-
1
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
DOI 10.1093/hmg/8.7.1177
-
U.R. Monani, C.L. Lorson, and D.W. Parsons A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 Hum Mol Genet 8 1999 1177 1183 (Pubitemid 29328985)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.7
, 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.M.6
McPherson, J.D.7
-
2
-
-
0018238065
-
Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
-
J. Pearn Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy J Med Genet 15 1978 409 413 (Pubitemid 9093440)
-
(1978)
Journal of Medical Genetics
, vol.15
, Issue.6
, pp. 409-413
-
-
Pearn, J.1
-
3
-
-
0037100098
-
Genetic risk assessment in carrier testing for spinal muscular atrophy
-
DOI 10.1002/ajmg.10425
-
S. Ogino, D.G. Leonard, H. Rennert, W.J. Ewens, and R.B. Wilson Genetic risk assessment in carrier testing for spinal muscular atrophy Am J Med Genet 110 2002 301 307 (Pubitemid 34701042)
-
(2002)
American Journal of Medical Genetics
, vol.110
, Issue.4
, pp. 301-307
-
-
Ogino, S.1
Leonard, D.G.B.2
Rennert, H.3
Ewens, W.J.4
Wilson, R.B.5
-
4
-
-
10044220623
-
New insights on the evolution of the SMN1 and SMN2 region: Simulation and meta-analysis for allele and haplotype frequency calculations
-
DOI 10.1038/sj.ejhg.5201288
-
S. Ogino, R.B. Wilson, and B. Gold New insights on the evolution of the SMN1 and SMN2 region: Simulation and meta-analysis for allele and haplotype frequency calculations Eur J Hum Genet 12 2004 1015 1023 (Pubitemid 39600129)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.12
, pp. 1015-1023
-
-
Ogino, S.1
Wilson, R.B.2
Gold, B.3
-
5
-
-
0026574419
-
Epidemiology of spinal muscular atrophies in a sample of the Italian population
-
M.L. Mostacciuolo, G.A. Danieli, C. Trevisan, E. Muller, and C. Angelini Epidemiology of spinal muscular atrophies in a sample of the Italian population Neuroepidemiology 11 1992 34 38
-
(1992)
Neuroepidemiology
, vol.11
, pp. 34-38
-
-
Mostacciuolo, M.L.1
Danieli, G.A.2
Trevisan, C.3
Muller, E.4
Angelini, C.5
-
6
-
-
0027175977
-
Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thuringen)
-
A. Thieme, B. Mitulla, F. Schulze, and A.W. Spiegler Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thuringen) Hum Genet 91 1993 295 297 (Pubitemid 23159205)
-
(1993)
Human Genetics
, vol.91
, Issue.3
, pp. 295-297
-
-
Thieme, A.1
Mitulla, B.2
Schulze, F.3
Spiegler, A.W.J.4
-
7
-
-
0036368287
-
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
-
DOI 10.1097/00125817-200201000-00004
-
M.D. Mailman, J.W. Heinz, and A.C. Papp Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2 Genet Med 4 2002 20 26 (Pubitemid 44698460)
-
(2002)
Genetics in Medicine
, vol.4
, Issue.1
, 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.M.7
Prior, T.W.8
-
8
-
-
23844516090
-
Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population
-
DOI 10.1212/01.wnl.0000172860.41953.12
-
T. Zaldivar, Y. Montejo, and A.M. Acevedo Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population Neurology 65 2005 636 638 (Pubitemid 41170734)
-
(2005)
Neurology
, vol.65
, Issue.4
, pp. 636-638
-
-
Zaldivar, T.1
Montejo, Y.2
Acevedo, A.M.3
Guerra, R.4
Vargas, J.5
Garofalo, N.6
Alvarez, R.7
Alvarez, M.A.8
Hardiman, O.9
-
9
-
-
69749083429
-
Differences in SMN1 allele frequencies among ethnic groups within North America
-
B.C. Hendrickson, C. Donohoe, and V.R. Akmaev Differences in SMN1 allele frequencies among ethnic groups within North America J Med Genet 46 2009 641 644
-
(2009)
J Med Genet
, vol.46
, pp. 641-644
-
-
Hendrickson, B.C.1
Donohoe, C.2
Akmaev, V.R.3
-
10
-
-
77954137213
-
Newborn and carrier screening for spinal muscular atrophy
-
T.W. Prior, P.J. Snyder, and B.D. Rink Newborn and carrier screening for spinal muscular atrophy Am J Med Genet [A] 152A 2010 1608 1616
-
(2010)
Am J Med Genet [A]
, vol.152 A
, pp. 1608-1616
-
-
Prior, T.W.1
Snyder, P.J.2
Rink, B.D.3
-
11
-
-
0032991013
-
59th ENMC International Workshop: Spinal Muscular Atrophies: Recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands
-
DOI 10.1016/S0960-8966(99)00016-4, PII S0960896699000164
-
K. Zerres, and K.E. Davies 59th ENMC International Workshop: Spinal muscular atrophies: Recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands Neuromuscul Disord 9 1999 272 278 (Pubitemid 29287265)
-
(1999)
Neuromuscular Disorders
, vol.9
, Issue.4
, pp. 272-278
-
-
Zerres, K.1
Davies, K.E.2
-
12
-
-
0028813584
-
Chaos in the classification of SMA: A possible resolution
-
V. Dubowitz Chaos in the classification of SMA: A possible resolution Neuromuscul Disord 5 1995 3 5
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 3-5
-
-
Dubowitz, V.1
-
13
-
-
0034090948
-
Prospective analysis of strength in spinal muscular atrophy
-
S.T. Iannaccone, B.S. Russman, R.H. Browne, C.R. Buncher, M. White, and F.J. Samaha Prospective analysis of strength in spinal muscular atrophy: DCN/Spinal Muscular Atrophy Group J Child Neurol 15 2000 97 101 (Pubitemid 30139873)
-
(2000)
Journal of Child Neurology
, vol.15
, Issue.2
, pp. 97-101
-
-
Iannaccone, S.T.1
Russman, B.S.2
Browne, R.H.3
Buncher, C.R.4
White, M.5
Samaha, F.J.6
-
14
-
-
34548167361
-
Consensus statement for standard of care in spinal muscular atrophy
-
DOI 10.1177/0883073807305788
-
C.H. Wang, R.S. Finkel, and E.S. Bertini Consensus statement for standard of care in spinal muscular atrophy J Child Neurol 22 2007 1027 1049 (Pubitemid 47308318)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.8
, pp. 1027-1049
-
-
Wang, C.H.1
Finkel, R.S.2
Bertini, E.S.3
Schroth, M.4
Simonds, A.5
Wong, B.6
Aloysius, A.7
Morrison, L.8
Main, M.9
Crawford, T.O.10
Trela, A.11
-
15
-
-
34548426950
-
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients
-
DOI 10.1016/j.nmd.2007.05.009, PII S0960896607001861
-
J.M. O'Hagen, A.M. Glanzman, and M.P. McDermott An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients Neuromuscul Disord 17 2007 693 697 (Pubitemid 47362680)
-
(2007)
Neuromuscular Disorders
, vol.17
, Issue.9-10
, pp. 693-697
-
-
O'Hagen, J.M.1
Glanzman, A.M.2
McDermott, M.P.3
Ryan, P.A.4
Flickinger, J.5
Quigley, J.6
Riley, S.7
Sanborn, E.8
Irvine, C.9
Martens, W.B.10
Annis, C.11
Tawil, R.12
Oskoui, M.13
Darras, B.T.14
Finkel, R.S.15
De Vivo, D.C.16
-
16
-
-
0028067907
-
The natural history of type I (severe) spinal muscular atrophy
-
DOI 10.1016/0960-8966(94)90090-6
-
N.H. Thomas, and V. Dubowitz The natural history of type I (severe) spinal muscular atrophy Neuromuscul Disord 4 1994 497 502 (Pubitemid 24331538)
-
(1994)
Neuromuscular Disorders
, vol.4
, Issue.5-6
, pp. 497-502
-
-
Thomas, N.H.1
Dubowitz, V.2
-
17
-
-
0037675216
-
Spinal muscular atrophies
-
H.R.J. Jones, D.C. De Vivo, B.T. Darras, Butterworth Heinemann Philadelphia
-
T.O. Crawford Spinal muscular atrophies H.R.J. Jones, D.C. De Vivo, B.T. Darras, Neuromuscular disorders of infancy, childhood, and adolescence: A clinician's approach 2003 Butterworth Heinemann Philadelphia 145 166
