-
1
-
-
0015991082
-
Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease
-
Mellins RB, Hays AP, Gold AP, et al. Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. Pediatrics 1974;53:33-40.
-
(1974)
Pediatrics
, vol.53
, pp. 33-40
-
-
Mellins, R.B.1
Hays, A.P.2
Gold, A.P.3
-
2
-
-
0029926857
-
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of SMN gene deletion findings
-
Rudnik-Schöneborn S, Forkert R, Hahnen E, et al. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics 1996;27:8-15.
-
(1996)
Neuropediatrics
, vol.27
, pp. 8-15
-
-
Rudnik-Schöneborn, S.1
Forkert, R.2
Hahnen, E.3
-
5
-
-
18544398527
-
Diaphragmatic paralysis due to spinal muscular atrophy
-
Murphy NP, Davidson DC, Bouton J. Diaphragmatic paralysis due to spinal muscular atrophy. Arch Dis Child 1985;60:495.
-
(1985)
Arch Dis Child
, vol.60
, pp. 495
-
-
Murphy, N.P.1
Davidson, D.C.2
Bouton, J.3
-
6
-
-
0022330220
-
Neonatal spinal muscular atrophy presenting as respiratory distress: A clinical variant
-
Schapira D, Swash M. Neonatal spinal muscular atrophy presenting as respiratory distress: a clinical variant. Muscle Nerve 1985;8:661-663.
-
(1985)
Muscle Nerve
, vol.8
, pp. 661-663
-
-
Schapira, D.1
Swash, M.2
-
7
-
-
0023908558
-
Atypical infantile spinomuscular atrophy presenting as acute diaphragmatic paralysis
-
Bove KE, Iannaccone ST. Atypical infantile spinomuscular atrophy presenting as acute diaphragmatic paralysis. Pediatr Pathol 1988;8:95-107.
-
(1988)
Pediatr Pathol
, vol.8
, pp. 95-107
-
-
Bove, K.E.1
Iannaccone, S.T.2
-
8
-
-
0024469393
-
Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy
-
Bertini E, Gadisseux JL, Palmieri G, et al. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. Am J Med Genet 1989;33:328-335.
-
(1989)
Am J Med Genet
, vol.33
, pp. 328-335
-
-
Bertini, E.1
Gadisseux, J.L.2
Palmieri, G.3
-
9
-
-
0025238991
-
Akute respiratorische Insuffizienz als klinische Erstmanifestation der spinalen Muskelatrophie
-
Poets C, Heyer R, von der Hardt H, et al. Akute respiratorische Insuffizienz als klinische Erstmanifestation der spinalen Muskelatrophie. Monatsschr Kinderheilkd 1990;138:157-159.
-
(1990)
Monatsschr Kinderheilkd
, vol.138
, pp. 157-159
-
-
Poets, C.1
Heyer, R.2
Von Der Hardt, H.3
-
10
-
-
0025319056
-
Early diaphragmatic paralysis in infants with genetic disorders
-
Sivan Y, Galvis A. Early diaphragmatic paralysis in infants with genetic disorders. Clin Pediatr 1990;29:169-171.
-
(1990)
Clin Pediatr
, vol.29
, pp. 169-171
-
-
Sivan, Y.1
Galvis, A.2
-
11
-
-
0028917531
-
Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2q13
-
Novelli G, Capon F, Tamisari L, et al. Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2q13. J Med Genet 1995;32:216-219.
-
(1995)
J Med Genet
, vol.32
, pp. 216-219
-
-
Novelli, G.1
Capon, F.2
Tamisari, L.3
-
12
-
-
0033358195
-
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21
-
Grohmann K, Wienker TF, Saar K, et al. Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21. Am J Hum Genet 1999;65:1459-1462.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1459-1462
-
-
Grohmann, K.1
Wienker, T.F.2
Saar, K.3
-
13
-
-
17944374029
-
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
-
Grohmann K, Schuelke M, Diers A, et al. Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 2001;29:75-77.
-
(2001)
Nat Genet
, vol.29
, pp. 75-77
-
-
Grohmann, K.1
Schuelke, M.2
Diers, A.3
-
14
-
-
0035010811
-
Severe infantile axonal neuropathy with respiratory failure
-
Wilmshurst JM, Bye A, Rittey C, et al. Severe infantile axonal neuropathy with respiratory failure. Muscle Nerve 2001;24:760-768.
-
(2001)
Muscle Nerve
, vol.24
, pp. 760-768
-
-
Wilmshurst, J.M.1
Bye, A.2
Rittey, C.3
-
15
-
-
0035030358
-
Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement
-
Mohan U, Misra VP, Britto J, et al. Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement. Neuromuscular Disord 2001;11:395-399.
-
(2001)
Neuromuscular Disord
, vol.11
, pp. 395-399
-
-
Mohan, U.1
Misra, V.P.2
Britto, J.3
-
16
-
-
0035007358
-
Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14
-
McEntagart M, Norton N, Williams H, et al. Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. Am J Hum Genet 2001;68:1270-1276.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1270-1276
-
-
McEntagart, M.1
Norton, N.2
Williams, H.3
-
18
-
-
0030750954
-
Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region
-
Korinthenberg R, Sauer M, Ketelsen UP, et al. Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region. Ann Neurol 1997;42:364-368.
-
(1997)
Ann Neurol
, vol.42
, pp. 364-368
-
-
Korinthenberg, R.1
Sauer, M.2
Ketelsen, U.P.3
-
19
-
-
0031868502
-
Axonal neuropathy and predominance of type 11 myofibers in infantile spinal muscular atrophy
-
Omran H, Ketelsen U-P, Heinen F, et al. Axonal neuropathy and predominance of type 11 myofibers in infantile spinal muscular atrophy. J Child Neurol 1998;13:327-331.
-
(1998)
J Child Neurol
, vol.13
, pp. 327-331
-
-
Omran, H.1
Ketelsen, U.-P.2
Heinen, F.3
-
20
-
-
0036154096
-
Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: A role for Smn in RNA processing in motor axons?
-
Rossoll W, Kröning A-K, Ohndorf U-M, et al. Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons? Hum Mol Genet 2002;11:93-105.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 93-105
-
-
Rossoll, W.1
Kröning, A.-K.2
Ohndorf, U.-M.3
-
21
-
-
0042887389
-
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
-
McWhorter ML, Monani UR, Burghes AHM et al. Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol 2003;162:919-931.
-
(2003)
J Cell Biol
, vol.162
, pp. 919-931
-
-
McWhorter, M.L.1
Monani, U.R.2
Burghes, A.H.M.3
-
22
-
-
0037465776
-
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy
-
Rudnik-Schöneborn S, Goebel HH, Schlote W, et al. Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy. Neurology 2003;60:983-987.
-
(2003)
Neurology
, vol.60
, pp. 983-987
-
-
Rudnik-Schöneborn, S.1
Goebel, H.H.2
Schlote, W.3
-
23
-
-
0345704350
-
Novel IGHMBP2 mutations in spinal muscular atrophy with respiratory distress (SMARD1)
-
Viollet L, Zarhrate P, Burlet P, et al. Novel IGHMBP2 mutations in spinal muscular atrophy with respiratory distress (SMARD1). Am J Hum Genet 2002;71(suppl):286.
-
(2002)
Am J Hum Genet
, vol.71
, Issue.SUPPL.
, pp. 286
-
-
Viollet, L.1
Zarhrate, P.2
Burlet, P.3
|