DOI: 10.1212/wnl.49.3.848. Arthrogryposis due to infantile neuronal degeneration associated with deletion of the <i> SMN <sup>T</sup> </i> gene [Penn]

Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMN T gene

10.1212/wnl.49.3.848

Crossref journal-article

Ovid Technologies (Wolters Kluwer Health)

Neurology (276)

Authors 7

P. M. Bingham (first)
N. Shen (additional)
H. Rennert (additional)
L. B. Rorke (additional)
A. W. Black (additional)
M. Marin-Padilla (additional)
R. E. Nordgren (additional)

References 24 Referenced 54

10.1016/0092-8674(95)90442-5
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. / Acta Neuropathol (Berl) (1978)
Conel JL. Distribution of affected nerve cells in amyotonia congenita (second case). Arch Pathol 1940;30:153-164. / Arch Pathol (1940)
Kumagai T, Hashizume Y. Morphological and morphometric studies on the spinal cord lesion in Werdnig-Hoffmann disease. Brain Dev 1982;4:87-96. / Brain Dev (1982)
Bürglen L, Spiegel R, Ignatius J, et al. SMN gene deletion in variant of infantile spinal muscular atrophy. Lancet 1995;346:316-317. / Lancet (1995)
Wang CH, Xu J, Carter TA, et al. Characterization of survival motor neuron (SMNt) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet 1995;5:359-365. / Hum Mol Genet (1995)
10.1093/hmg/4.1.1
Steiman GS, Rorke LB, Brown MJ. Infantile neuronal degeneration masquerading as Werdnig-Hoffmann disease. Ann Neurol 1980;8:317-324. / Ann Neurol (1980)
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. / J Clin Pathol (1992)
10.1016/S0140-6736(95)91150-2
Frischknecht W, Bianchi L, Pilleri G. Familial arthrogryposis multiplex congenita. Helv Paediat Acta 1960;15:259-279. / Helv Paediat Acta (1960)
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. / Rev Neurol (Paris) (1961)
Hageman G, Hoogenraad TU, Prevo RL. The association of cortical dysplasia and anterior horn arthrogryposis: a case report. Brain Dev 1994;16:463-466. / Brain Dev (1994)
Pearson CM, Fowler WM Jr. Hereditary non-progressive muscular dystrophy inducing arthrogryposis syndrome. Brain 1963;86:75-88. / Brain (1963)
Dubowitz V. Muscle disorders in childhood. London: W.B. Saunders 1978:149.
Byers RK, Banker BQ. Infantile muscular atrophy. Arch Neurol 1961;5:38-62. / Arch Neurol (1961)
Munsat TL, Davies KE. Meeting report: International SMA Consortium meeting, 26-28 June, 1992, Bonn, Germany. Neuromusc Dis 1992;2:423-428. / Neuromusc Dis (1992)
Devriendt K, Lammens M, Schollen E, et al. Clinical and molecular features of congenital spinal muscular atrophy. Ann Neurol 1996;40:731-738. / Ann Neurol (1996)
Nieves GM, Castello JC. Pathological findings in Werdnig-Hoffmann's disease with special remarks on diencephalic lesions. Eur J Neurol 1970;3:231-240. / Eur J Neurol (1970)
Norman RM, Kay JM. Cerebello-thalamo-spinal degeneration in infancy: an unusual variant of Werdnig-Hoffmann disease. Arch Dis Child 1965;40:302-308. / Arch Dis Child (1965)
Radermecker J. L'amyotrophie spinale de l'enfance(Werdnig-Hoffmann) comme heredo-degenerescence. Rev Neurol (Paris) 1951;84:14-31. / Rev Neurol (Paris) (1951)
Towfighi J, Young RSK, Ward RM. Is Werdnig-Hoffmann disease a pure lower motor neuron disorder? Acta Neuropathol (Berl) 1985;65:270-280. / Is Werdnig-Hoffmann disease a pure lower motor neuron disorder? Acta Neuropathol (Berl) (1985)
Marshall A, Duchen LW. Sensory system involvement in infantile spinal muscular atrophy. J Neurol Sci 1975;26:349-359. / J Neurol Sci (1975)
10.1212/WNL.37.1.1

Dates

Type	When
Created	13 years, 3 months ago (May 13, 2012, 9:29 a.m.)
Deposited	1 year, 5 months ago (March 27, 2024, 11:44 a.m.)
Indexed	5 months, 1 week ago (March 22, 2025, 5:34 a.m.)
Issued	27 years, 11 months ago (Sept. 1, 1997)
Published	27 years, 11 months ago (Sept. 1, 1997)
Published Print	27 years, 11 months ago (Sept. 1, 1997)

Funders 0

None

BibTeX

@article{Bingham_1997, title={Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMN T gene}, volume={49}, ISSN={1526-632X}, url={http://dx.doi.org/10.1212/wnl.49.3.848}, DOI={10.1212/wnl.49.3.848}, number={3}, journal={Neurology}, publisher={Ovid Technologies (Wolters Kluwer Health)}, author={Bingham, P. M. and Shen, N. and Rennert, H. and Rorke, L. B. and Black, A. W. and Marin-Padilla, M. and Nordgren, R. E.}, year={1997}, month=sep, pages={848–851} }

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