-
(2003)
Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach
, pp. 145-166
-
-
Crawford, T.O.1
-
18
-
-
40449084094
-
Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature
-
DOI 10.1002/ajmg.a.32233
-
L.A. Menke, B.T. Poll-The, and S.A. Clur Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature Am J Med Genet [A] 146A 2008 740 744 (Pubitemid 351354149)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.6
, pp. 740-744
-
-
Menke, L.A.1
Poll-The, B.T.2
Clur, S.-A.3
Bilardo, C.M.4
Van Der Wal, A.C.5
Lemmink, H.H.6
Cobben, J.M.7
-
19
-
-
54049121013
-
Congenital heart disease is a feature of severe infantile spinal muscular atrophy
-
S. Rudnik-Schöneborn, R. Heller, and C. Berg Congenital heart disease is a feature of severe infantile spinal muscular atrophy J Med Genet 45 2008 635 638
-
(2008)
J Med Genet
, vol.45
, pp. 635-638
-
-
Rudnik-Schöneborn, S.1
Heller, R.2
Berg, C.3
-
20
-
-
77957735974
-
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
-
C.R. Heier, R. Satta, C. Lutz, and C.J. DiDonato Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice Hum Mol Genet 19 2010 3906 3918
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3906-3918
-
-
Heier, C.R.1
Satta, R.2
Lutz, C.3
Didonato, C.J.4
-
21
-
-
77957741150
-
Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
-
A.K. Bevan, K.R. Hutchinson, and K.D. Foust Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery Hum Mol Genet 19 2010 3895 3905
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3895-3905
-
-
Bevan, A.K.1
Hutchinson, K.R.2
Foust, K.D.3
-
22
-
-
77957729453
-
Cardiac defects contribute to the pathology of spinal muscular atrophy models
-
M. Shababi, J. Habibi, H.T. Yang, S.M. Vale, W.A. Sewell, and C.L. Lorson Cardiac defects contribute to the pathology of spinal muscular atrophy models Hum Mol Genet 19 2010 4059 4071
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4059-4071
-
-
Shababi, M.1
Habibi, J.2
Yang, H.T.3
Vale, S.M.4
Sewell, W.A.5
Lorson, C.L.6
-
23
-
-
77954132733
-
Digital necroses and vascular thrombosis in severe spinal muscular atrophy
-
S. Rudnik-Schöneborn, S. Vogelgesang, S. Armbrust, L. Graul-Neumann, C. Fusch, and K. Zerres Digital necroses and vascular thrombosis in severe spinal muscular atrophy Muscle Nerve 42 2010 144 147
-
(2010)
Muscle Nerve
, vol.42
, pp. 144-147
-
-
Rudnik-Schöneborn, S.1
Vogelgesang, S.2
Armbrust, S.3
Graul-Neumann, L.4
Fusch, C.5
Zerres, K.6
-
24
-
-
67651083652
-
Vascular perfusion abnormalities in infants with spinal muscular atrophy
-
Q. Araujo Ade, M. Araujo, and K.J. Swoboda Vascular perfusion abnormalities in infants with spinal muscular atrophy J Pediatr 155 2009 292 294
-
(2009)
J Pediatr
, vol.155
, pp. 292-294
-
-
Araujo Ade, Q.1
Araujo, M.2
Swoboda, K.J.3
-
25
-
-
0037465776
-
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy
-
S. Rudnik-Schöneborn, H.H. Goebel, and W. Schlote Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy Neurology 60 2003 983 987 (Pubitemid 36348932)
-
(2003)
Neurology
, vol.60
, Issue.6
, pp. 983-987
-
-
Rudnik-Schoneborn, S.1
Goebel, H.H.2
Schlote, W.3
Molaian, S.4
Omran, H.5
Ketelsen, U.6
Korinthenberg, R.7
Wenzel, D.8
Lauffer, H.9
Kreiss-Nachtsheim, M.10
Wirth, B.11
Zerres, K.12
-
26
-
-
67349115223
-
Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy
-
D.M. Sproule, J. Montes, and M. Montgomery Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy Neuromuscul Disord 19 2009 391 396
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 391-396
-
-
Sproule, D.M.1
Montes, J.2
Montgomery, M.3
-
27
-
-
0036133541
-
Intelligence and cognitive function in children and adolescents with spinal muscular atrophy
-
DOI 10.1016/S0960-8966(01)00274-7, PII S0960896601002747
-
A. von Gontard, K. Zerres, and M. Backes Intelligence and cognitive function in children and adolescents with spinal muscular atrophy Neuromuscul Disord 12 2002 130 136 (Pubitemid 33152730)
-
(2002)
Neuromuscular Disorders
, vol.12
, Issue.2
, pp. 130-136
-
-
Von Gontard, A.1
Zerres, K.2
Backes, M.3
Laufersweiler-Plass, C.4
Wendland, C.5
Melchers, P.6
Lehmkuhl, G.7
Rudnik-Schoneborn, S.8
-
28
-
-
0031587699
-
A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients
-
K. Zerres, S. Rudnik-Schöneborn, E. Forrest, A. Lusakowska, J. Borkowska, and I. Hausmanowa-Petrusewicz A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients J Neurol Sci 146 1997 67 72
-
(1997)
J Neurol Sci
, vol.146
, pp. 67-72
-
-
Zerres, K.1
Rudnik-Schöneborn, S.2
Forrest, E.3
Lusakowska, A.4
Borkowska, J.5
Hausmanowa-Petrusewicz, I.6
-
29
-
-
0032931530
-
Prenatal onset spinal muscular atrophy
-
M.J. MacLeod, J.E. Taylor, P.W. Lunt, C.G. Mathew, and S.A. Robb Prenatal onset spinal muscular atrophy Eur J Paediatr Neurol 3 1999 65 72 (Pubitemid 29193245)
-
(1999)
European Journal of Paediatric Neurology
, vol.3
, Issue.2
, pp. 65-72
-
-
Macleod, M.J.1
Taylor, J.E.2
Lunt, P.W.3
Mathew, C.G.4
Robb, S.A.5
-
30
-
-
0032954263
-
Very severe spinal muscular atrophy (SMA type 0): An expanding clinical phenotype
-
V. Dubowitz Very severe spinal muscular atrophy (SMA type 0): An expanding clinical phenotype Eur J Paediatr Neurol 3 1999 49 51 (Pubitemid 29193242)
-
(1999)
European Journal of Paediatric Neurology
, vol.3
, Issue.2
, pp. 49-51
-
-
Dubowitz, V.1
-
31
-
-
0030870721
-
Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMN(T) gene
-
P.M. Bingham, N. Shen, and H. Rennert Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene Neurology 49 1997 848 851 (Pubitemid 27428034)
-
(1997)
Neurology
, vol.49
, Issue.3
, pp. 848-851
-
-
Bingham, P.M.1
Shen, N.2
Rennert, H.3
Rorke, L.B.4
Black, A.W.5
Marin-Padilla, M.6
Nordgren, R.E.7
-
32
-
-
0030750954
-
Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region
-
DOI 10.1002/ana.410420314
-
R. Korinthenberg, M. Sauer, and U.P. Ketelsen Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region Ann Neurol 42 1997 364 368 (Pubitemid 27391121)
-
(1997)
Annals of Neurology
, vol.42
, Issue.3
, pp. 364-368
-
-
Korinthenberg, R.1
Sauer, M.2
Ketelsen, U.-P.3
Hanemann, C.O.4
Stoll, G.5
Graf, M.6
Baborie, A.7
Volk, B.8
Wirth, B.9
Rudnik-Schoneborn, S.10
Zerres, K.11
-
33
-
-
34548190615
-
Spinal muscular atrophy: Clinical classification and disease heterogeneity
-
DOI 10.1177/0883073807305673
-
B.S. Russman Spinal muscular atrophy: Clinical classification and disease heterogeneity J Child Neurol 22 2007 946 951 (Pubitemid 47308307)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.8
, pp. 946-951
-
-
Russman, B.S.1
-
34
-
-
39149105657
-
Unusual clinical features in infantile Spinal Muscular Atrophies
-
DOI 10.1016/j.braindev.2007.07.008, PII S0387760407001623
-
N. Guillot, J.M. Cuisset, J.C. Cuvellier, J.F. Hurtevent, S. Joriot, and L. Vallee Unusual clinical features in infantile spinal muscular atrophies Brain Dev 30 2008 169 178 (Pubitemid 351258235)
-
(2008)
Brain and Development
, vol.30
, Issue.3
, pp. 169-178
