-
1
-
-
0030776040
-
Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system
-
Battaglia G, Princivalle A, Forti F, Lizier C, Zeviani M (1997) Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum Mol Genet 6:1961-1971
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1961-1971
-
-
Battaglia, G.1
Princivalle, A.2
Forti, F.3
Lizier, C.4
Zeviani, M.5
-
2
-
-
0032921750
-
Subcellular distribution of SMN protein: Possible involvement in nucleoplasmic and dendritic transport
-
Béchade C, Rostaing P, Cisterni C, Kalisch R, La Bella V, Pettmann B, Triller A (1999) Subcellular distribution of SMN protein: possible involvement in nucleoplasmic and dendritic transport. Eur J Neurosci 11:293-304
-
(1999)
Eur J Neurosci
, vol.11
, pp. 293-304
-
-
Béchade, C.1
Rostaing, P.2
Cisterni, C.3
Kalisch, R.4
La Bella, V.5
Pettmann, B.6
Triller, A.7
-
3
-
-
28044453501
-
Transmission ration distortion in the spinal muscular atrophy locus: Data from 314 prenatal tests
-
Botta A, Tacconelli A, Bagni I, Giardina E, Bonifazi E, Pietropolli A, Clementi M, Novelli G (2005) Transmission ration distortion in the spinal muscular atrophy locus: Data from 314 prenatal tests. Neurology 65:1631-1635
-
(2005)
Neurology
, vol.65
, pp. 1631-1635
-
-
Botta, A.1
Tacconelli, A.2
Bagni, I.3
Giardina, E.4
Bonifazi, E.5
Pietropolli, A.6
Clementi, M.7
Novelli, G.8
-
4
-
-
0021691138
-
Astrocytic proteins in the dorsal and ventral roots in amyotrophic lateral sclerosis and Werdnig-Hoffmann disease
-
Brock TO, McIlwain DL (1984) Astrocytic proteins in the dorsal and ventral roots in amyotrophic lateral sclerosis and Werdnig-Hoffmann disease. J Neuropahol Exp Neurol 43:609-619
-
(1984)
J Neuropahol Exp Neurol
, vol.43
, pp. 609-619
-
-
Brock, T.O.1
McIlwain, D.L.2
-
5
-
-
0029880997
-
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease
-
Burlet P, Burglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J (1996) Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J Med Genet 33:281-283
-
(1996)
J Med Genet
, vol.33
, pp. 281-283
-
-
Burlet, P.1
Burglen, L.2
Clermont, O.3
Lefebvre, S.4
Viollet, L.5
Munnich, A.6
Melki, J.7
-
6
-
-
0034639998
-
Direct interaction of SMN with dp103, a putative RNA helicase: A role for SMN in transcription regulation?
-
Campbell L, Hunter KM, Mohaghegh P, Tinsley JM Brasch MA, Davies KE (2000) Direct interaction of SMN with dp103, a putative RNA helicase: A role for SMN in transcription regulation? Hum Mol Genet 9:1093-1100
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1093-1100
-
-
Campbell, L.1
Hunter, K.M.2
Mohaghegh, P.3
Tinsley, J.M.4
Brasch, M.A.5
Davies, K.E.6
-
7
-
-
0027245689
-
Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family
-
Camu W, Billiard M (1993) Coexistence of amyotrophic lateral sclerosis and Werdnig-Hoffmann disease within a family. Muscle Nerve 16:569-570
-
(1993)
Muscle Nerve
, vol.16
, pp. 569-570
-
-
Camu, W.1
Billiard, M.2
-
8
-
-
33751100104
-
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis
-
Carrel TL, McWhorter ML, Workman E, Zhang H, Wolstencroft EC, Lorson C, Bassell GJ, Burghes AH, Beattie CE (2006) Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. J Neurosci 26:11014-11022
-
(2006)
J Neurosci
, vol.26
, pp. 11014-11022
-
-
Carrel, T.L.1
McWhorter, M.L.2
Workman, E.3
Zhang, H.4
Wolstencroft, E.C.5
Lorson, C.6
Bassell, G.J.7
Burghes, A.H.8
Beattie, C.E.9
-
9
-
-
0030670844
-
Aberrant glycosylation/phoshorylation in chromatolytic motoneurons of Werdnig-Hoffmann disease
-
Chou SM, Wang HS (1997) Aberrant glycosylation/phoshorylation in chromatolytic motoneurons of Werdnig-Hoffmann disease. J Neurol Sci 152:198-209
-
(1997)
J Neurol Sci
, vol.152
, pp. 198-209
-
-
Chou, S.M.1
Wang, H.S.2
-
10
-
-
0025283961
-
Developmental cell death: Morphological diversity and multiple mechanisms
-
