-
1
-
-
45249106162
-
Spinal muscular atrophy
-
18572081
-
Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371:2120-33.
-
(2008)
Lancet
, vol.371
, pp. 2120-2133
-
-
Lunn, M.R.1
Wang, C.H.2
-
2
-
-
84871718500
-
Spinal muscular atrophy: going beyond the motor neuron
-
1:CAS:528:DC%2BC3sXhsFOisA%3D%3D 23228902
-
Hamilton G, Gillingwater TH. Spinal muscular atrophy: going beyond the motor neuron. Trends Mol Med. 2013;19:40-50.
-
(2013)
Trends Mol Med
, vol.19
, pp. 40-50
-
-
Hamilton, G.1
Gillingwater, T.H.2
-
3
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
1:CAS:528:DyaK2MXjtFegu74%3D 7813012
-
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155-65.
-
(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
-
4
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
1:CAS:528:DyaK2sXltVSntbs%3D 9259265
-
Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet. 1997;6:1205-14.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1205-1214
-
-
Coovert, D.D.1
Le, T.T.2
McAndrew, P.E.3
Strasswimmer, J.4
Crawford, T.O.5
Mendell, J.R.6
Coulson, S.E.7
Androphy, E.J.8
Prior, T.W.9
Burghes, A.H.10
-
5
-
-
0036368287
-
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
-
1:CAS:528:DC%2BD38XhtlGktL0%3D 11839954
-
Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med. 2002;4:20-6.
-
(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
-
6
-
-
67651083390
-
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
-
1:CAS:528:DC%2BD1MXotlSnsrc%3D 19584893 2853768
-
Burghes AH, Beattie CE. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci. 2009;10:597-609.
-
(2009)
Nat Rev Neurosci
, vol.10
, pp. 597-609
-
-
Burghes, A.H.1
Beattie, C.E.2
-
7
-
-
77953893282
-
Spinal muscular atrophy: mechanisms and therapeutic strategies
-
1:CAS:528:DC%2BC3cXmsVSrsbg%3D 20392710 2875050
-
Lorson CL, Rindt H, Shababi M. Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum Mol Genet. 2010;19:R111-8.
-
(2010)
Hum Mol Genet
, vol.19
, pp. R111-R118
-
-
Lorson, C.L.1
Rindt, H.2
Shababi, M.3
-
8
-
-
7244219856
-
Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload
-
1:CAS:528:DC%2BD2cXhtVCgsb3I 15509541 1618680
-
Vitte JM, Davoult B, Roblot N, Mayer M, Joshi V, Courageot S, Tronche F, Vadrot J, Moreau MH, Kemeny F, Melki J. Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload. Am J Pathol. 2004;165:1731-41.
-
(2004)
Am J Pathol
, vol.165
, pp. 1731-1741
-
-
Vitte, J.M.1
Davoult, B.2
Roblot, N.3
Mayer, M.4
Joshi, V.5
Courageot, S.6
Tronche, F.7
Vadrot, J.8
Moreau, M.H.9
Kemeny, F.10
Melki, J.11
-
9
-
-
78650281848
-
The many faces of SMN: deciphering the function critical to spinal muscular atrophy pathogenesis
-
Boyer JG, Bowerman M, Kothary R. The many faces of SMN: deciphering the function critical to spinal muscular atrophy pathogenesis. Future Neurol. 2010;5:873-90.
-
(2010)
Future Neurol
, vol.5
, pp. 873-890
-
-
Boyer, J.G.1
Bowerman, M.2
Kothary, R.3
-
10
-
-
80053902729
-
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
-
1:CAS:528:DC%2BC3MXht1ylt7%2FL 21979052 3191865
-
Hua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett CF, Krainer AR. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature. 2011;478:123-6.
-
(2011)
Nature
, vol.478
, pp. 123-126
-
-
Hua, Y.1
Sahashi, K.2
Rigo, F.3
Hung, G.4
Horev, G.5
Bennett, C.F.6
Krainer, A.R.7
-
11
-
-
84904464793
-
SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease
-
1:CAS:528:DC%2BC2cXnsFCntrk%3D 24769255
-
Li DK, Tisdale S, Lotti F, Pellizzoni L. SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease. Semin Cell Dev Biol. 2014;32:22-9.
-
(2014)
Semin Cell Dev Biol
, vol.32
, pp. 22-29
-
-
Li, D.K.1
Tisdale, S.2
Lotti, F.3
Pellizzoni, L.4
-
12
-
-
84895931509
-
SMN is required for the maintenance of embryonic stem cells and neuronal differentiation in mice
-
Chang W-F, Xu J, Chang C-C, Yang S-H, Li H-Y, Hsieh-Li HM, Tsai M-H, Wu S-C, Cheng WTK, Liu J-L, Sung L-Y. SMN is required for the maintenance of embryonic stem cells and neuronal differentiation in mice. Brain Struct Funct. 2015;220(3):1539-53.
-
(2015)
Brain Struct Funct
, vol.220
, Issue.3
, pp. 1539-1553
-
-
Chang, W.-F.1
Xu, J.2
Chang, C.-C.3
Yang, S.-H.4
Li, H.-Y.5
Hsieh-Li, H.M.6
Tsai, M.-H.7
Wu, S.-C.8
Cheng, W.T.K.9
Liu, J.-L.10
Sung, L.-Y.11
-
13
-
-
84906993523
-
Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells
-
25191843 4156416
-
Maeda M, Harris AW, Kingham BF, Lumpkin CJ, Opdenaker LM, McCahan SM, Wang W, Butchbach MER. Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells. PLoS One. 2014;9:e106818.
-
(2014)
PLoS One
, vol.9
, pp. e106818
-
-
Maeda, M.1
Harris, A.W.2
Kingham, B.F.3
Lumpkin, C.J.4
Opdenaker, L.M.5
McCahan, S.M.6
Wang, W.7
Butchbach, M.E.R.8
-
14
-
-
63849179157
-
Nomenclature for congenital and paediatric cardiac disease: historical perspectives and The International Pediatric and Congenital Cardiac Code
-
19063777
-
Franklin RCG, Jacobs JP, Krogmann ON, Béland MJ, Aiello VD, Colan SD, Elliott MJ, William Gaynor J, Kurosawa H, Maruszewski B, Stellin G, Tchervenkov CI, Walters Iii HL, Weinberg P, Anderson RH. Nomenclature for congenital and paediatric cardiac disease: historical perspectives and The International Pediatric and Congenital Cardiac Code. Cardiol Young. 2008;18 Suppl 2:70-80.
-
(2008)
Cardiol Young
, vol.18
, pp. 70-80
-
-
Franklin, R.C.G.1
Jacobs, J.P.2
Krogmann, O.N.3
Béland, M.J.4
Aiello, V.D.5
Colan, S.D.6
Elliott, M.J.7
William Gaynor, J.8
Kurosawa, H.9
Maruszewski, B.10
Stellin, G.11
Tchervenkov, C.I.12
Walters Iii, H.L.13
Weinberg, P.14
Anderson, R.H.15
-
15
-
-
85018513365
-
-
The International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD)
-
The International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD). European Paediatric Cardiac Code - The Short List with ICD-9 & ICD-10 cross-mapping. Retrieved from: http://ipccc.net/ipccc-download-form/.
-
European Paediatric Cardiac Code - The Short List with ICD-9 & ICD-10 cross-mapping
-
-
-
17
-
-
0014983966
-
Primary and neurogenic skeletal muscle diseases or paralysis with marked disturbances of cardiac rhythm
-
1:STN:280:DyaE3M7ht1Slug%3D%3D 5101282
-
Sterz H, Harrer G, Marchet H, Kaserer HP, Schlamberger H, Samec H, Stark U. [Primary and neurogenic skeletal muscle diseases or paralysis with marked disturbances of cardiac rhythm]. Z Kreislaufforsch. 1971;60:1-13.