-
-
Guillot, N.1
Cuisset, J.-M.2
Cuvellier, J.-C.3
Hurtevent, J.-F.4
Joriot, S.5
Vallee, L.6
-
35
-
-
80051539024
-
Non-5q spinal muscular atrophies: The alphanumeric soup thickens
-
B.T. Darras Non-5q spinal muscular atrophies: The alphanumeric soup thickens Neurology 77 2011 312 314
-
(2011)
Neurology
, vol.77
, pp. 312-314
-
-
Darras, B.T.1
-
36
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
S. Lefebvre, L. Burglen, and S. Reboullet Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 1995 155 165
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
-
37
-
-
0033983258
-
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
-
C.L. Lorson, and E.J. Androphy An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN Hum Mol Genet 9 2000 259 265
-
(2000)
Hum Mol Genet
, vol.9
, pp. 259-265
-
-
Lorson, C.L.1
Androphy, E.J.2
-
38
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
DOI 10.1038/ng0797-265
-
S. Lefebvre, P. Burlet, and Q. Liu Correlation between severity and SMN protein level in spinal muscular atrophy Nat Genet 16 1997 265 269 (Pubitemid 27280210)
-
(1997)
Nature Genetics
, vol.16
, Issue.3
, pp. 265-269
-
-
Lefebvre, S.1
Burlet, P.2
Liu, Q.3
Bertrandy, S.4
Clermont, O.5
Munnich, A.6
Dreyfuss, G.7
Melki, J.8
-
39
-
-
34548149015
-
Spinal muscular atrophy diagnostics
-
DOI 10.1177/0883073807305668
-
T.W. Prior Spinal muscular atrophy diagnostics J Child Neurol 22 2007 952 956 (Pubitemid 47308308)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.8
, pp. 952-956
-
-
Prior, T.W.1
-
40
-
-
0031059705
-
Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
-
DOI 10.1002/ana.410410214
-
C. DiDonato, S. Ingraham, and J. Mendell Deletions and conversion in spinal muscular atrophy patients: Is there a relationship to severity? Ann Neurol 41 1997 230 237 (Pubitemid 27082104)
-
(1997)
Annals of Neurology
, vol.41
, Issue.2
, pp. 230-237
-
-
DiDonato, C.J.1
Ingraham, S.E.2
Mendell, J.R.3
Prior, T.W.4
Lenard, S.5
Moxley III, R.T.6
Florence, J.7
Burghes, A.H.M.8
-
41
-
-
0029819241
-
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
-
G. van der Steege, P.M. Grootscholten, and J.M. Cobben Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5 Am J Hum Genet 59 1996 834 838 (Pubitemid 26328079)
-
(1996)
American Journal of Human Genetics
, vol.59
, Issue.4
, pp. 834-838
-
-
Van Der Steege, G.1
Grootscholten, P.M.2
Cobben, J.M.3
Zappata, S.4
Scheffer, H.5
Den Dunnen, J.T.6
Van Ommen, G.-J.B.7
Brahe, C.8
Buys, C.H.C.M.9
-
42
-
-
0030818315
-
Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
-
L. Campbell, A. Potter, J. Ignatius, V. Dubowitz, and K. Davies Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype Am J Hum Genet 61 1997 40 50 (Pubitemid 27323322)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.1
, pp. 40-50
-
-
Campbell, L.1
Potter, A.2
Ignatius, J.3
Dubowitz, V.4
Davies, K.5
-
43
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time lightcycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
DOI 10.1086/338627
-
M. Feldkotter, V. Schwarzer, R. Wirth, T.F. Wienker, and B. Wirth Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy Am J Hum Genet 70 2002 358 368 (Pubitemid 34112291)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.2
, pp. 358-368
-
-
Feldkotter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
44
-
-
64149093241
-
A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy
-
E. Arkblad, M. Tulinius, A.K. Kroksmark, M. Henricsson, and N. Darin A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy Acta Paediatr Scand 98 2009 865 872
-
(2009)
Acta Paediatr Scand
, vol.98
, pp. 865-872
-
-
Arkblad, E.1
Tulinius, M.2
Kroksmark, A.K.3
Henricsson, M.4
Darin, N.5
-
45
-
-
25144523447
-
Quantitative analysis of SMN2 based on real-time PCR: Correlation of clinical severity and SMN2 gene dosage
-
M. Saito, Y. Chen, M. Mizuguchi, and T. Igarashi Quantitative analysis of SMN2 based on real-time PCR: Correlation of clinical severity and SMN2 gene dosage [in Japanese] No To Hattatsu 37 2005 407 412 (Pubitemid 41355402)
-
(2005)
No To Hattatsu
, vol.37
, Issue.5
, pp. 407-412
-
-
Saito, M.1
Chen, Y.2
Mizuguchi, M.3
Igarashi, T.4
-
46
-
-
70349991708
-
Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type i in Germany: Implications for clinical trials and genetic counselling
-
S. Rudnik-Schöneborn, C. Berg, and K. Zerres Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: Implications for clinical trials and genetic counselling Clin Genet 76 2009 168 178
-
(2009)
Clin Genet
, vol.76
, pp. 168-178
-
-
Rudnik-Schöneborn, S.1
Berg, C.2
Zerres, K.3
-
47
-
-
4744368810
-
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2
-
DOI 10.1002/ajmg.a.30251
-
T.W. Prior, K.J. Swoboda, H.D. Scott, and A.Q. Hejmanowski Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2 Am J Med Genet [A] 130A 2004 307 310 (Pubitemid 39313235)
-
(2004)
American Journal of Medical Genetics
, vol.130 A
, Issue.3
, pp. 307-310
-
-
Prior, T.W.1
Swoboda, K.J.2
Scott, H.D.3
Hejmanowski, A.Q.4
-
48
-
-
69449103716
-
A positive modifier of spinal muscular atrophy in the SMN2 gene
-
T.W. Prior, A.R. Krainer, and Y. Hua A positive modifier of spinal muscular atrophy in the SMN2 gene Am J Hum Genet 85 2009 408 413
-
(2009)
Am J Hum Genet
, vol.85
, pp. 408-413
-
-
Prior, T.W.1
Krainer, A.R.2
Hua, Y.3
-
49
-
-
42549088649
-
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
-
DOI 10.1126/science.1155085
-
G.E. Oprea, S. Krober, and M.L. McWhorter Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy Science 320 2008 524 527 (Pubitemid 351590664)
-
(2008)
Science
, vol.320
, Issue.5875
, pp. 524-527
-
-
Oprea, G.E.1
Krober, S.2
McWhorter, M.L.3
Rossoll, W.4
Muller, S.5
Krawczak, M.6
Bassell, G.J.7
Beattie, C.E.8
Wirth, B.9
-
50
-
-
77957939276
-
Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females
-
G. Stratigopoulos, P. Lanzano, and L. Deng Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females Arch Neurol 67 2010 1252 1256
-
(2010)
Arch Neurol
, vol.67
, pp. 1252-1256
-
-
Stratigopoulos, G.1
Lanzano, P.2
Deng, L.3
-
51
-
-
33646121056
-
SMN mRNA and protein levels in peripheral blood: Biomarkers for SMA clinical trials
-
DOI 10.1212/01.wnl.0000201929.56928.13, PII 0000611420060411000021
-
C.J. Sumner, S.J. Kolb, and G.G. Harmison SMN mRNA and protein levels in peripheral blood: Biomarkers for SMA clinical trials Neurology 66 2006 1067 1073 (Pubitemid 44044793)
-
(2006)
Neurology
, vol.66
, Issue.7
, pp. 1067-1073
-
-
Sumner, C.J.1
Kolb, S.J.2
Harmison, G.G.3
Jeffries, N.O.4
Schadt, K.5
Finkel, R.S.6
Dreyfuss, G.7
Fischbeck, K.H.8
-
52
-
-
84867329095
-
Spinal muscular atrophy
-
Pagon RA, Bird TC, Dolan CR, Stephens K, eds [updated April 3, 2006]. Seattle, WA: University of Washington (online)
-
Prior TW, Russman BS. Spinal muscular atrophy. In: Pagon RA, Bird TC, Dolan CR, Stephens K, eds. GeneReviews, 1993-2000 [updated April 3, 2006]. Seattle, WA: University of Washington (online).