Clarke PGH (1990) Developmental cell death: Morphological diversity and multiple mechanisms. Anat Embryol 181:195-213
-
(1990)
Anat Embryol
, vol.181
, pp. 195-213
-
-
Clarke, P.G.H.1
-
11
-
-
33749848158
-
SMN1 gene, but not SMN2, is a risk factor for sporadic ALS
-
Corcia P, Camu W, Halimi JM, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres CR (2006) SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology 67:1147-1150
-
(2006)
Neurology
, vol.67
, pp. 1147-1150
-
-
Corcia, P.1
Camu, W.2
Halimi, J.M.3
Vourc'h, P.4
Antar, C.5
Vedrine, S.6
Giraudeau, B.7
de Toffol, B.8
Andres, C.R.9
-
12
-
-
31544446845
-
SMN copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings
-
Cuscó I, Barceló MJ, Rojas-García R, Illa I, Gamez J, Cervera C, Pou A, Izquierdo G, Baiget M, Tizzano EF (2006) SMN copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol 253:21-25
-
(2006)
J Neurol
, vol.253
, pp. 21-25
-
-
Cuscó, I.1
Barceló, M.J.2
Rojas-García, R.3
Illa, I.4
Gamez, J.5
Cervera, C.6
Pou, A.7
Izquierdo, G.8
Baiget, M.9
Tizzano, E.F.10
-
13
-
-
0002428443
-
Disorders of the lower motor neuron, the spinal muscular atrophy
-
In: Dubowitz V (ed) Saunders, London
-
Dubowitz V (1995) Disorders of the lower motor neuron, the spinal muscular atrophy. In: Dubowitz V (ed) Muscle disorders in childhood. Saunders, London, pp 325-369
-
(1995)
Muscle Disorders in Childhood
, pp. 325-369
-
-
Dubowitz, V.1
-
14
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time light-cycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B (2002) Quantitative analyses of SMN1 and SMN2 based on real-time light-cycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70:358-368
-
(2002)
Am J Hum Genet
, vol.70
, pp. 358-368
-
-
Feldkötter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
15
-
-
0036941003
-
Motoneuron death in normal and spinal muscular atrophy-affected human fetuses
-
Fidziańska A, Rafalowska J (2002) Motoneuron death in normal and spinal muscular atrophy-affected human fetuses. Acta Neuropathol 104:363-368
-
(2002)
Acta Neuropathol
, vol.104
, pp. 363-368
-
-
Fidziańska, A.1
Rafalowska, J.2
-
16
-
-
0030928716
-
The SMN-SIP1 complex has an essential role in spliceosome biogenesis
-
Fischer U, Liu Q, Dreyfuss G (1997) The SMN-SIP1 complex has an essential role in spliceosome biogenesis. Cell 90:1023-1029
-
(1997)
Cell
, vol.90
, pp. 1023-1029
-
-
Fischer, U.1
Liu, Q.2
Dreyfuss, G.3
-
17
-
-
34250753161
-
Cell death modalities: Classification and pathophysiological implications
-
Galluzzi L, Maiuri MC, Vitale I, Zischka H, Castedo M, Zitvoogel L, Kroemer G (2007) Cell death modalities: Classification and pathophysiological implications. Cell Death Diff 14:1237-1243
-
(2007)
Cell Death Diff
, vol.14
, pp. 1237-1243
-
-
Galluzzi, L.1
Maiuri, M.C.2
Vitale, I.3
Zischka, H.4
Castedo, M.5
Zitvoogel, L.6
Kroemer, G.7
-
18
-
-
0018175156
-
Spinal roots in Werdnig-Hoffmann disease
-
Ghatak NR (1978) Spinal roots in Werdnig-Hoffmann disease. Acta Neuropathol 41:1-7
-
(1978)
Acta Neuropathol
, vol.41
, pp. 1-7
-
-
Ghatak, N.R.1
-
19
-
-
33646810505
-
Neuronal-specific roles of the survival motor neuron protein: Evidence from survival motor neuron expression patterns in the developing human central nervous system
-
Giavazzi A, Setola V, Simonati A, Battaglia G (2006) Neuronal-specific roles of the survival motor neuron protein: Evidence from survival motor neuron expression patterns in the developing human central nervous system. J Neuropathol Exp Neurol 65:267-277
-
(2006)
J Neuropathol Exp Neurol
, vol.65
, pp. 267-277
-
-
Giavazzi, A.1
Setola, V.2
Simonati, A.3
Battaglia, G.4
-
20
-
-
0027362750
-
Simplified nerve cell counting in the rat brainstem with the physical disector using a drawing microscope
-
Gunthinas-Lichius O, Mockenhaupt J, Stennert E, Neiss WF (1993) Simplified nerve cell counting in the rat brainstem with the physical disector using a drawing microscope. J Microsci 172:177-180