-
(1971)
Z Kreislaufforsch
, vol.60
, pp. 1-13
-
-
Sterz, H.1
Harrer, G.2
Marchet, H.3
Kaserer, H.P.4
Schlamberger, H.5
Samec, H.6
Stark, U.7
-
18
-
-
5244372965
-
Kugelberg-Welander disease with cardiopathy of unknown etiology. Clinical report of a case
-
Matsumoto K, Kakiuchi F, Kaklhana M. Kugelberg-Welander disease with cardiopathy of unknown etiology. Clinical report of a case. Respir Circ. 1971;19:863-70.
-
(1971)
Respir Circ
, vol.19
, pp. 863-870
-
-
Matsumoto, K.1
Kakiuchi, F.2
Kaklhana, M.3
-
19
-
-
0015874609
-
[2 cases of Kugelberg-Welander disease with cardiopathy]
-
1:STN:280:DyaE3s3lt1aguw%3D%3D 4738322
-
Sugimura F, Iijima M, Ozawa Y, Oki Y, Watanabe S. [2 cases of Kugelberg-Welander disease with cardiopathy]. Rinsho Shinkeigaku. 1973;13:79-86.
-
(1973)
Rinsho Shinkeigaku
, vol.13
, pp. 79-86
-
-
Sugimura, F.1
Iijima, M.2
Ozawa, Y.3
Oki, Y.4
Watanabe, S.5
-
20
-
-
0017236045
-
The Wohlfart-Kugelberg-Welander disease. A clinical case with nonobstructive myocardiopathy
-
1:STN:280:DyaE2s%2FotFWjtA%3D%3D 188171
-
Lagarde P, Bakouche P, Lamotte-Barrillon S. The Wohlfart-Kugelberg-Welander disease. A clinical case with nonobstructive myocardiopathy. Sem Hop. 1976;52:1017-21.
-
(1976)
Sem Hop
, vol.52
, pp. 1017-1021
-
-
Lagarde, P.1
Bakouche, P.2
Lamotte-Barrillon, S.3
-
21
-
-
49749156090
-
Early infantile progressive muscular atrophy(Werdnig-Hoffman), a clinical and pathologic study of two cases
-
Nixon CE, Oliver J. Early infantile progressive muscular atrophy(Werdnig-Hoffman), a clinical and pathologic study of two cases. J Lab Clin Med. 1927;12:837-44.
-
(1927)
J Lab Clin Med.
, vol.12
, pp. 837-844
-
-
Nixon, C.E.1
Oliver, J.2
-
22
-
-
75949147129
-
CARDIAC MANIFESTATIONS DURING DISEASES OF THE NERVOUS AND MUSCULAR SYSTEMS
-
1:STN:280:DyaF2c7gt1Gksg%3D%3D
-
Sterne J, Lavieuville M. [CARDIAC MANIFESTATIONS DURING DISEASES OF THE NERVOUS AND MUSCULAR SYSTEMS]. Gaz médicale Fr. 1964;71:1925-32.
-
(1964)
Gaz médicale Fr
, vol.71
, pp. 1925-1932
-
-
Sterne, J.1
Lavieuville, M.2
-
23
-
-
77049344218
-
-
[Werdnig-Hoffmann’s infantile progressive muscular atrophy; clinical aspects, pathology, heredity, and relation to Oppenheim’s amyotonia congenita and other morbid conditions with laxity of the joints or muscles in children].
-
Brandt S. [Werdnig-Hoffmann’s infantile progressive muscular atrophy; clinical aspects, pathology, heredity, and relation to Oppenheim’s amyotonia congenita and other morbid conditions with laxity of the joints or muscles in children]. Nord Med. 1950;44:1499.
-
(1950)
Nord Med
, vol.44
, pp. 1499
-
-
Brandt, S.1
-
24
-
-
84941326312
-
Postmortem findings in a case of Wohlfart-Kugelberg-Welander disease
-
1:STN:280:DyaF1M%2FptVWqsA%3D%3D 4236559
-
Kohn R. Postmortem findings in a case of Wohlfart-Kugelberg-Welander disease. Confin Neurol. 1968;30:253-60.
-
(1968)
Confin Neurol.
, vol.30
, pp. 253-260
-
-
Kohn, R.1
-
25
-
-
0016232728
-
Functional cardio-respiratory repercussions of neuromuscular diseases of the thoraco-abdominal wall
-
1:STN:280:DyaE2M%2Fks1KitQ%3D%3D 4427864
-
Meunier-Carus J, Lonsdorfer J, Lampert E. [Functional cardio-respiratory repercussions of neuromuscular diseases of the thoraco-abdominal wall]. Poumon Coeur. 1974;30:13-9.
-
(1974)
Poumon Coeur
, vol.30
, pp. 13-19
-
-
Meunier-Carus, J.1
Lonsdorfer, J.2
Lampert, E.3
-
26
-
-
0017111784
-
Saito T
-
1:STN:280:DyaE287psVWrsg%3D%3D 944809 Anestheic management of patients with Kugelberg-Welander disease associated with heart disease
-
Okazaki K, Sakata S, Saito T. [Anestheic management of patients with Kugelberg-Welander disease associated with heart disease]. Masui. 1976;25:398-401.
-
(1976)
Masui
, vol.25
, pp. 398-401
-
-
Okazaki, K.1
Sakata, S.2
-
27
-
-
0142106663
-
Postmortem findings in a case of KW disease; presence of underdeveloped schwann cells and axons
-
Japan Medical Research Foundation University of Tokyo Press Tokyo
-
Ikuta F, Ohama E, Nakanishi T, Mannen T, Toyokura Y. Postmortem findings in a case of KW disease; presence of underdeveloped schwann cells and axons. In: Japan Medical Research Foundation, editor. Amyotrophic Lateral Sclerosis. Tokyo: University of Tokyo Press; 1979. p. 227-84.
-
(1979)
Amyotrophic Lateral Sclerosis
, pp. 227-284
-
-
Ikuta, F.1
Ohama, E.2
Nakanishi, T.3
Mannen, T.4
Toyokura, Y.5
-
28
-
-
0021309068
-
Myocardial lesions in several forms of progressive muscular atrophy
-
6720172
-
Popov’ian MD, Dubinskaia EE, Proshina OV, Tul’skaia MP, Loginova LA. [Myocardial lesions in several forms of progressive muscular atrophy]. Zh Nevropatol Psikhiatr Im S S Korsakova. 1984;84:330-5.
-
(1984)
Zh Nevropatol Psikhiatr Im S S Korsakova
, vol.84
, pp. 330-335
-
-
Popov’ian, M.D.1
Dubinskaia, E.E.2
Proshina, O.V.3
Tul’skaia, M.P.4
Loginova, L.A.5
-
29
-
-
0023489116
-
Cardiorespiratory responses to exercise in patients with spinal muscular atrophy and limb-girdle dystrophy
-
1:STN:280:DyaL1c3lt1Crug%3D%3D 3452446
-
Silva AC, Russo AK, Piçarro IC, Schmidt B, Gabbai A, Oliveira AS, Tarasantchi J. Cardiorespiratory responses to exercise in patients with spinal muscular atrophy and limb-girdle dystrophy. Braz J Med Biol Res. 1987;20:565-8.
-
(1987)
Braz J Med Biol Res.