-
GeneReviews, 1993-2000
-
-
Prior, T.W.1
Russman, B.S.2
-
53
-
-
0030985898
-
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMN(T) and SMN(C) gene copy number
-
P.E. McAndrew, D.W. Parsons, and L.R. Simard Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number Am J Hum Genet 60 1997 1411 1422 (Pubitemid 27258073)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.6
, pp. 1411-1422
-
-
McAndrew, P.E.1
Parsons, D.W.2
Simard, L.R.3
Rochette, C.4
Ray, P.N.5
Mendell, J.R.6
Prior, T.W.7
Burghes, A.H.M.8
-
54
-
-
14944365965
-
Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene
-
DOI 10.1038/sj.ejhg.5201268
-
T. Eggermann, K. Zerres, D. Anhuf, D. Kotzot, C. Fauth, and S. Rudnik-Schöneborn Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene Eur J Hum Genet 13 2005 309 313 (Pubitemid 40360785)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.3
, pp. 309-313
-
-
Eggermann, T.1
Zerres, K.2
Anhuf, D.3
Kotzot, D.4
Fauth, C.5
Rudnik-Schoneborn, S.6
-
55
-
-
34250780551
-
Population screening and cascade testing for carriers of SMA
-
DOI 10.1038/sj.ejhg.5201821, PII 5201821
-
M. Smith, V. Calabro, B. Chong, N. Gardiner, S. Cowie, and D. du Sart Population screening and cascade testing for carriers of SMA Eur J Hum Genet 15 2007 759 766 (Pubitemid 46965409)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.7
, pp. 759-766
-
-
Smith, M.1
Calabro, V.2
Chong, B.3
Gardiner, N.4
Cowie, S.5
Du Sart, D.6
-
56
-
-
18244407748
-
Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function
-
DOI 10.1002/ana.20473
-
K.J. Swoboda, T.W. Prior, and C.B. Scott Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function Ann Neurol 57 2005 704 712 (Pubitemid 40628859)
-
(2005)
Annals of Neurology
, vol.57
, Issue.5
, pp. 704-712
-
-
Swoboda, K.J.1
Prior, T.W.2
Scott, C.B.3
McNaught, T.P.4
Wride, M.C.5
Reyna, S.P.6
Bromberg, M.B.7
-
57
-
-
66149090002
-
Opinion no. 432: Spinal muscular atrophy
-
ACOG Committee
-
ACOG Committee Opinion no. 432: Spinal muscular atrophy Obstet Gynecol 113 2009 1194 1196
-
(2009)
Obstet Gynecol
, vol.113
, pp. 1194-1196
-
-
-
58
-
-
78049262948
-
Carrier testing for spinal muscular atrophy
-
J.M. Gitlin, K. Fischbeck, and T.O. Crawford Carrier testing for spinal muscular atrophy Genet Med 12 2010 621 622
-
(2010)
Genet Med
, vol.12
, pp. 621-622
-
-
Gitlin, J.M.1
Fischbeck, K.2
Crawford, T.O.3
-
59
-
-
70149104463
-
The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation
-
R. Martinez-Hernandez, C. Soler-Botija, and E. Also The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation J Neuropathol Exp Neurol 68 2009 474 481
-
(2009)
J Neuropathol Exp Neurol
, vol.68
, pp. 474-481
-
-
Martinez-Hernandez, R.1
Soler-Botija, C.2
Also, E.3
-
60
-
-
0029954338
-
A novel nuclear structure containing the survival of motor neurons protein
-
Q. Liu, and G. Dreyfuss A novel nuclear structure containing the survival of motor neurons protein EMBO J 15 1996 3555 3565 (Pubitemid 26239768)
-
(1996)
EMBO Journal
, vol.15
, Issue.14
, pp. 3555-3565
-
-
Liu, Q.1
Dreyfuss, G.2
-
61
-
-
33748186105
-
Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons
-
DOI 10.1523/JNEUROSCI.3967-05.2006
-
H. Zhang, L. Xing, W. Rossoll, H. Wichterle, R.H. Singer, and G.J. Bassell Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons J Neurosci 26 2006 8622 8632 (Pubitemid 44316191)
-
(2006)
Journal of Neuroscience
, vol.26
, Issue.33
, pp. 8622-8632
-
-
Zhang, H.1
Xing, L.2
Rossoll, W.3
Wichterle, H.4
Singer, R.H.5
Bassell, G.J.6
-
62
-
-
0035341214
-
SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome
-
DOI 10.1093/emboj/20.9.2304
-
G. Meister, S. Hannus, and O. Plottner SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome EMBO J 20 2001 2304 2314 (Pubitemid 32410599)
-
(2001)
EMBO Journal
, vol.20
, Issue.9
, pp. 2304-2314
-
-
Meister, G.1
Hannus, S.2
Plottner, O.3
Baars, T.4
Hartmann, E.5
Fakan, S.6
Laggerbauer, B.7
Fischer, U.8
-
63
-
-
2242443509
-
Essential role for the SMN complex in the specificity of snRNP assembly
-
DOI 10.1126/science.1074962
-
L. Pellizzoni, J. Yong, and G. Dreyfuss Essential role for the SMN complex in the specificity of snRNP assembly Science 298 2002 1775 1779 (Pubitemid 35404118)
-
(2002)
Science
, vol.298
, Issue.5599
, pp. 1775-1779
-
-
Pellizzoni, L.1
Yong, J.2
Dreyfuss, G.3
-
64
-
-
34548152119
-
Molecular functions of the SMN complex
-
DOI 10.1177/0883073807305666
-
S.J. Kolb, D.J. Battle, and G. Dreyfuss Molecular functions of the SMN complex J Child Neurol 22 2007 990 994 (Pubitemid 47308313)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.8
, pp. 990-994
-
-
Kolb, S.J.1
Battle, D.J.2
Dreyfuss, G.3
-
65
-
-
33846001366
-
The Arginine Methyltransferase CARM1 Regulates the Coupling of Transcription and mRNA Processing
-
DOI 10.1016/j.molcel.2006.11.019, PII S1097276506007908
-
D. Cheng, J. Cote, S. Shaaban, and M.T. Bedford The arginine methyltransferase CARM1 regulates the coupling of transcription and mRNA processing Mol Cell 25 2007 71 83 (Pubitemid 46049059)
-
(2007)
Molecular Cell
, vol.25
, Issue.1
, pp. 71-83
-
-
Cheng, D.1
Cote, J.2
Shaaban, S.3
Bedford, M.T.4
-
66
-
-
0345599021
-
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons
-
DOI 10.1083/jcb.200304128
-
W. Rossoll, S. Jablonka, and C. Andreassi 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 2003 801 812 (Pubitemid 37517887)
-
(2003)
Journal of Cell Biology
, vol.163
, Issue.4
, 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
-
67
-
-
0034639645
-
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
-
U.R. Monani, M. Sendtner, and D.D. Coovert The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in SMN(-/-) mice and results in a mouse with spinal muscular atrophy Hum Mol Genet 9 2000 333 339 (Pubitemid 30098725)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.3