-
(1993)
J Microsci
, vol.172
, pp. 177-180
-
-
Gunthinas-Lichius, O.1
Mockenhaupt, J.2
Stennert, E.3
Neiss, W.F.4
-
21
-
-
0031442184
-
Synergistic antiapoptotic activity between bcl-2 and SMN implicated in spinal muscular atrophy
-
Iwahashi H, Eguchi Y, Yasuhara N, Hanafusa T, Matsuzawa Y, Tsujimoto Y (1997) Synergistic antiapoptotic activity between bcl-2 and SMN implicated in spinal muscular atrophy. Nature 390:413-417
-
(1997)
Nature
, vol.390
, pp. 413-417
-
-
Iwahashi, H.1
Eguchi, Y.2
Yasuhara, N.3
Hanafusa, T.4
Matsuzawa, Y.5
Tsujimoto, Y.6
-
22
-
-
0034700180
-
Survival motor neuron protein modulates neuron-specific apoptosis
-
Kerr DA, Nery JP, Traystman RJ, Chau BN, Hardwick JM (2000) Survival motor neuron protein modulates neuron-specific apoptosis. Proc Natl Acad Sci USA 97:13312-13317
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 13312-13317
-
-
Kerr, D.A.1
Nery, J.P.2
Traystman, R.J.3
Chau, B.N.4
Hardwick, J.M.5
-
23
-
-
22244452004
-
Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India
-
Kesari A, Idris MM, Chandak GR, Mittal B (2005) Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India. Exp Mol Med 37:147-154
-
(2005)
Exp Mol Med
, vol.37
, pp. 147-154
-
-
Kesari, A.1
Idris, M.M.2
Chandak, G.R.3
Mittal, B.4
-
24
-
-
0021674640
-
Glial bundles in spinal nerve roots. An immunocytochemical study stressing their nonspecificity in various spinal cord and peripheral nerve diseases
-
Kimura T, Budka H (1984) Glial bundles in spinal nerve roots. An immunocytochemical study stressing their nonspecificity in various spinal cord and peripheral nerve diseases. Acta Neuropathol 65:46-52
-
(1984)
Acta Neuropathol
, vol.65
, pp. 46-52
-
-
Kimura, T.1
Budka, H.2
-
26
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frézal J, Cohen D, Weissenbach J, Munnich A, Melki J (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
Le Paslier, D.11
Frézal, J.12
Cohen, D.13
Weissenbach, J.14
Munnich, A.15
Melki, J.16
-
27
-
-
14044254178
-
Characterization of the neuronal marker NeuN as a multiply phosphorylated antigen with discrete subcellular localization
-
Lind D, Franken S, Kappler J, Jankowski J, Schilling J (2005) Characterization of the neuronal marker NeuN as a multiply phosphorylated antigen with discrete subcellular localization. J Neurosci Res 79:295-302
-
(2005)
J Neurosci Res
, vol.79
, pp. 295-302
-
-
Lind, D.1
Franken, S.2
Kappler, J.3
Jankowski, J.4
Schilling, J.5
-
28
-
-
0031800695
-
SMN oligomerization defect correlates with SMA severity
-
Lorson CL, Strasswimmer J, Yao J-M, Baleja JD Hahnen E, Wirth B, Le T, Burghes AH, Androphy EJ (1998) SMN oligomerization defect correlates with SMA severity. Nat Genet 19:63-66
-
(1998)
Nat Genet
, vol.19
, pp. 63-66
-
-
Lorson, C.L.1
Strasswimmer, J.2
Yao, J.-M.3
Baleja, J.D.4
Hahnen, E.5
Wirth, B.6
Le, T.7
Burghes, A.H.8
Androphy, E.J.9
-
29
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
Lorson CL, Hahnen E, Androphy EJ, Wirth B (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci 96:6307-6311
-
(1999)
Proc Natl Acad Sci
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
30
-
-
0028880724
-
Microwave-enhanced in situ end-labeling of fragmented DNA: Parametric studies in relation to post mortem delay and fixation of rat and human brain
-
Lucassen PJ, Chung WCJ, Vermeulen JP, Van Lookeren Campagne M, Van Dierendonck JH, Swaab DF (1995) Microwave-enhanced in situ end-labeling of fragmented DNA: Parametric studies in relation to post mortem delay and fixation of rat and human brain. J Histochem Cytochem 43:1163-1171
-
(1995)
J Histochem Cytochem
, vol.43
, pp. 1163-1171
-
-
Lucassen, P.J.1
Chung, W.C.J.2
Vermeulen, J.P.3
Van Lookeren Campagne, M.4
Van Dierendonck, J.H.5
Swaab, D.F.6
-
31
-
-
0036368287
-