, vol.20
, pp. 565-568
-
-
Silva, A.C.1
Russo, A.K.2
Piçarro, I.C.3
Schmidt, B.4
Gabbai, A.5
Oliveira, A.S.6
Tarasantchi, J.7
-
30
-
-
0024031430
-
Usefulness of ECG in the early diagnosis of infantile spinal muscular dystrophy
-
1:STN:280:DyaL1M%2FjvFGntg%3D%3D 3185431
-
Carboni P, Porro G. [Usefulness of ECG in the early diagnosis of infantile spinal muscular dystrophy]. Minerva Pediatr. 1988;40:321-5.
-
(1988)
Minerva Pediatr
, vol.40
, pp. 321-325
-
-
Carboni, P.1
Porro, G.2
-
31
-
-
0024745896
-
Spinal muscular atrophy: some easy clues to diagnosis
-
1:STN:280:DyaK3c3gt1SksQ%3D%3D 2630460
-
Gupta PC, Ahuja B, Dhamija K, Mullick DN. Spinal muscular atrophy: some easy clues to diagnosis. Indian Pediatr. 1989;26:977-80.
-
(1989)
Indian Pediatr.
, vol.26
, pp. 977-980
-
-
Gupta, P.C.1
Ahuja, B.2
Dhamija, K.3
Mullick, D.N.4
-
32
-
-
0026296808
-
Cardiomyopathies in children with neuromuscular disorders
-
1751640
-
Malcić I, Barisić N, Brzović Z, Pazanin L, Senecić I. Cardiomyopathies in children with neuromuscular disorders. Neurol Croat. 1991;40:221-30.
-
(1991)
Neurol Croat.
, vol.40
, pp. 221-230
-
-
Malcić, I.1
Barisić, N.2
Brzović, Z.3
Pazanin, L.4
Senecić, I.5
-
33
-
-
0029435346
-
Cardiovascular aberrations in patients with neuromuscular diseases
-
Zupan A. Cardiovascular aberrations in patients with neuromuscular diseases. Acta Cardiomiologica. 1995;7:107-11.
-
(1995)
Acta Cardiomiologica.
, vol.7
, pp. 107-111
-
-
Zupan, A.1
-
34
-
-
0034964001
-
Echocardiography in storage and neuromuscular disorders
-
11467086
-
Stöllberger C, Finsterer J. [Echocardiography in storage and neuromuscular disorders]. Wien Klin Wochenschr. 2001;113:408-15.
-
(2001)
Wien Klin Wochenschr
, vol.113
, pp. 408-415
-
-
Stöllberger, C.1
Finsterer, J.2
-
35
-
-
65449175318
-
Vaccinations in children’s palliative care - Our proposal for the algorithm
-
Matkowska-Kocjan A, Kuchar E, Szenborn L. Vaccinations in children’s palliative care - Our proposal for the algorithm. Onkol Pol. 2008;11(4):159-62.
-
(2008)
Onkol Pol
, vol.11
, Issue.4
, pp. 159-162
-
-
Matkowska-Kocjan, A.1
Kuchar, E.2
Szenborn, L.3
-
36
-
-
0018349699
-
Use of the ECG in the diagnosis of childhood spinal muscular atrophy
-
1:STN:280:DyaE1M7os1Ojtg%3D%3D 444102
-
Russman BS, Fredericks EJ. Use of the ECG in the diagnosis of childhood spinal muscular atrophy. Arch Neurol. 1979;36:317-8.
-
(1979)
Arch Neurol
, vol.36
, pp. 317-318
-
-
Russman, B.S.1
Fredericks, E.J.2
-
37
-
-
0020580911
-
Hand and ECG tremor in spinal muscular atrophy
-
1:STN:280:DyaL3s3ivFOlsw%3D%3D 6859919 1627871
-
Dawood A, Moosa A. Hand and ECG tremor in spinal muscular atrophy. Arch Dis Child. 1983;58:376-8.
-
(1983)
Arch Dis Child
, vol.58
, pp. 376-378
-
-
Dawood, A.1
Moosa, A.2
-
38
-
-
0021931762
-
Is Werdnig-Hoffmann disease a pure lower motor neuron disorder?
-
1:STN:280:DyaL2M7ksFSitA%3D%3D 3976363
-
Towfighi J, Young RS, Ward RM. Is Werdnig-Hoffmann disease a pure lower motor neuron disorder? Acta Neuropathol. 1985;65:270-80.
-
(1985)
Acta Neuropathol
, vol.65
, pp. 270-280
-
-
Towfighi, J.1
Young, R.S.2
Ward, R.M.3
-
39
-
-
0023138665
-
Echocardiography in neurological disorders
-
1:STN:280:DyaL2s3hvVKjsw%3D%3D 3556183
-
Lintermans JP. Echocardiography in neurological disorders. Eur J Pediatr. 1987;146:15-20.
-
(1987)
Eur J Pediatr
, vol.146
, pp. 15-20
-
-
Lintermans, J.P.1
-
40
-
-
0024414291
-
Electrocardiographic abnormalities in childhood spinal muscular atrophy
-
1:STN:280:DyaL1MzlvVensg%3D%3D 2767807
-
Coletta C, Carboni P, Carunchio A, Porro G, Bacci V. Electrocardiographic abnormalities in childhood spinal muscular atrophy. Int J Cardiol. 1989;24:283-8.
-
(1989)
Int J Cardiol
, vol.24
, pp. 283-288
-
-
Coletta, C.1
Carboni, P.2
Carunchio, A.3
Porro, G.4
Bacci, V.5
-
41
-
-
0025012962
-
Spinal muscular atrophy in African children
-
1:STN:280:DyaK3c7ptFWjsg%3D%3D 2314555
-
Moosa A, Dawood A. Spinal muscular atrophy in African children. Neuropediatrics. 1990;21:27-31.
-
(1990)
Neuropediatrics
, vol.21
, pp. 27-31
-
-
Moosa, A.1
Dawood, A.2
-
42
-
-
0025310718
-
Spinal muscular atrophy type I combined with atrial septal defect in three sibs
-
2208769
-
Møller P, Moe N, Saugstad OD, Skullerud K, Velken M, Berg K, Nitter-Hauge S, Børresen AL. Spinal muscular atrophy type I combined with atrial septal defect in three sibs. Clin Genet. 1990;38:81-3.
-
(1990)
Clin Genet
, vol.38
, pp. 81-83
-
-
Møller, P.1
Moe, N.2
Saugstad, O.D.3
Skullerud, K.4
Velken, M.5
Berg, K.6
Nitter-Hauge, S.7
Børresen, A.L.8
-
43
-
-
0028073027
-
Prenatal activity of a fetus with early-onset, severe spinal muscular atrophy
-
1:STN:280:DyaK2M7otlCgsQ%3D%3D 7877956
-
Kirkinen P, Ryynänen M, Haring P, Torkkeli H, Pääkkönen L, Martikainen A. Prenatal activity of a fetus with early-onset, severe spinal muscular atrophy. Prenat Diagn. 1994;14:1074-6.
-
(1994)
Prenat Diagn
, vol.14
, pp. 1074-1076
-
-
Kirkinen, P.1
Ryynänen, M.2
Haring, P.3
Torkkeli, H.4
Pääkkönen, L.5
Martikainen, A.6
-
44
-
-
0029113456
-
SMN gene deletion in variant of infantile spinal muscular atrophy
-
7630275
-
Bürglen L, Spiegel R, Ignatius J, Cobben JM, Landrieu P, Lefebvre S, Munnich A, Melki J, Burglen L. SMN gene deletion in variant of infantile spinal muscular atrophy. Lancet. 1995;346:316-7.