, pp. 333-339
-
-
Monani, U.R.1
Sendtner, M.2
Coovert, D.D.3
Parsons, D.W.4
Andreassi, C.5
Le, T.T.6
Jablonka, S.7
Schrank, B.8
Rossol, W.9
Prior, T.W.10
Morris, G.E.11
Burghes, A.H.M.12
-
68
-
-
0033987669
-
A mouse model for spinal muscular atrophy
-
DOI 10.1038/71709
-
H.M. Hsieh-Li, J.G. Chang, and Y.J. Jong A mouse model for spinal muscular atrophy Nat Genet 24 2000 66 70 (Pubitemid 30041423)
-
(2000)
Nature Genetics
, vol.24
, Issue.1
, pp. 66-70
-
-
Hsieh-Li, H.M.1
Chang, J.-G.2
Jong, Y.-J.3
Wu, M.-H.4
Wang, N.M.5
Tsai, C.H.6
Li, H.7
-
69
-
-
34548164132
-
Fishing for a mechanism: Using zebrafish to understand spinal muscular atrophy
-
DOI 10.1177/0883073807305671
-
C.E. Beattie, T.L. Carrel, and M.L. McWhorter Fishing for a mechanism: Using zebrafish to understand spinal muscular atrophy J Child Neurol 22 2007 995 1003 (Pubitemid 47308314)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.8
, pp. 995-1003
-
-
Beattie, C.E.1
Carrel, T.L.2
McWhorter, M.L.3
-
70
-
-
0042887389
-
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
-
DOI 10.1083/jcb.200303168
-
M.L. McWhorter, U.R. Monani, A.H. Burghes, and C.E. Beattie Knockdown of the survival motor neuron (SMN) protein in zebrafish causes defects in motor axon outgrowth and pathfinding J Cell Biol 162 2003 919 931 (Pubitemid 37087731)
-
(2003)
Journal of Cell Biology
, vol.162
, Issue.5
, pp. 919-931
-
-
McWhorter, M.L.1
Monani, U.R.2
Burghes, A.H.M.3
Beattie, C.E.4
-
71
-
-
67651004474
-
SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis
-
M. Bowerman, C.L. Anderson, A. Beauvais, P.P. Boyl, W. Witke, and R. Kothary SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis Mol Cell Neurosci 42 2009 66 74
-
(2009)
Mol Cell Neurosci
, vol.42
, pp. 66-74
-
-
Bowerman, M.1
Anderson, C.L.2
Beauvais, A.3
Boyl, P.P.4
Witke, W.5
Kothary, R.6
-
72
-
-
77957322783
-
Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for spinal muscular atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing
-
T. Voigt, K. Meyer, O. Baum, and D. Schumperli Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for spinal muscular atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing Neuromuscul Disord 20 2010 744 752
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 744-752
-
-
Voigt, T.1
Meyer, K.2
Baum, O.3
Schumperli, D.4
-
74
-
-
58849103600
-
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice
-
L. Kong, X. Wang, and D.W. Choe Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice J Neurosci 29 2009 842 851
-
(2009)
J Neurosci
, vol.29
, pp. 842-851
-
-
Kong, L.1
Wang, X.2
Choe, D.W.3
-
75
-
-
70350754456
-
Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects
-
K.L. Boon, S. Xiao, and M.L. McWhorter Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects Hum Mol Genet 18 2009 3615 3625
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3615-3625
-
-
Boon, K.L.1
Xiao, S.2
McWhorter, M.L.3
-
76
-
-
70249095607
-
Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes
-
W. Rossoll, and G.J. Bassell Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes Results Probl Cell Differ 48 2009 289 326
-
(2009)
Results Probl Cell Differ
, vol.48
, pp. 289-326
-
-
Rossoll, W.1
Bassell, G.J.2
-
77
-
-
48249145306
-
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
-
S. Kariya, G.H. Park, and Y. Maeno-Hikichi Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy Hum Mol Genet 17 2008 2552 2569
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2552-2569
-
-
Kariya, S.1
Park, G.H.2
Maeno-Hikichi, Y.3
-
78
-
-
4344647889
-
Concerns about the design of clinical trials for spinal muscular atrophy
-
DOI 10.1016/j.nmd.2004.04.004, PII S0960896604000975
-
T.O. Crawford Concerns about the design of clinical trials for spinal muscular atrophy Neuromuscul Disord 14 2004 456 460 (Pubitemid 39141699)
-
(2004)
Neuromuscular Disorders
, vol.14
, Issue.8-9
, pp. 456-460
-
-
Crawford, T.O.1
-
79
-
-
77955449529
-
Assessing spinal muscular atrophy with quantitative ultrasound
-
J.S. Wu, B.T. Darras, and S.B. Rutkove Assessing spinal muscular atrophy with quantitative ultrasound Neurology 75 2010 526 531
-
(2010)
Neurology
, vol.75
, pp. 526-531
-
-
Wu, J.S.1
Darras, B.T.2
Rutkove, S.B.3
-
80
-
-
77949369981
-
Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy
-
J. Montes, M.P. McDermott, and W.B. Martens Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy Neurology 74 2010 833 838
-
(2010)
Neurology
, vol.74
, pp. 833-838
-
-
Montes, J.1
McDermott, M.P.2
Martens, W.B.3
-
81
-
-
77950521387
-
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability
-
A.M. Glanzman, E. Mazzone, and M. Main The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability Neuromuscul Disord 20 2010 155 161
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 155-161
-
-
Glanzman, A.M.1
Mazzone, E.2
Main, M.3
-
82
-
-
33745027696
-
The gross motor function measure™ is a valid and sensitive outcome measure for spinal muscular atrophy
-
DOI 10.1016/j.nmd.2006.03.005, PII S0960896606000915
-
L. Nelson, H. Owens, L.S. Hynan, and S.T. Iannaccone The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy Neuromuscul Disord 16 2006 374 380 (Pubitemid 43870324)
-
(2006)
Neuromuscular Disorders
, vol.16
, Issue.6
, pp. 374-380
-
-
Nelson, L.1
Owens, H.2
Hynan, L.S.3
Iannaccone, S.T.4
-
83
-
-
0043092414
-
The Hammersmith functional motor scale for children with spinal muscular atrophy: A scale to test ability and monitor progress in children with limited ambulation
-
DOI 10.1016/S1090-3798(03)00060-6
-