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
-
Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW (2002) Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 4:20-26
-
(2002)
Genet Med
, vol.4
, pp. 20-26
-
-
Mailman, M.D.1
Heinz, J.W.2
Papp, A.C.3
Snyder, P.J.4
Sedra, M.S.5
Wirth, B.6
Burghes, A.H.7
Prior, T.W.8
-
32
-
-
0016765432
-
Sensory system involvement in infantile spinal muscular atrophy
-
Marschall A, Duchen LW (1975) Sensory system involvement in infantile spinal muscular atrophy. J Neurol Sci 26:349-359
-
(1975)
J Neurol Sci
, vol.26
, pp. 349-359
-
-
Marschall, A.1
Duchen, L.W.2
-
33
-
-
0027301170
-
Heterotopic neurons in amyotrophic lateral sclerosis
-
Martin JE, Mather K, Swash M (1993) Heterotopic neurons in amyotrophic lateral sclerosis. Neurology 43:1420-1422
-
(1993)
Neurology
, vol.43
, pp. 1420-1422
-
-
Martin, J.E.1
Mather, K.2
Swash, M.3
-
34
-
-
0042887389
-
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
-
McWhorter ML, Monani UR, Burghes AH, Beattie CE (2003) Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol 162:919-931
-
(2003)
J Cell Biol
, vol.162
, pp. 919-931
-
-
McWhorter, M.L.1
Monani, U.R.2
Burghes, A.H.3
Beattie, C.E.4
-
35
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, McPherson JD (1999) A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 8:1177-1183
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1177-1183
-
-
Monani, U.R.1
Lorson, C.L.2
Parsons, D.W.3
Prior, T.W.4
Androphy, E.J.5
Burghes, A.H.6
McPherson, J.D.7
-
36
-
-
36049049285
-
The changing natural history of spinal muscular atrophy type 1
-
Oskoui M, Levy G, Garland CJ, Gray JM, O'Hagen J, De Vivo DC, Kaufmann P (2007) The changing natural history of spinal muscular atrophy type 1. Neurology 69:1931-1936
-
(2007)
Neurology
, vol.69
, pp. 1931-1936
-
-
Oskoui, M.1
Levy, G.2
Garland, C.J.3
Gray, J.M.4
O'Hagen, J.5
De Vivo, D.C.6
Kaufmann, P.7
-
37
-
-
0034096078
-
Subcellular localization and axonal transport of the survival motor neuron (SMN) in the developing rat spinal cord
-
Pagliardini S, Giavazzi A, Setola V, Lizier C, Di Luca M, DeBiasi S, Battaglia G (2000) Subcellular localization and axonal transport of the survival motor neuron (SMN) in the developing rat spinal cord. Hum Mol Genet 9:47-56
-
(2000)
Hum Mol Genet
, vol.9
, pp. 47-56
-
-
Pagliardini, S.1
Giavazzi, A.2
Setola, V.3
Lizier, C.4
Di Luca, M.5
DeBiasi, S.6
Battaglia, G.7
-
38
-
-
0032471510
-
Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number
-
Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW (1998) Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet 63:1712-1723
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1712-1723
-
-
Parsons, D.W.1
McAndrew, P.E.2
Iannaccone, S.T.3
Mendell, J.R.4
Burghes, A.H.5
Prior, T.W.6
-
39
-
-
0345599021
-
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons
-
Rossoll W, Jablonka S, Andreassi C, Kroning AK, Karle K, Monani UR, Sendtner M (2003) Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol 163:801-812
-
(2003)
J Cell Biol
, vol.163
, pp. 801-812
-
-
Rossoll, W.1
Jablonka, S.2
Andreassi, C.3
Kroning, A.K.4
Karle, K.5
Monani, U.R.6
Sendtner, M.7
-
40
-
-
0028896092
-
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
-
Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, Baird S, Besner-Johnston A, Lefebvre C, Kang X, Salih M, Aubry H, Tamai K, Guan X, Ioannou P, Crawford TO, de Jong PJ, Surh L, Ikeda JE, Korneluk RG, MacKenzie A (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80:167-178
-
(1995)
Cell
, vol.80
, pp. 167-178
-
-
Roy, N.1
Mahadevan, M.S.2
McLean, M.3
Shutler, G.4
Yaraghi, Z.5
Farahani, R.6
Baird, S.7
Besner-Johnston, A.8
Lefebvre, C.9
Kang, X.10
Salih, M.11
Aubry, H.12
Tamai, K.13
Guan, X.14
Ioannou, P.15
Crawford, T.O.16
de Jong, P.J.17
Surh, L.18
Ikeda, J.E.19
Korneluk, R.G.20
MacKenzie, A.21
more..