-
(1995)
Lancet
, vol.346
, pp. 316-317
-
-
Bürglen, L.1
Spiegel, R.2
Ignatius, J.3
Cobben, J.M.4
Landrieu, P.5
Lefebvre, S.6
Munnich, A.7
Melki, J.8
Burglen, L.9
-
45
-
-
0029926857
-
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings
-
8677029
-
Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K. 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
Wirth, B.4
Zerres, K.5
-
46
-
-
0029834810
-
Clinical and molecular genetic features of congenital spinal muscular atrophy
-
1:STN:280:DyaK2s7hsFyqtw%3D%3D 8957014
-
Devriendt K, Lammens M, Schollen E, Van Hole C, Dom R, Devlieger H, Cassiman JJ, Fryns JP, Matthijs G. Clinical and molecular genetic features of congenital spinal muscular atrophy. Ann Neurol. 1996;40:731-8.
-
(1996)
Ann Neurol
, vol.40
, pp. 731-738
-
-
Devriendt, K.1
Lammens, M.2
Schollen, E.3
Van Hole, C.4
Dom, R.5
Devlieger, H.6
Cassiman, J.J.7
Fryns, J.P.8
Matthijs, G.9
-
47
-
-
0030478478
-
Spinal muscular atrophy combined with congenital heart disease: a report of two cases
-
1:STN:280:DyaK2s3gt1Ggtw%3D%3D 9050054
-
Mulleners WM, van Ravenswaay CM, Gabreëls FJ, Hamel BC, van Oort A, Sengers RC. Spinal muscular atrophy combined with congenital heart disease: a report of two cases. Neuropediatrics. 1996;27:333-4.
-
(1996)
Neuropediatrics
, vol.27
, pp. 333-334
-
-
Mulleners, W.M.1
Van Ravenswaay, C.M.2
Gabreëls, F.J.3
Hamel, B.C.4
Van Oort, A.5
Sengers, R.C.6
-
48
-
-
9544255675
-
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association
-
8787675 507534
-
Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J. Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. J Clin Invest. 1996;98:1130-2.
-
(1996)
J Clin Invest
, vol.98
, pp. 1130-1132
-
-
Bürglen, L.1
Amiel, J.2
Viollet, L.3
Lefebvre, S.4
Burlet, P.5
Clermont, O.6
Raclin, V.7
Landrieu, P.8
Verloes, A.9
Munnich, A.10
Melki, J.11
-
49
-
-
0029981808
-
Electrocardiographic findings in children with spinal muscular atrophy
-
1:STN:280:DyaK283kvFWjsw%3D%3D 8676550
-
Huang JJ, Jong YJ, Huang MY, Chiang CH, Huang TY. Electrocardiographic findings in children with spinal muscular atrophy. Jpn Heart J. 1996;37:239-42.
-
(1996)
Jpn Heart J
, vol.37
, pp. 239-242
-
-
Huang, J.J.1
Jong, Y.J.2
Huang, M.Y.3
Chiang, C.H.4
Huang, T.Y.5
-
50
-
-
0030870721
-
Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene
-
1:STN:280:DyaK2svltVeltg%3D%3D 9305352
-
Bingham PM, Shen N, Rennert H, Rorke LB, Black AW, Marin-Padilla MM, Nordgren RE. Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene. Neurology. 1997;49:848-51.
-
(1997)
Neurology
, vol.49
, pp. 848-851
-
-
Bingham, P.M.1
Shen, N.2
Rennert, H.3
Rorke, L.B.4
Black, A.W.5
Marin-Padilla, M.M.6
Nordgren, R.E.7
-
51
-
-
0031044187
-
Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy
-
1:STN:280:DyaK2s3hsFCisQ%3D%3D 9061766
-
Rijhsinghani A, Yankowitz J, Howser D, Williamson R. Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy. Prenat Diagn. 1997;17:166-9.
-
(1997)
Prenat Diagn
, vol.17
, pp. 166-169
-
-
Rijhsinghani, A.1
Yankowitz, J.2
Howser, D.3
Williamson, R.4
-
52
-
-
0031720911
-
Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease
-
1:STN:280:DyaK1cvhvVynsQ%3D%3D 9748047
-
Jong YJ, Chang JG, Wu JR. Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease. Neurology. 1998;51:878-9.
-
(1998)
Neurology
, vol.51
, pp. 878-879
-
-
Jong, Y.J.1
Chang, J.G.2
Wu, J.R.3
-
53
-
-
0032931530
-
Prenatal onset spinal muscular atrophy
-
1:STN:280:DC%2BD3c7mslCisw%3D%3D 10700541
-
MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA. Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol. 1999;3:65-72.
-
(1999)
Eur J Paediatr Neurol
, vol.3
, pp. 65-72
-
-
MacLeod, M.J.1
Taylor, J.E.2
Lunt, P.W.3
Mathew, C.G.4
Robb, S.A.5
-
54
-
-
0036152924
-
Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance
-
1:STN:280:DC%2BD387gs12nsA%3D%3D 11826032 1734957
-
Courtens W, Johansson A-B, Dachy B, Avni F, Telerman-Toppet N, Scheffer H. Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance. J Med Genet. 2002;39:74-7.
-
(2002)
J Med Genet
, vol.39
, pp. 74-77
-
-
Courtens, W.1
Johansson, A.-B.2
Dachy, B.3
Avni, F.4
Telerman-Toppet, N.5
Scheffer, H.6
-
55
-
-
2642548220
-
Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation
-
15346918
-
El-Matary W, Kotagiri S, Cameron D, Peart I. Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation. Eur J Pediatr. 2004;163:331-2.
-
(2004)
Eur J Pediatr
, vol.163
, pp. 331-332
-
-
El-Matary, W.1
Kotagiri, S.2
Cameron, D.3
Peart, I.4
-
56
-
-
2342430842
-
Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion
-
14968368
-
García-Cabezas M a, García-Alix A, Martín Y, Gutiérrez M, Hernández C, Rodríguez JI, Morales C. Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion. Acta Neuropathol. 2004;107:475-8.
-
(2004)
Acta Neuropathol
, vol.107
, pp. 475-478
-
-
García-Cabezas, M.A.1
García-Alix, A.2
Martín, Y.3
Gutiérrez, M.4
Hernández, C.5
Rodríguez, J.I.6
Morales, C.7
-
57
-
-
32044463813
-
An infant with hypoplastic left heart syndrome and spinal muscular atrophy
-
16454882
-
Cook AL, Curzon CL, Milazzo AS. An infant with hypoplastic left heart syndrome and spinal muscular atrophy. Cardiol Young. 2006;16:78-80.
-
(2006)
Cardiol Young
, vol.16
, pp. 78-80
-
-
Cook, A.L.1
Curzon, C.L.2
Milazzo, A.S.3
-
58
-
-
33750213954
-
Hypoplastisch linkerhartsyndroom als uiting van een bijzondere vorm van de ziekte van Werdnig-Hoffmann
-
Menke L a, Poll-The BT, Rozemuller JM, LoaNjoe SM, Lemmink HH, Cobben JM. Hypoplastisch linkerhartsyndroom als uiting van een bijzondere vorm van de ziekte van Werdnig-Hoffmann. Tijdschr Kindergeneeskd. 2006;74:214-7.
-
(2006)
Tijdschr Kindergeneeskd
, vol.74
, pp. 214-217
-
-
Menke, L.A.1
Poll-The, B.T.2
Rozemuller, J.M.3
LoaNjoe, S.M.4
Lemmink, H.H.5
Cobben, J.M.6
-
59
-
-
34347231532
-
Motor neuron degeneration in a 20-week male fetus: spinal muscular atrophy type 0
-
17598601
-
Sarnat HB, Trevenen CL. Motor neuron degeneration in a 20-week male fetus: spinal muscular atrophy type 0. Can J Neurol Sci. 2007;34:215-20.
