1
Hashizume, Y.2
-
6
-
-
0030051493
-
t) gene deletions in asymptomatic carriers of spinal muscular atrophy
-
t) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet 1995;5:359-365.
-
(1995)
Hum Mol Genet
, vol.5
, pp. 359-365
-
-
Ch, W.1
Xu, J.2
Carter, T.A.3
-
7
-
-
0028785098
-
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
-
Hehnen E, Forkert R, Marke C, et al. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 1995;4:1927-1933.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1927-1933
-
-
Hehnen, E.1
Forkert, R.2
Marke, C.3
-
8
-
-
0018948433
-
Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease
-
Steiman GS, Rorke LB, Brown MJ. Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease. Ann Neurol 1980;8:317-324.
-
(1980)
Ann Neurol
, vol.8
, pp. 317-324
-
-
Steiman, G.S.1
Rorke, L.B.2
Brown, M.J.3
-
9
-
-
0026687901
-
Use of paraffin wax embedded bone marrow trephine biopsy specimens as a source of archival DNA
-
Provan A, Hodges E, Smith A, Smith J. Use of paraffin wax embedded bone marrow trephine biopsy specimens as a source of archival DNA. J Clin Pathol 1992;45:763-765.
-
(1992)
J Clin Pathol
, vol.45
, pp. 763-765
-
-
Provan, A.1
Hodges, E.2
Smith, A.3
Smith, J.4
-
10
-
-
0028922174
-
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
-
van der Steege G, Grootscholten PM, van der Vlies P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985-986.
-
(1995)
Lancet
, vol.345
, pp. 985-986
-
-
Steege, G.1
Grootscholten, P.M.2
Van Der Vlies, P.3
-
12
-
-
0006510004
-
Etude anatomique d'un cas d'arthrogrypose multiple congenitale et familiale
-
Paris
-
Bargeton E, Nezelof C, Guran P, Job JC. Etude anatomique d'un cas d'arthrogrypose multiple congenitale et familiale. Rev Neurol (Paris) 1961;104:479-489.
-
(1961)
Rev Neurol
, vol.104
, pp. 479-489
-
-
Bargeton, E.1
Nezelof, C.2
Guran, P.3
Job, J.C.4
-
13
-
-
0028604469
-
The association of cortical dysplasia and anterior horn arthrogryposis: A case report
-
Hageman G, Hoogenraad TU, Prevo RL. The association of cortical dysplasia and anterior horn arthrogryposis: a case report. Brain Dev 1994;16:463-466.
-
(1994)
Brain Dev
, vol.16
, pp. 463-466
-
-
Hageman, G.1
Hoogenraad, T.U.2
Prevo, R.L.3
-
14
-
-
0011907980
-
Hereditary non-progressive muscular dystrophy inducing arthrogryposis syndrome
-
Pearson CM, Fowler WM Jr. Hereditary non-progressive muscular dystrophy inducing arthrogryposis syndrome. Brain 1963;86:75-88.
-
(1963)
Brain
, vol.86
, pp. 75-88
-
-
Pearson, C.M.1
Fowler W.M., Jr.2
-
17
-
-
0027057672
-
Meeting report: International SMA Consortium meeting, 26-28 June, 1992, Bonn, Germany
-
Munsat TL, Davies KE. Meeting report: International SMA Consortium meeting, 26-28 June, 1992, Bonn, Germany. Neuromusc Dis 1992;2:423-428.
-
(1992)
Neuromusc Dis
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.E.2
-
18
-
-
0029834810
-
Clinical and molecular features of congenital spinal muscular atrophy
-
Devriendt K, Lammens M, Schollen E, et al. Clinical and molecular features of congenital spinal muscular atrophy. Ann Neurol 1996;40:731-738.
-
(1996)
Ann Neurol
, vol.40
, pp. 731-738
-
-
Devriendt, K.1
Lammens, M.2
Schollen, E.3
-
19
-
-
0014706668
-
Pathological findings in Werdnig-Hoffmann's disease with special remarks on diencephalic lesions
-
Nieves GM, Castello JC. Pathological findings in Werdnig-Hoffmann's disease with special remarks on diencephalic lesions. Eur J Neurol 1970;3:231-240.
-
(1970)
Eur J Neurol
, vol.3
, pp. 231-240
-
-
Nieves, G.M.1
Castello, J.C.2
-
20
-
-
0038214224
-
Cerebello-thalamo-spinal degeneration in infancy: An unusual variant of Werdnig-Hoffmann disease
-
Norman RM, Kay JM. Cerebello-thalamo-spinal degeneration in infancy: an unusual variant of Werdnig-Hoffmann disease. Arch Dis Child 1965;40:302-308.
-
(1965)
Arch Dis Child
, vol.40
, pp. 302-308
-
-
Norman, R.M.1
Kay, J.M.2
-
21
-
-
77951329097
-
L'amyotrophie spinale de l'enfance (Werdnig-Hoffmann) comme heredo-degenerescence
-
Paris
-
Radermecker J. L'amyotrophie spinale de l'enfance (Werdnig-Hoffmann) comme heredo-degenerescence. Rev Neurol (Paris) 1951;84:14-31.
-
(1951)
Rev Neurol
, vol.84
, pp. 14-31
-
-
Radermecker, J.1
-
22
-
-
0021931762
-
Is Werdnig-Hoffmann disease a pure lower motor neuron disorder?
-
Berl
-
Towfighi J, Young RSK, Ward RM. Is Werdnig-Hoffmann disease a pure lower motor neuron disorder? Acta Neuropathol (Berl) 1985;65:270-280.
-
(1985)
Acta Neuropathol
, vol.65
, pp. 270-280
-
-
Towfighi, J.1
Young, R.S.K.2
Ward, R.M.3
-
23
-
-
0016765432
-
Sensory system involvement in infantile spinal muscular atrophy
-
Marshall A, Duchen LW. Sensory system involvement in infantile spinal muscular atrophy. J Neurol Sci 1975;26:349-359.
-
(1975)
J Neurol Sci
, vol.26
, pp. 349-359
-
-
Marshall, A.1
Duchen, L.W.2
-
24
-
-
0023387512
-
Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons
-
Henderson CE, Hauser SL, Huchet M, et al. Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons. Neurology 1987; 37:1361.
-
(1987)
Neurology
, vol.37
, pp. 1361
-
-
Henderson, C.E.1
Hauser, S.L.2
Huchet, M.3
|