-
41
-
-
0031938916
-
Characterization of heterotopic neurons in the spinal cord of amyotrophic lateral sclerosis patients
-
Sasaki S, Iwata M (2004) Characterization of heterotopic neurons in the spinal cord of amyotrophic lateral sclerosis patients. Acta Neuropathol 95:367-372
-
(2004)
Acta Neuropathol
, vol.95
, pp. 367-372
-
-
Sasaki, S.1
Iwata, M.2
-
42
-
-
0034035329
-
Regions essential for the interaction between Bcl-2 and SMN, the spinal muscular atrophy disease gene product
-
Sato K, Eguchi Y, Kodama TS, Tsujimoto Y (2000) Regions essential for the interaction between Bcl-2 and SMN, the spinal muscular atrophy disease gene product. Cell Death Differ 7:374-383
-
(2000)
Cell Death Differ
, vol.7
, pp. 374-383
-
-
Sato, K.1
Eguchi, Y.2
Kodama, T.S.3
Tsujimoto, Y.4
-
43
-
-
0031710558
-
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
-
Scharf JM, Endrizzi MG, Wetter A, Huang S Thompson TG, Zerres K, Dietrich WF, Wirth B, Kunkel LM (1998) Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet 20:83-86
-
(1998)
Nat Genet
, vol.20
, pp. 83-86
-
-
Scharf, J.M.1
Endrizzi, M.G.2
Wetter, A.3
Huang, S.4
Thompson, T.G.5
Zerres, K.6
Dietrich, W.F.7
Wirth, B.8
Kunkel, L.M.9
-
44
-
-
0029003447
-
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene
-
Selig S, Bruno S, Scharf JM, Wang CH Vitale E, Gilliam TC, Kunkel LM (1995) Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc Natl Acad Sci 92:3702-3706
-
(1995)
Proc Natl Acad Sci
, vol.92
, pp. 3702-3706
-
-
Selig, S.1
Bruno, S.2
Scharf, J.M.3
Wang, C.H.4
Vitale, E.5
Gilliam, T.C.6
Kunkel, L.M.7
-
45
-
-
0031303583
-
Deletions in the SMN and NAIP genes in patients with spinal muscular atrophy in Croatia
-
Sertic J, Barisic N, Sostarko M, Bosnjak N, Culic V, Cvitanovic L, Ferencak G, Brzovic Z, Stavljenic-Rukavina A (1997) Deletions in the SMN and NAIP genes in patients with spinal muscular atrophy in Croatia. Coll Antropol 21:487-492
-
(1997)
Coll Antropol
, vol.21
, pp. 487-492
-
-
Sertic, J.1
Barisic, N.2
Sostarko, M.3
Bosnjak, N.4
Culic, V.5
Cvitanovic, L.6
Ferencak, G.7
Brzovic, Z.8
Stavljenic-Rukavina, A.9
-
46
-
-
33846930562
-
Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis
-
Setola V, Terao M, Locatelli D, Bassanini S Garattini E, Battaglia G (2007) Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis. Proc Natl Acad Sci USA 104:1959-1964
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 1959-1964
-
-
Setola, V.1
Terao, M.2
Locatelli, D.3
Bassanini, S.4
Garattini, E.5
Battaglia, G.6
-
47
-
-
0020609035
-
A neuropathologic study of Werdnig-Hoffmann disease with special reference to the thalamus and posterior roots
-
Shishikura K, Hara M, Sasaki Y, Misugi K (1983) A neuropathologic study of Werdnig-Hoffmann disease with special reference to the thalamus and posterior roots. Acta Neuropathol 60:99-106
-
(1983)
Acta Neuropathol
, vol.60
, pp. 99-106
-
-
Shishikura, K.1
Hara, M.2
Sasaki, Y.3
Misugi, K.4
-
48
-
-
0034061620
-
Ultrastructural analysis and TUNEL demonstrate motor neuron apoptosis in Werdnig-Hoffmann disease
-