-
(2007)
Can J Neurol Sci
, vol.34
, pp. 215-220
-
-
Sarnat, H.B.1
Trevenen, C.L.2
-
60
-
-
34249861862
-
Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect
-
17608308
-
Vaidla E, Talvik I, Kulla A, Sibul H, Maasalu K, Metsvaht T, Piirsoo A, Talvik T. Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect. J Child Neurol. 2007;22:67-70.
-
(2007)
J Child Neurol
, vol.22
, pp. 67-70
-
-
Vaidla, E.1
Talvik, I.2
Kulla, A.3
Sibul, H.4
Maasalu, K.5
Metsvaht, T.6
Piirsoo, A.7
Talvik, T.8
-
61
-
-
34247522015
-
Medical considerations of long-term survival of Werdnig-Hoffmann disease
-
17449979
-
Bach JR. Medical considerations of long-term survival of Werdnig-Hoffmann disease. Am J Phys Med Rehabil. 2007;86:349-55.
-
(2007)
Am J Phys Med Rehabil
, vol.86
, pp. 349-355
-
-
Bach, J.R.1
-
62
-
-
40449084094
-
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature
-
18266240
-
Menke LA, Poll-The BT, Clur SA, Bilardo CM, van der Wal AC, Lemmink HH, Cobben JM. 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. 2008;146A:740-4.
-
(2008)
Am J Med Genet A
, vol.146 A
, 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
-
63
-
-
54049121013
-
Congenital heart disease is a feature of severe infantile spinal muscular atrophy
-
1:STN:280:DC%2BD1cnkt1Whtw%3D%3D 18662980
-
Rudnik-Schoneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K, Rudnik-Schöneborn S. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet. 2008;45:635-8.
-
(2008)
J Med Genet
, vol.45
, pp. 635-638
-
-
Rudnik-Schoneborn, S.1
Heller, R.2
Berg, C.3
Betzler, C.4
Grimm, T.5
Eggermann, T.6
Eggermann, K.7
Wirth, R.8
Wirth, B.9
Zerres, K.10
Rudnik-Schöneborn, S.11
-
64
-
-
67651083652
-
prufer de QCAA prufer de QC, Araujo M, Swoboda KJ, Araujo Ade Q. Vascular perfusion abnormalities in infants with spinal muscular atrophy
-
Araujo A prufer de QCAA prufer de QC, Araujo M, Swoboda KJ, Araujo Ade Q. Vascular perfusion abnormalities in infants with spinal muscular atrophy. J Pediatr. 2009;155:292-4.
-
(2009)
J Pediatr
, vol.155
, pp. 292-294
-
-
Araujo, A.1
-
65
-
-
76049088893
-
Werdnig-Hoffmann disease: report of the first case clinically identified and genetically confirmed in central Africa (Kinshasa-Congo)
-
1:STN:280:DC%2BC3c7hsVaitw%3D%3D 20162870
-
Lumaka A, Bone D, Lukoo R, Mujinga N, Senga I, Tady B, Matthijs G, Lukusa TP. Werdnig-Hoffmann disease: report of the first case clinically identified and genetically confirmed in central Africa (Kinshasa-Congo). Genet Couns. 2009;20:349-58.
-
(2009)
Genet Couns
, vol.20
, pp. 349-358
-
-
Lumaka, A.1
Bone, D.2
Lukoo, R.3
Mujinga, N.4
Senga, I.5
Tady, B.6
Matthijs, G.7
Lukusa, T.P.8
-
66
-
-
77954132733
-
Digital necroses and vascular thrombosis in severe spinal muscular atrophy
-
20583119
-
Rudnik-Schöneborn S, Vogelgesang S, Armbrust S, Graul-Neumann L, Fusch C, Zerres K. Digital necroses and vascular thrombosis in severe spinal muscular atrophy. Muscle Nerve. 2010;42:144-7.
-
(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
-
67
-
-
84863877832
-
Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number
-
1:CAS:528:DC%2BC38XhtVKgurvJ 22082206
-
Parra J, Alias L, Also-Rallo E, Martínez-Hernández R, Senosiain R, Medina C, Alejos O, Rams N, Amenedo M, Ormo F, Jesús Barceló M, Calaf J, Baiget M, Bernal S, Tizzano EF. Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number. J Matern Fetal Neonatal Med. 2012;25:1246-9.
-
(2012)
J Matern Fetal Neonatal Med
, vol.25
, pp. 1246-1249
-
-
Parra, J.1
Alias, L.2
Also-Rallo, E.3
Martínez-Hernández, R.4
Senosiain, R.5
Medina, C.6
Alejos, O.7
Rams, N.8
Amenedo, M.9
Ormo, F.10
Jesús Barceló, M.11
Calaf, J.12
Baiget, M.13
Bernal, S.14
Tizzano, E.F.15
-
68
-
-
84864284529
-
An infant with spinal muscular atrophy and tetrology of Fallot
-
22366241
-
Ekici B, Demir IH, Ocak S, Yesil G, Tatli B, Celebi A, Yeşil G, Tatlı B, Çelebi A. An infant with spinal muscular atrophy and tetrology of Fallot. Clin Neurol Neurosurg. 2012;114:1033-4.
-
(2012)
Clin Neurol Neurosurg
, vol.114
, pp. 1033-1034
-
-
Ekici, B.1
Demir, I.H.2
Ocak, S.3
Yesil, G.4
Tatli, B.5
Celebi, A.6
Yeşil, G.7
Tatlı, B.8
Çelebi, A.9
-
69
-
-
84921341220
-
Type 0 spinal muscular atrophy with multisystem involvement
-
25432229
-
Khera S, Ghuliani R. Type 0 spinal muscular atrophy with multisystem involvement. Indian Pediatr. 2014;51:923-4.
-
(2014)
Indian Pediatr
, vol.51
, pp. 923-924
-
-
Khera, S.1
Ghuliani, R.2
-
70
-
-
84859816485
-
Childhood spinal muscular atrophy: controversies and challenges
-
22516079
-
Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012;11:443-52.
-
(2012)
Lancet Neurol
, vol.11
, pp. 443-452
-
-
Mercuri, E.1
Bertini, E.2
Iannaccone, S.T.3
-
71
-
-
85011034353
-
Van den Berg LH, Dooijes D, Van der Pol W-L. Association of motor milestones and SMN2 copy and outcome in spinal muscular atrophy types 0-4
-
in press
-
Wadman RI, Stam M, Gijzen M, Lemmink HH, Snoeck IN, Wijngaarde CA, Braun KPJ, SChoenmakers MAGC, Van den Berg LH, Dooijes D, Van der Pol W-L. Association of motor milestones and SMN2 copy and outcome in spinal muscular atrophy types 0-4. J Neurol Neurosurg Psychiatry. 2016. (in press)
-
(2016)
J Neurol Neurosurg Psychiatry
-
-
Wadman, R.I.1
Stam, M.2
Gijzen, M.3
Lemmink, H.H.4
Snoeck, I.N.5
Wijngaarde, C.A.6
Braun, K.P.J.7
SChoenmakers, M.A.G.C.8
-
72
-
-
0028820179
-
Profiles of neuromuscular diseases. Spinal muscular atrophy
-
1:STN:280:DyaK28%2Fjs1GksA%3D%3D 7576422
-
Carter GT, Abresch RT, Fowler WM, Johnson ER, Kilmer DD, McDonald CM. Profiles of neuromuscular diseases. Spinal muscular atrophy. Am J Phys Med Rehabil. 1995;74(5 Suppl):S150-9.