M. Main, H. Kairon, E. Mercuri, and F. Muntoni The Hammersmith Functional Motor Scale for children with spinal muscular atrophy: A scale to test ability and monitor progress in children with limited ambulation Eur J Paediatr Neurol 7 2003 155 159 (Pubitemid 36939996)
-
(2003)
European Journal of Paediatric Neurology
, vol.7
, Issue.4
, pp. 155-159
-
-
Main, M.1
Kairon, H.2
Mercuri, E.3
Muntoni, F.4
-
84
-
-
33746355222
-
A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy
-
DOI 10.1016/j.nmd.2006.03.015, PII S0960896606001180
-
K.J. Krosschell, J.A. Maczulski, T.O. Crawford, C. Scott, and K.J. Swoboda A modified Hammersmith Functional Motor Scale for use in multi-center research on spinal muscular atrophy Neuromuscul Disord 16 2006 417 426 (Pubitemid 44109971)
-
(2006)
Neuromuscular Disorders
, vol.16
, Issue.7
, pp. 417-426
-
-
Krosschell, K.J.1
Maczulski, J.A.2
Crawford, T.O.3
Scott, C.4
Swoboda, K.J.5
-
85
-
-
70350710787
-
Clinical outcome measures in spinal muscular atrophy
-
J. Montes, A.M. Gordon, S. Pandya, D.C. De Vivo, and P. Kaufmann Clinical outcome measures in spinal muscular atrophy J Child Neurol 24 2009 968 978
-
(2009)
J Child Neurol
, vol.24
, pp. 968-978
-
-
Montes, J.1
Gordon, A.M.2
Pandya, S.3
De Vivo, D.C.4
Kaufmann, P.5
-
86
-
-
58149516736
-
Correlation of survival motor neuron expression in leukocytes and spinal cord in spinal muscular atrophy
-
L.K. Tsai, C.C. Yang, C.H. Ting, Y.N. Su, W.L. Hwu, and H. Li Correlation of survival motor neuron expression in leukocytes and spinal cord in spinal muscular atrophy J Pediatr 154 2009 303 305
-
(2009)
J Pediatr
, vol.154
, pp. 303-305
-
-
Tsai, L.K.1
Yang, C.C.2
Ting, C.H.3
Su, Y.N.4
Hwu, W.L.5
Li, H.6
-
87
-
-
77449106557
-
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
-
F.D. Tiziano, A.M. Pinto, and S. Fiori SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR Eur J Hum Genet 18 2010 52 58
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 52-58
-
-
Tiziano, F.D.1
Pinto, A.M.2
Fiori, S.3
-
88
-
-
70449525150
-
The PedsQL in pediatric patients with spinal muscular atrophy: Feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module
-
S.T. Iannaccone, L.S. Hynan, A. Morton, R. Buchanan, C.A. Limbers, and J.W. Varni The PedsQL in pediatric patients with spinal muscular atrophy: Feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module Neuromuscul Disord 19 2009 805 812
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 805-812
-
-
Iannaccone, S.T.1
Hynan, L.S.2
Morton, A.3
Buchanan, R.4
Limbers, C.A.5
Varni, J.W.6
-
89
-
-
36349023761
-
Clinical trials in spinal muscular atrophy
-
DOI 10.1097/MOP.0b013e3282f1884c, PII 0000848020071200000012
-
B.T. Darras, and P.B. Kang Clinical trials in spinal muscular atrophy Curr Opin Pediatr 19 2007 675 679 (Pubitemid 350145236)
-
(2007)
Current Opinion in Pediatrics
, vol.19
, Issue.6
, pp. 675-679
-
-
Darras, B.T.1
Kang, P.B.2
-
90
-
-
65949122541
-
The emerging role of epigenetic modifications and chromatin remodeling in spinal muscular atrophy
-
S. Lunke, and A. El-Osta The emerging role of epigenetic modifications and chromatin remodeling in spinal muscular atrophy J Neurochem 109 2009 1557 1569
-
(2009)
J Neurochem
, vol.109
, pp. 1557-1569
-
-
Lunke, S.1
El-Osta, A.2
-
91
-
-
0035859952
-
Treatment of spinal muscular atrophy by sodium butyrate
-
DOI 10.1073/pnas.171105098
-
J.G. Chang, H.M. Hsieh-Li, Y.J. Jong, N.M. Wang, C.H. Tsai, and H. Li Treatment of spinal muscular atrophy by sodium butyrate Proc Natl Acad Sci USA 98 2001 9808 9813 (Pubitemid 32769385)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.17
, pp. 9808-9813
-
-
Chang, J.-G.1
Hsieh-Li, H.-M.2
Jong, Y.-J.3
Wang, N.M.4
Tsai, C.-H.5
Li, H.6
-
92
-
-
10744229981
-
Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy
-
DOI 10.1038/sj.ejhg.5201102
-
C. Andreassi, C. Angelozzi, and F.D. Tiziano Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy Eur J Hum Genet 12 2004 59 65 (Pubitemid 38180971)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.1
, pp. 59-65
-
-
Andreassi, C.1
Angelozzi, C.2
Tiziano, F.D.3
Vitali, T.4
De Vincenzi, E.5
Boninsegna, A.6
Villanova, M.7
Bertini, E.8
Pini, A.9
Neri, G.10
Brahe, C.11
-
93
-
-
13544258982
-
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
-
DOI 10.1038/sj.ejhg.5201320
-
C. Brahe, T. Vitali, and F.D. Tiziano Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients Eur J Hum Genet 13 2005 256 259 (Pubitemid 40220572)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.2
, pp. 256-259
-
-
Brahe, C.1
Vitali, T.2
Tiziano, F.D.3
Angelozzi, C.4
Pinto, A.M.5
Borgo, F.6
Moscato, U.7
Bertini, E.8
Mercuri, E.9
Neri, G.10
-
94
-
-
9144269242
-
Pilot trial of phenylbutyrate in spinal muscular atrophy
-
DOI 10.1016/j.nmd.2003.11.006
-
E. Mercuri, E. Bertini, and S. Messina Pilot trial of phenylbutyrate in spinal muscular atrophy Neuromuscul Disord 14 2004 130 135 (Pubitemid 38083321)
-
(2004)
Neuromuscular Disorders
, vol.14
, Issue.2
, pp. 130-135
-
-
Mercuri, E.1
Bertini, E.2
Messina, S.3
Pelliccioni, M.4
D'Amico, A.5
Colitto, F.6
Mirabella, M.7
Tiziano, F.D.8
Vitali, T.9
Angelozzi, C.10
Kinali, M.11
Main, M.12
Brahe, C.13
-
95
-
-
33846114574
-
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
-
DOI 10.1212/01.wnl.0000249142.82285.d6, PII 0000611420070102000015
-
E. Mercuri, E. Bertini, and S. Messina Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy Neurology 68 2007 51 55 (Pubitemid 46058552)
-
(2007)
Neurology
, vol.68
, Issue.1
, pp. 51-55
-
-
Mercuri, E.1
Bertini, E.2
Messina, S.3
Solari, A.4
D'Amico, A.5
Angelozzi, C.6
Battini, R.7
Berardinelli, A.8
Boffi, P.9
Bruno, C.10
Cini, C.11
Colitto, F.12
Kinali, M.13
Minetti, C.14
Mongini, T.15
Morandi, L.16
Neri, G.17
Orcesi, S.18
Pane, M.19
Pelliccioni, M.20
Pini, A.21
Tiziano, F.D.22
Villanova, M.23
Vita, G.24
Brahe, C.25
more..