Simic G, Seso-Simic D, Lucassen P, Islam A, Krsnik Z, Cviko A Jelasic D, Barisic N, Winblad B, Kostovic I, Kruslin B (2000) Ultrastructural analysis and TUNEL demonstrate motor neuron apoptosis in Werdnig-Hoffmann disease. J Neuropathol Exp Neurol 59:398-407
-
(2000)
J Neuropathol Exp Neurol
, vol.59
, pp. 398-407
-
-
Simic, G.1
Seso-Simic, D.2
Lucassen, P.3
Islam, A.4
Krsnik, Z.5
Cviko, A.6
Jelasic, D.7
Barisic, N.8
Winblad, B.9
Kostovic, I.10
Kruslin, B.11
-
49
-
-
25444493946
-
SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS
-
Veldink JH, Kalmijn S, Van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH, Van den Berg LH (2005) SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology 65:820-825
-
(2005)
Neurology
, vol.65
, pp. 820-825
-
-
Veldink, J.H.1
Kalmijn, S.2
Van der Hout, A.H.3
Lemmink, H.H.4
Groeneveld, G.J.5
Lummen, C.6
Scheffer, H.7
Wokke, J.H.8
Van den Berg, L.H.9
-
50
-
-
0001269734
-
Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage
-
Werdnig G (1981) Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage. Arch Psychiatr Nervenkr 22:437-481
-
(1981)
Arch Psychiatr Nervenkr
, vol.22
, pp. 437-481
-
-
Werdnig, G.1
-
51
-
-
77957157543
-
Pathology of motor neuron disorders
-
In: Shaw PJ, Strong MJ (eds) Butterworth-Heineman, Elsevier Science, Philadelphia
-
Wharton S, Ince PG (2003) Pathology of motor neuron disorders. In: Shaw PJ, Strong MJ (eds) Motor neuron disorders. Blue books of practical neurology, book 28. Butterworth-Heineman, Elsevier Science, Philadelphia, pp 17-49
-
(2003)
Motor Neuron Disorders. Blue Books of Practical Neurology, Book 28
, pp. 17-49
-
-
Wharton, S.1
Ince, P.G.2
-
52
-
-
0027434345
-
A new method to detect apoptosis in paraffin sections: In situ end labeling of fragmented DNA
-
Wijsman JH, Jonker RR, Keijzer R, Van de Velde CJH, Cornelisse CJ, Van Dierendonck JH (1993) A new method to detect apoptosis in paraffin sections: In situ end labeling of fragmented DNA. J Histochem Cytochem 41:7-12
-
(1993)
J Histochem Cytochem
, vol.41
, pp. 7-12
-
-
Wijsman, J.H.1
Jonker, R.R.2
Keijzer, R.3
Van de Velde, C.J.H.4
Cornelisse, C.J.5
Van Dierendonck, J.H.6
-
53
-
-
0035325266
-
Nuclear gems and Cajal (coiled) bodies in fetal tissues: Nucleolar distribution of the spinal muscular atrophy protein, SMN
-
Young P, Le TT, Dunckley M, Nguyen TM Burghes AH, Morris GE (2001) Nuclear gems and Cajal (coiled) bodies in fetal tissues: Nucleolar distribution of the spinal muscular atrophy protein, SMN. Exp Cell Res 265:252-261
-
(2001)
Exp Cell Res
, vol.265
, pp. 252-261
-
-
Young, P.1
Le, T.T.2
Dunckley, M.3
Nguyen, T.M.4
Burghes, A.H.5
Morris, G.E.6
-
54
-
-
0037169562
-
A direct interaction between survival motor neuron protein and p53 and its relationship to spinal muscular atrophy
-
Young PJ, Day PM, Androphy EJ, Morris GE Morris GE, Lorson CL (2002) A direct interaction between survival motor neuron protein and p53 and its relationship to spinal muscular atrophy. J Biol Chem 277:2852-2859
-
(2002)
J Biol Chem
, vol.277
, pp. 2852-2859
-
-
Young, P.J.1
Day, P.M.2
Androphy, E.J.3
Morris, G.E.4
Morris, G.E.5
Lorson, C.L.6
|