-
(1995)
Am J Phys Med Rehabil
, vol.74
, pp. S150-S159
-
-
Carter, G.T.1
Abresch, R.T.2
Fowler, W.M.3
Johnson, E.R.4
Kilmer, D.D.5
McDonald, C.M.6
-
73
-
-
0014110917
-
Benign spinal muscular atrophy arising in childhood and adolescence
-
1:STN:280:DyaF1c%2FlsFGhug%3D%3D 6061756
-
Gardner-Medwin D, Hudgson P, Walton JN. Benign spinal muscular atrophy arising in childhood and adolescence. J Neurol Sci. 1967;5:121-58.
-
(1967)
J Neurol Sci
, vol.5
, pp. 121-158
-
-
Gardner-Medwin, D.1
Hudgson, P.2
Walton, J.N.3
-
74
-
-
0015315199
-
Abnormalities of the electrocardiogram in hereditary myopathies
-
1:STN:280:DyaE387ot1Gjtw%3D%3D 5025488 1469217
-
Emery AE. Abnormalities of the electrocardiogram in hereditary myopathies. J Med Genet. 1972;9:8-12.
-
(1972)
J Med Genet
, vol.9
, pp. 8-12
-
-
Emery, A.E.1
-
75
-
-
85018472655
-
Electrophysiological and Histological Studies of the Heart in Myotonic Dystrophy and Kugelberg-Welander’s Disease. Proceeding of the 38th Annual Meeting
-
Nuruki K, Tanaka H, Nishi S, Uemura N, Toyama Y, Kanehisa T, Tanaka N, Ohshige K, Ohkatsu Y, Igata A. Electrophysiological and Histological Studies of the Heart in Myotonic Dystrophy and Kugelberg-Welander’s Disease. Proceeding of the 38th Annual Meeting. Jpn Circ J. 1974;38:644.
-
(1974)
Jpn Circ J
, vol.38
, pp. 644
-
-
Nuruki, K.1
Tanaka, H.2
Nishi, S.3
Uemura, N.4
Toyama, Y.5
Kanehisa, T.6
Tanaka, N.7
Ohshige, K.8
Ohkatsu, Y.9
Igata, A.10
-
76
-
-
0016243179
-
Spinal cord limb motor neurones in muscular dystrophy
-
1:STN:280:DyaE2c3mt1WktA%3D%3D 4836660
-
Tomlinson BE, Walton JN, Irving D. Spinal cord limb motor neurones in muscular dystrophy. J Neurol Sci. 1974;22:305-27.
-
(1974)
J Neurol Sci
, vol.22
, pp. 305-327
-
-
Tomlinson, B.E.1
Walton, J.N.2
Irving, D.3
-
77
-
-
0017101630
-
Cardiac involvement in the Kugelberg-Welander syndrome
-
1:STN:280:DyaE2s%2FhvFamtg%3D%3D 135509
-
Tanaka H, Uemura N, Toyama Y, Kudo A, Ohkatsu Y, Kenehisa T. Cardiac involvement in the Kugelberg-Welander syndrome. Am J Cardiol. 1976;38:528-32.
-
(1976)
Am J Cardiol
, vol.38
, pp. 528-532
-
-
Tanaka, H.1
Uemura, N.2
Toyama, Y.3
Kudo, A.4
Ohkatsu, Y.5
Kenehisa, T.6
-
78
-
-
0017584747
-
Myocardial ultrastructural changes in Kugelberg-Welander syndrome
-
1:STN:280:DyaE1c7gtlKltQ%3D%3D 603743 483427
-
Tanaka H, Nishi S, Nuruki K, Tanaka N. Myocardial ultrastructural changes in Kugelberg-Welander syndrome. Br Heart J. 1977;39:1390-3.
-
(1977)
Br Heart J
, vol.39
, pp. 1390-1393
-
-
Tanaka, H.1
Nishi, S.2
Nuruki, K.3
Tanaka, N.4
-
79
-
-
0018854604
-
A case of the Kugelberg-Welander syndrome complicated with cardiac lesions
-
1:STN:280:DyaL3c3lt1Snug%3D%3D 6447213
-
Kimura S, Yokota H, Tateda K, Miyamoto K, Yamamoto K, Shibata J. A case of the Kugelberg-Welander syndrome complicated with cardiac lesions. Jpn Heart J. 1980;21:417-22.
-
(1980)
Jpn Heart J
, vol.21
, pp. 417-422
-
-
Kimura, S.1
Yokota, H.2
Tateda, K.3
Miyamoto, K.4
Yamamoto, K.5
Shibata, J.6
-
80
-
-
0020315459
-
Association of cardiomyopathy with Kugelberg-Welander disease
-
1:STN:280:DyaL3s%2Fgs1Cjuw%3D%3D 7118527
-
Ceroni M, Grandi A, Poloni M, Venco A. Association of cardiomyopathy with Kugelberg-Welander disease. Ital J Neurol Sci. 1982;3:143-7.
-
(1982)
Ital J Neurol Sci
, vol.3
, pp. 143-147
-
-
Ceroni, M.1
Grandi, A.2
Poloni, M.3
Venco, A.4
-
82
-
-
0023684090
-
Kardiale Befunde bei verschiedenen Formen der Muskeldystrophie und neurogenen Muskelatrophie im Kindes- und Jugendalter
-
Stegaru-Hellring B, Nitsche A, Struwe O, Berlit P, Lipinski CG, Brittinger WD. Kardiale Befunde bei verschiedenen Formen der Muskeldystrophie und neurogenen Muskelatrophie im Kindes- und Jugendalter. Aktuelle Neurol. 1988;15:102-6.
-
(1988)
Aktuelle Neurol
, vol.15
, pp. 102-106
-
-
Stegaru-Hellring, B.1
Nitsche, A.2
Struwe, O.3
Berlit, P.4
Lipinski, C.G.5
Brittinger, W.D.6
-
83
-
-
0026057561
-
[Pathological anatomy of the heart in myopathies and infantile muscular atrophies]
-
1:STN:280:DyaK3M3msVCnsQ%3D%3D
-
Bataille J, Guillon F, Urtizberea A, Estournet B, Richard S, Barois A. [Pathological anatomy of the heart in myopathies and infantile muscular atrophies]. Ann Med Interne (Paris). 1991;142:5-8.
-
(1991)
Ann Med Interne (Paris)
, vol.142
, pp. 5-8
-
-
Bataille, J.1
Guillon, F.2
Urtizberea, A.3
Estournet, B.4
Richard, S.5
Barois, A.6
-
84
-
-
0029992151
-
Cardiac involvement in Kugelberg-Welander disease. A prospective study of 8 cases
-
1:STN:280:DyaK28zjt1Ohuw%3D%3D 8758571
-
Elkohen M, Vaksmann G, Elkohen MR, Francart C, Foucher C, Rey C. Cardiac involvement in Kugelberg-Welander disease. A prospective study of 8 cases. Arch Mal Coeur Vaiss. 1996;89:611-7.
-
(1996)
Arch Mal Coeur Vaiss
, vol.89
, pp. 611-617
-
-
Elkohen, M.1
Vaksmann, G.2
Elkohen, M.R.3
Francart, C.4
Foucher, C.5
Rey, C.6
-
85
-
-
0033620928
-
Atrial standstill in a case of Kugelberg-Welander syndrome with cardiac involvement: an electrophysiologic study
-
1:STN:280:DyaK1Mzot1Witw%3D%3D 10454312
-
Liu YB, Chen WJ, Lee YT. Atrial standstill in a case of Kugelberg-Welander syndrome with cardiac involvement: an electrophysiologic study. Int J Cardiol. 1999;70:207-10.