-
96
-
-
0242290062
-
Valproic Acid Increases SMN Levels in Spinal Muscular Atrophy Patient Cells
-
DOI 10.1002/ana.10743
-
C.J. Sumner, T.N. Huynh, and J.A. Markowitz Valproic acid increases SMN levels in spinal muscular atrophy patient cells Ann Neurol 54 2003 647 654 (Pubitemid 37346071)
-
(2003)
Annals of Neurology
, vol.54
, Issue.5
, pp. 647-654
-
-
Sumner, C.J.1
Huynh, T.N.2
Markowitz, J.A.3
Perhac, J.S.4
Hill, B.5
Coovert, D.D.6
Schussler, K.7
Chen, X.8
Jarecki, J.9
Burghes, A.H.M.10
Taylor, J.P.11
Fischbeck, K.H.12
-
97
-
-
0141506887
-
Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy
-
DOI 10.1093/hmg/ddg256
-
L. Brichta, Y. Hofmann, and E. Hahnen Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy Hum Mol Genet 12 2003 2481 2489 (Pubitemid 37220412)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.19
, pp. 2481-2489
-
-
Brichta, L.1
Hofmann, Y.2
Hahnen, E.3
Siebzehnrubi, F.A.4
Raschke, H.5
Blumcke, I.6
Eyupoglu, I.Y.7
Wirth, B.8
-
98
-
-
65849222556
-
Phase II open label study of valproic acid in spinal muscular atrophy
-
K.J. Swoboda, C.B. Scott, and S.P. Reyna Phase II open label study of valproic acid in spinal muscular atrophy PLoS One 4 2009 e5268
-
(2009)
PLoS One
, vol.4
, pp. 5268
-
-
Swoboda, K.J.1
Scott, C.B.2
Reyna, S.P.3
-
99
-
-
77957929588
-
SMA CARNI-VAL Trial part I: Double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy
-
K.J. Swoboda, C.B. Scott, and T.O. Crawford SMA CARNI-VAL Trial part I: Double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy PLoS One 5 2010 e12140
-
(2010)
PLoS One
, vol.5
, pp. 12140
-
-
Swoboda, K.J.1
Scott, C.B.2
Crawford, T.O.3
-
100
-
-
70350749543
-
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate
-
L. Garbes, M. Riessland, and I. Holker LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate Hum Mol Genet 18 2009 3645 3658
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3645-3658
-
-
Garbes, L.1
Riessland, M.2
Holker, I.3
-
101
-
-
23244458683
-
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
-
DOI 10.1002/ana.20548
-
S.M. Grzeschik, M. Ganta, T.W. Prior, W.D. Heavlin, and C.H. Wang Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells Ann Neurol 58 2005 194 202 (Pubitemid 41098877)
-
(2005)
Annals of Neurology
, vol.58
, Issue.2
, pp. 194-202
-
-
Grzeschik, S.M.1
Ganta, M.2
Prior, T.W.3
Heavlin, W.D.4
Wang, C.H.5
-
102
-
-
40849083780
-
The effect of hydroxyurea in spinal muscular atrophy cells and patients
-
W.C. Liang, C.Y. Yuo, and J.G. Chang The effect of hydroxyurea in spinal muscular atrophy cells and patients J Neurol Sci 268 2008 87 94
-
(2008)
J Neurol Sci
, vol.268
, pp. 87-94
-
-
Liang, W.C.1
Yuo, C.Y.2
Chang, J.G.3
-
103
-
-
79951549405
-
Hydroxyurea enhances SMN2 gene expression through nitric oxide release
-
C. Xu, X. Chen, S.M. Grzeschik, M. Ganta, and C.H. Wang Hydroxyurea enhances SMN2 gene expression through nitric oxide release Neurogenetics 12 2011 19 24
-
(2011)
Neurogenetics
, vol.12
, pp. 19-24
-
-
Xu, C.1
Chen, X.2
Grzeschik, S.M.3
Ganta, M.4
Wang, C.H.5
-
104
-
-
78650809695
-
Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy
-
T.H. Chen, J.G. Chang, and Y.H. Yang Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy Neurology 75 2010 2190 2197
-
(2010)
Neurology
, vol.75
, pp. 2190-2197
-
-
Chen, T.H.1
Chang, J.G.2
Yang, Y.H.3
-
105
-
-
0037183535
-
Pilot trial of albuterol in spinal muscular atrophy
-
M. Kinali, E. Mercuri, and M. Main Pilot trial of albuterol in spinal muscular atrophy Neurology 59 2002 609 610 (Pubitemid 34919999)
-
(2002)
Neurology
, vol.59
, Issue.4
, pp. 609-610
-
-
Kinali, M.1
Mercuri, E.2
Main, M.3
De Biasia, F.4
Karatza, A.5
Higgins, R.6
Banks, L.M.7
Manzur, A.Y.8
Muntoni, F.9
-
106
-
-
46749083736
-
Daily salbutamol in young patients with SMA type II
-
M. Pane, S. Staccioli, and S. Messina Daily salbutamol in young patients with SMA type II Neuromuscul Disord 18 2008 536 540
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 536-540
-
-
Pane, M.1
Staccioli, S.2
Messina, S.3
-
107
-
-
78649636116
-
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: Relevance for clinical trial design
-
F.D. Tiziano, R. Lomastro, and A.M. Pinto Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: Relevance for clinical trial design J Med Genet 47 2010 856 858
-
(2010)
J Med Genet
, vol.47
, pp. 856-858
-
-
Tiziano, F.D.1
Lomastro, R.2
Pinto, A.M.3
-
108
-
-
38349090169
-
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
-
DOI 10.1136/jmg.2007.051177
-
C. Angelozzi, F. Borgo, F.D. Tiziano, A. Martella, G. Neri, and C. Brahe Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells J Med Genet 45 2008 29 31 (Pubitemid 351158155)
-
(2008)
Journal of Medical Genetics
, vol.45
, Issue.1
, pp. 29-31
-
-
Angelozzi, C.1
Borgo, F.2
Tiziano, F.D.3
Martella, A.4
Neri, G.5
Brahe, C.6
-
109
-
-
18144431041
-
A non-sequence-apecific requirement for SMN protein activity: The role of aminoglycosides in inducing elevated SMN protein levels
-
DOI 10.1093/hmg/ddi131
-
E.C. Wolstencroft, V. Mattis, A.A. Bajer, P.J. Young, and C.L. Lorson A non-sequence-specific requirement for SMN protein activity: The role of aminoglycosides in inducing elevated SMN protein levels Hum Mol Genet 14 2005 1199 1210 (Pubitemid 40613908)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.9
, pp. 1199-1210
-
-
Wolstencroft, E.C.1
Mattis, V.2
Bajer, A.A.3
Young, P.J.4
Lorson, C.L.5
-
110
-
-
63149153320
-
Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo
-
C.R. Heier, and C.J. DiDonato Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo Hum Mol Genet 18 2009 1310 1322
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1310-1322
-
-
Heier, C.R.1
Didonato, C.J.2
-
111
-
-
0141592403
-
Riluzole attenuates spinal muscular atrophy disease progression in a mouse model
-
DOI 10.1002/mus.10455
-
H. Haddad, C. Cifuentes-Diaz, A. Miroglio, N. Roblot, V. Joshi, and J. Melki Riluzole attenuates spinal muscular atrophy disease progression in a mouse model Muscle Nerve 28 2003 432 437 (Pubitemid 37193770)
-
(2003)
Muscle and Nerve
, vol.28
, Issue.4
, pp. 432-437
-
-
Haddad, H.1
Cifuentes-Diaz, C.2
Miroglio, A.3
Roblot, N.4
Joshi, V.5
Melki, J.6
-
112
-
-
0344896685
-
A Phase 1 Trial of Riluzole in Spinal Muscular Atrophy
-
DOI 10.1001/archneur.60.11.1601
-
B.S. Russman, S.T. Iannaccone, and F.J. Samaha A phase 1 trial of riluzole in spinal muscular atrophy Arch Neurol 60 2003 1601 1603 (Pubitemid 37443126)
-
(2003)
Archives of Neurology
, vol.60
, Issue.11
, pp. 1601-1603
-
-
Russman, B.S.1
Iannaccone, S.T.2
Samaha, F.J.3
-
113
-
-
0035886619
-
A placebo-controlled trial of gabapentin in spinal muscular atrophy
-
DOI 10.1016/S0022-510X(01)00632-3, PII S0022510X01006323
-
R.G. Miller, D.H. Moore, and V. Dronsky A placebo-controlled trial of gabapentin in spinal muscular atrophy J Neurol Sci 191 2001 127 131 (Pubitemid 33035905)
-
(2001)
Journal of the Neurological Sciences
, vol.191
, Issue.1-2
, pp. 127-131
-
-
Miller, R.G.1
Moore, D.H.2
Dronsky, V.3
Bradley, W.4
Barohn, R.5
Bryan, W.6
Prior, T.W.7
Gelinas, D.F.8
Iannaccone, S.9
Kissel, J.10
Leshner, R.11
Mendell, J.12
Mendoza, M.13
Russman, B.14
Samaha, F.15
Smith, S.16
-
114
-
-
0042383467
-
Role of gabapentin in spinal muscular atrophy: Results of a multicenter, randomized Italian study
-
L. Merlini, A. Solari, and G. Vita Role of gabapentin in spinal muscular atrophy: Results of a multicenter, randomized Italian study J Child Neurol 18 2003 537 541 (Pubitemid 37098628)