-
(1999)
Int J Cardiol
, vol.70
, pp. 207-210
-
-
Liu, Y.B.1
Chen, W.J.2
Lee, Y.T.3
-
86
-
-
8844272596
-
Dilated cardiomyopathy in Kugelberg-Welander disease: coexisting sleep disordered breathing and its treatment with continuous positive airway pressure
-
15575246
-
Yasuma F, Kuru S, Konagaya M. Dilated cardiomyopathy in Kugelberg-Welander disease: coexisting sleep disordered breathing and its treatment with continuous positive airway pressure. Intern Med. 2004;43:951-4.
-
(2004)
Intern Med
, vol.43
, pp. 951-954
-
-
Yasuma, F.1
Kuru, S.2
Konagaya, M.3
-
87
-
-
33845769930
-
Cardiac involvement in Kugelberg-Welander disease: a case report and review
-
17170627
-
Takahashi N, Shimada T, Ishibashi Y, Sugamori T, Hirano Y, Oyake N, Murakami Y. Cardiac involvement in Kugelberg-Welander disease: a case report and review. Am J Med Sci. 2006;332:354-6.
-
(2006)
Am J Med Sci
, vol.332
, pp. 354-356
-
-
Takahashi, N.1
Shimada, T.2
Ishibashi, Y.3
Sugamori, T.4
Hirano, Y.5
Oyake, N.6
Murakami, Y.7
-
88
-
-
60849117556
-
Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease)
-
19175839
-
Roos M, Sarkozy A, Chierchia GB, De Wilde P, Schmedding E, Brugada P. Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease). J Cardiovasc Electrophysiol. 2009;20:342-4.
-
(2009)
J Cardiovasc Electrophysiol
, vol.20
, pp. 342-344
-
-
Roos, M.1
Sarkozy, A.2
Chierchia, G.B.3
De Wilde, P.4
Schmedding, E.5
Brugada, P.6
-
89
-
-
58449137250
-
An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)
-
18410269
-
Kuru S, Sakai M, Konagaya M, Yoshida M, Hashizume Y, Saito K. An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease). Neuropathology. 2009;29:63-7.
-
(2009)
Neuropathology
, vol.29
, pp. 63-67
-
-
Kuru, S.1
Sakai, M.2
Konagaya, M.3
Yoshida, M.4
Hashizume, Y.5
Saito, K.6
-
90
-
-
84862998103
-
Reversal of neuromuscular blockade with sugammadex in a patient with spinal muscular atrophy type III (Kugelberg-Welander syndrome)
-
22198219
-
Vilela H, Santos J, Colaço J, Oliveira E, Canas-da-Silva P. Reversal of neuromuscular blockade with sugammadex in a patient with spinal muscular atrophy type III (Kugelberg-Welander syndrome). J Anesth. 2012;26:306-7.
-
(2012)
J Anesth
, vol.26
, pp. 306-307
-
-
Vilela, H.1
Santos, J.2
Colaço, J.3
Oliveira, E.4
Canas-Da-Silva, P.5
-
91
-
-
84933277505
-
The Role of Electrocardiography in the Diagnosis of Spinal Muscular Atrophy Type III
-
25661413
-
Haliloglu G, Gungor M, Anlar B. The Role of Electrocardiography in the Diagnosis of Spinal Muscular Atrophy Type III. J Pediatr. 2015;166:1092.
-
(2015)
J Pediatr
, vol.166
, pp. 1092
-
-
Haliloglu, G.1
Gungor, M.2
Anlar, B.3
-
92
-
-
77957741150
-
Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
-
1:CAS:528:DC%2BC3cXht1eqtL7I 20639395 2947399
-
Bevan AK, Hutchinson KR, Foust KD, Braun L, McGovern VL, Schmelzer L, Ward JG, Petruska JC, Lucchesi P a, Burghes AHM, Kaspar BK. Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet. 2010;19:3895-905.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3895-3905
-
-
Bevan, A.K.1
Hutchinson, K.R.2
Foust, K.D.3
Braun, L.4
McGovern, V.L.5
Schmelzer, L.6
Ward, J.G.7
Petruska, J.C.8
Lucchesi, P.A.9
Burghes, A.H.M.10
Kaspar, B.K.11
-
93
-
-
77957735974
-
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
-
1:CAS:528:DC%2BC3cXht1eqtL3N 20693262 2947406
-
Heier CR, Satta R, Lutz C, DiDonato CJ. Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. Hum Mol Genet. 2010;19:3906-18.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3906-3918
-
-
Heier, C.R.1
Satta, R.2
Lutz, C.3
DiDonato, C.J.4
-
94
-
-
77957729453
-
Cardiac defects contribute to the pathology of spinal muscular atrophy models
-
1:CAS:528:DC%2BC3cXht1eqtL7K 20696672
-
Shababi M, Habibi J, Yang HT, Vale SM, Sewell WA, Lorson CL. Cardiac defects contribute to the pathology of spinal muscular atrophy models. Hum Mol Genet. 2010;19:4059-71.
-
(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
-
95
-
-
84858054407
-
Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction
-
1:CAS:528:DC%2BC38XktlOlt7o%3D 22423102 3679185
-
Gogliotti RG, Quinlan K a, Barlow CB, Heier CR, Heckman CJ, Didonato CJ. Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci. 2012;32:3818-29.
-
(2012)
J Neurosci
, vol.32
, pp. 3818-3829
-
-
Gogliotti, R.G.1
Quinlan, K.A.2
Barlow, C.B.3
Heier, C.R.4
Heckman, C.J.5
Didonato, C.J.6
-
96
-
-
84869794844
-
Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice
-
1:CAS:528:DC%2BC3sXovFSntw%3D%3D 22930275 3528999
-
Biondi O, Lopes P, Desseille C, Branchu J, Chali F, Ben Salah A, Pariset C, Chanoine C, Charbonnier F. Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice. J Physiol. 2012;590(Pt 22):5907-25.
-
(2012)
J Physiol
, vol.590
, pp. 5907-5925
-
-
Biondi, O.1
Lopes, P.2
Desseille, C.3
Branchu, J.4
Chali, F.5
Ben Salah, A.6
Pariset, C.7
Chanoine, C.8
Charbonnier, F.9
-
97
-
-
84867137359
-
Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models
-
1:CAS:528:DC%2BC38XhsVartrjF 22802075 3459466
-
Osborne M, Gomez D, Feng Z, McEwen C, Beltran J, Cirillo K, El-Khodor B, Lin M-Y, Li Y, Knowlton WM, McKemy DD, Bogdanik L, Butts-Dehm K, Martens K, Davis C, Doty R, Wardwell K, Ghavami A, Kobayashi D, Ko C-P, Ramboz S, Lutz C. Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models. Hum Mol Genet. 2012;21:4431-47.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4431-4447
-
-
Osborne, M.1
Gomez, D.2
Feng, Z.3
McEwen, C.4
Beltran, J.5
Cirillo, K.6
El-Khodor, B.7
Lin, M.-Y.8
Li, Y.9
Knowlton, W.M.10
McKemy, D.D.11
Bogdanik, L.12
Butts-Dehm, K.13
Martens, K.14
Davis, C.15
Doty, R.16
Wardwell, K.17
Ghavami, A.18
Kobayashi, D.19
Ko, C.-P.20
Ramboz, S.21
Lutz, C.22
more..
-
98
-
-
84859650546
-
Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy
-
1:CAS:528:DC%2BC38XhvVOrurw%3D 22285962 3327806
-
Shababi M, Habibi J, Ma L, Glascock JJ, Sowers JR, Lorson CL. Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy. J Mol Cell Cardiol. 2012;52:1074-82.