-
(2003)
Journal of Child Neurology
, vol.18
, Issue.8
, pp. 537-541
-
-
Merlini, L.1
Solari, A.2
Vita, G.3
Bertini, E.4
Minetti, C.5
Mongini, T.6
Mazzoni, E.7
Angelini, C.8
Morandi, L.9
-
115
-
-
77956130809
-
In vivo NMDA receptor activation accelerates motor unit maturation, protects spinal motor neurons, and enhances SMN2 gene expression in severe spinal muscular atrophy mice
-
O. Biondi, J. Branchu, and G. Sanchez In vivo NMDA receptor activation accelerates motor unit maturation, protects spinal motor neurons, and enhances SMN2 gene expression in severe spinal muscular atrophy mice J Neurosci 30 2010 11288 11299
-
(2010)
J Neurosci
, vol.30
, pp. 11288-11299
-
-
Biondi, O.1
Branchu, J.2
Sanchez, G.3
-
116
-
-
77955874022
-
Antisense oligonucleotides and spinal muscular atrophy: Skipping along
-
A.H. Burghes, and V.L. McGovern Antisense oligonucleotides and spinal muscular atrophy: Skipping along Genes Dev 24 2010 1574 1579
-
(2010)
Genes Dev
, vol.24
, pp. 1574-1579
-
-
Burghes, A.H.1
McGovern, V.L.2
-
117
-
-
41549168514
-
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice
-
Y. Hua, T.A. Vickers, H.L. Okunola, C.F. Bennett, and A.R. Krainer Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice Am J Hum Genet 82 2008 834 848
-
(2008)
Am J Hum Genet
, vol.82
, pp. 834-848
-
-
Hua, Y.1
Vickers, T.A.2
Okunola, H.L.3
Bennett, C.F.4
Krainer, A.R.5
-
118
-
-
67650480122
-
A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy
-
N.N. Singh, M. Shishimorova, L.C. Cao, L. Gangwani, and R.N. Singh A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy RNA Biol 6 2009 341 350
-
(2009)
RNA Biol
, vol.6
, pp. 341-350
-
-
Singh, N.N.1
Shishimorova, M.2
Cao, L.C.3
Gangwani, L.4
Singh, R.N.5
-
119
-
-
77955894067
-
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
-
Y. Hua, K. Sahashi, and G. Hung Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model Genes Dev 24 2010 1634 1644
-
(2010)
Genes Dev
, vol.24
, pp. 1634-1644
-
-
Hua, Y.1
Sahashi, K.2
Hung, G.3
-
120
-
-
67449135902
-
Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy
-
J.H. Williams, R.C. Schray, C.A. Patterson, S.O. Ayitey, M.K. Tallent, and G.J. Lutz Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy J Neurosci 29 2009 7633 7638
-
(2009)
J Neurosci
, vol.29
, pp. 7633-7638
-
-
Williams, J.H.1
Schray, R.C.2
Patterson, C.A.3
Ayitey, S.O.4
Tallent, M.K.5
Lutz, G.J.6
-
121
-
-
64549161948
-
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy
-
T.D. Baughan, A. Dickson, E.Y. Osman, and C.L. Lorson Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy Hum Mol Genet 18 2009 1600 1611
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1600-1611
-
-
Baughan, T.D.1
Dickson, A.2
Osman, E.Y.3
Lorson, C.L.4
-
122
-
-
77949519556
-
Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs
-
T. Geib, and K.J. Hertel Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs PLoS One 4 2009 e8204
-
(2009)
PLoS One
, vol.4
, pp. 8204
-
-
Geib, T.1
Hertel, K.J.2
-
123
-
-
77249088647
-
Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice
-
S. Corti, M. Nizzardo, and M. Nardini Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice Brain 133 2010 465 481
-
(2010)
Brain
, vol.133
, pp. 465-481
-
-
Corti, S.1
Nizzardo, M.2
Nardini, M.3
-
124
-
-
58249110796
-
Induced pluripotent stem cells from a spinal muscular atrophy patient
-
A.D. Ebert, J. Yu, and F.F. Rose Jr. Induced pluripotent stem cells from a spinal muscular atrophy patient Nature 457 2009 277 280
-
(2009)
Nature
, vol.457
, pp. 277-280
-
-
Ebert, A.D.1
Yu, J.2
Rose, Jr.F.F.3
-
125
-
-
77749249680
-
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
-
K.D. Foust, X. Wang, and V.L. McGovern Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN Nat Biotechnol 28 2010 271 274
-
(2010)
Nat Biotechnol
, vol.28
, pp. 271-274
-
-
Foust, K.D.1
Wang, X.2
McGovern, V.L.3
-
126
-
-
77951201412
-
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
-
M.A. Passini, J. Bu, and E.M. Roskelley CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy J Clin Invest 120 2010 1253 1264
-
(2010)
J Clin Invest
, vol.120
, pp. 1253-1264
-
-
Passini, M.A.1
Bu, J.2
Roskelley, E.M.3
-
127
-
-
34548178795
-
Modern management of spinal muscular atrophy
-
DOI 10.1177/0883073807305670
-
S.T. Iannaccone Modern management of spinal muscular atrophy J Child Neurol 22 2007 974 978 (Pubitemid 47308311)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.8
, pp. 974-978
-
-
Iannaccone, S.T.1
-
128
-
-
65649150062
-
Special considerations in the respiratory management of spinal muscular atrophy
-
M.K. Schroth Special considerations in the respiratory management of spinal muscular atrophy Pediatrics 123 Suppl. 4 2009 S245 S249
-
(2009)
Pediatrics
, vol.123
, Issue.SUPPL. 4
-
-
Schroth, M.K.1
-
129
-
-
9744257754
-
Sleep disordered breathing in spinal muscular atrophy
-
DOI 10.1016/j.nmd.2004.09.004, PII S0960896604002433
-
U. Mellies, C. Dohna-Schwake, F. Stehling, and T. Voit Sleep disordered breathing in spinal muscular atrophy Neuromuscul Disord 14 2004 797 803 (Pubitemid 39582719)
-
(2004)
Neuromuscular Disorders
, vol.14
, Issue.12
, pp. 797-803
-
-
Mellies, U.1
Dohna-Schwake, C.2
Stehling, F.3
Voit, T.4
-
130
-
-
75149135123
-
The effect of long term ventilatory support on hemodynamics in children with spinal muscle atrophy (SMA) type II
-
A. Markstrom, G. Cohen, and M. Katz-Salamon The effect of long term ventilatory support on hemodynamics in children with spinal muscle atrophy (SMA) type II Sleep Med 11 2010 201 204
-
(2010)
Sleep Med
, vol.11
, pp. 201-204
-
-
Markstrom, A.1
Cohen, G.2
Katz-Salamon, M.3
-
131
-
-
55649121614
-
Early laparoscopic fundoplication and gastrostomy in infants with spinal muscular atrophy type i
-
E.T. Durkin, M.K. Schroth, M. Helin, and A.F. Shaaban Early laparoscopic fundoplication and gastrostomy in infants with spinal muscular atrophy type I J Pediatr Surg 43 2008 2031 2037
-
(2008)
J Pediatr Surg
, vol.43
, pp. 2031-2037
-
-
Durkin, E.T.1
Schroth, M.K.2
Helin, M.3
Shaaban, A.F.4
-
132
-
-
34447124947
-
Laparoscopic Nissen fundoplication during gastrostomy tube placement and noninvasive ventilation may improve survival in type I and severe type II spinal muscular atrophy
-
DOI 10.1177/0883073807304009
-
N. Yuan, C.H. Wang, A. Trela, and C.T. Albanese Laparoscopic Nissen fundoplication during gastrostomy tube placement and noninvasive ventilation may improve survival in type I and severe type II spinal muscular atrophy J Child Neurol 22 2007 727 731 (Pubitemid 47034378)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.6
, pp. 727-731
-
-
Yuan, N.1
Wang, C.H.2
Trela, A.3
Albanese, C.T.4
-
133
-
-
77954027340
-
Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy
-
D.M. Sproule, J. Montes, and S. Dunaway Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy Neuromuscul Disord 20 2010 448 452
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 448-452
-
-
Sproule, D.M.1
Montes, J.2
Dunaway, S.3
-
134
-
-
77953291898
-
Fractures in proximal spinal muscular atrophy
-
A. Fujak, C. Kopschina, R. Forst, F. Gras, L.A. Mueller, and J. Forst Fractures in proximal spinal muscular atrophy Arch Orthop Trauma Surg 130 2010 775 780
-
(2010)
Arch Orthop Trauma Surg
, vol.130
, pp. 775-780
-
-
Fujak, A.1
Kopschina, C.2
Forst, R.3
Gras, F.4
Mueller, L.A.5
Forst, J.6
|