-
(2012)
J Mol Cell Cardiol
, vol.52
, pp. 1074-1082
-
-
Shababi, M.1
Habibi, J.2
Ma, L.3
Glascock, J.J.4
Sowers, J.R.5
Lorson, C.L.6
-
99
-
-
84885922032
-
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585
-
1:CAS:528:DC%2BC3sXnvFyhtbs%3D 23073311
-
Schreml J, Riessland M, Paterno M, Garbes L, Rossbach K, Ackermann B, Kramer J, Somers E, Parson SH, Heller R, Berkessel A, Sterner-Kock A, Wirth B, Roßbach K, Krämer J. Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585. Eur J Hum Genet. 2013;21:643-52.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 643-652
-
-
Schreml, J.1
Riessland, M.2
Paterno, M.3
Garbes, L.4
Rossbach, K.5
Ackermann, B.6
Kramer, J.7
Somers, E.8
Parson, S.H.9
Heller, R.10
Berkessel, A.11
Sterner-Kock, A.12
Wirth, B.13
Roßbach, K.14
Krämer, J.15
-
100
-
-
84875928098
-
Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy
-
1:CAS:528:DC%2BC3sXlsVCjtLg%3D 23390132
-
Cobb MS, Rose FF, Rindt H, Glascock JJ, Shababi M, Miller MR, Osman EY, Yen P-F, Garcia ML, Martin BR, Wetz MJ, Mazzasette C, Feng Z, Ko C-P, Lorson CL. Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Hum Mol Genet. 2013;22:1843-55.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 1843-1855
-
-
Cobb, M.S.1
Rose, F.F.2
Rindt, H.3
Glascock, J.J.4
Shababi, M.5
Miller, M.R.6
Osman, E.Y.7
Yen, P.-F.8
Garcia, M.L.9
Martin, B.R.10
Wetz, M.J.11
Mazzasette, C.12
Feng, Z.13
Ko, C.-P.14
Lorson, C.L.15
-
101
-
-
84903778434
-
A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophy
-
1:CAS:528:DC%2BC2cXhsFagtbfE 25004100 4121513
-
Keil JM, Seo J, Howell MD, Hsu WH, Singh RN, DiDonato CJ. A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophy. Mol Ther Nucleic Acids. 2014;3:e174.
-
(2014)
Mol Ther Nucleic Acids
, vol.3
, pp. e174
-
-
Keil, J.M.1
Seo, J.2
Howell, M.D.3
Hsu, W.H.4
Singh, R.N.5
DiDonato, C.J.6
-
102
-
-
84905456909
-
Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice
-
1:CAS:528:DC%2BC2cXpsVKjtrY%3D 24814151 4435595
-
Tsai L-K, Chen C-L, Ting C-H, Lin-Chao S, Hwu W-L, Dodge JC, Passini M a, Cheng SH. Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice. Mol Ther. 2014;22:1450-9.
-
(2014)
Mol Ther
, vol.22
, pp. 1450-1459
-
-
Tsai, L.-K.1
Chen, C.-L.2
Ting, C.-H.3
Lin-Chao, S.4
Hwu, W.-L.5
Dodge, J.C.6
Passini, M.A.7
Cheng, S.H.8
-
103
-
-
84964315458
-
ECG in neonate mice with spinal muscular atrophy allows assessment of drug efficacy
-
Heier CR, DiDonato CJ. ECG in neonate mice with spinal muscular atrophy allows assessment of drug efficacy. Front Biosci (Elite Ed). 2015;7:107-16.
-
(2015)
Front Biosci (Elite Ed)
, vol.7
, pp. 107-116
-
-
Heier, C.R.1
DiDonato, C.J.2
-
104
-
-
84945941526
-
Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy
-
1:CAS:528:DC%2BC2MXhs1CntrvF 26460027 4629342
-
Bogdanik LP, Osborne MA, Davis C, Martin WP, Austin A, Rigo F, Bennett CF, Lutz CM. Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy. Proc Natl Acad Sci U S A. 2015;112:E5863-72.
-
(2015)
Proc Natl Acad Sci U S A
, vol.112
, pp. E5863-E5872
-
-
Bogdanik, L.P.1
Osborne, M.A.2
Davis, C.3
Martin, W.P.4
Austin, A.5
Rigo, F.6
Bennett, C.F.7
Lutz, C.M.8
-
105
-
-
0015029234
-
Congenital heart disease in 56,109 births. Incidence and natural history
-
1:STN:280:DyaE3M7jtlyltA%3D%3D 5102136
-
Mitchell SC, Korones SB, Berendes HW. Congenital heart disease in 56,109 births. Incidence and natural history. Circulation. 1971;43:323-32.
-
(1971)
Circulation
, vol.43
, pp. 323-332
-
-
Mitchell, S.C.1
Korones, S.B.2
Berendes, H.W.3
-
106
-
-
0018160403
-
Congenital heart disease in a cohort of 19,502 births with long-term follow-up
-
1:STN:280:DyaE1M%2FhvVOmug%3D%3D 696646
-
Hoffman JI, Christianson R. Congenital heart disease in a cohort of 19,502 births with long-term follow-up. Am J Cardiol. 1978;42:641-7.
-
(1978)
Am J Cardiol
, vol.42
, pp. 641-647
-
-
Hoffman, J.I.1
Christianson, R.2
-
107
-
-
0037134945
-
The incidence of congenital heart disease
-
12084585
-
Hoffman JIE, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39:1890-900.
-
(2002)
J Am Coll Cardiol
, vol.39
, pp. 1890-1900
-
-
Hoffman, J.I.E.1
Kaplan, S.2
-
109
-
-
78651515983
-
The changing epidemiology of congenital heart disease
-
21045784
-
van der Bom T, Zomer a C, Zwinderman AH, Meijboom FJ, Bouma BJ, Mulder BJM. The changing epidemiology of congenital heart disease. Nat Rev Cardiol. 2011;8:50-60.
-
(2011)
Nat Rev Cardiol
, vol.8
, pp. 50-60
-
-
Van der Bom, T.1
Zomer, A.C.2
Zwinderman, A.H.3
Meijboom, F.J.4
Bouma, B.J.5
Mulder, B.J.M.6
-
110
-
-
84875703527
-
Congenital Heart Disease in Children and Adolescents
-
Fuster V, Walsh RA, Harrington RA. 13th edition. New York: McGraw-Hill
-
Brown DW, Fulton DR. Congenital Heart Disease in Children and Adolescents. In: Fuster V, Walsh RA, Harrington RA. Hurst’s The Heart, 13th edition. New York: McGraw-Hill; 2011.
-
(2011)
Hurst's The Heart
-
-
Brown, D.W.1
Fulton, D.R.2
-
111
-
-
84874473309
-
Incidence and prevalence of atrial fibrillation: an analysis based on 8.3 million patients
-
23220354
-
Wilke T, Groth A, Mueller S, Pfannkuche M, Verheyen F, Linder R, Maywald U, Bauersachs R, Breithardt G. Incidence and prevalence of atrial fibrillation: an analysis based on 8.3 million patients. Europace. 2013;15:486-93.
-
(2013)
Europace
, vol.15
, pp. 486-493
-
-
Wilke, T.1
Groth, A.2
Mueller, S.3
Pfannkuche, M.4
Verheyen, F.5
Linder, R.6
Maywald, U.7
Bauersachs, R.8
Breithardt, G.9
-
112
-
-
0033671651
-
Incidence and predictors of atrial flutter in the general population
-
1:STN:280:DC%2BD3M%2FnslaqtA%3D%3D 11127467
-
Granada J, Uribe W, Chyou PH, Maassen K, Vierkant R, Smith PN, Hayes J, Eaker E, Vidaillet H. Incidence and predictors of atrial flutter in the general population. J Am Coll Cardiol. 2000;36:2242-6.
-
(2000)
J Am Coll Cardiol
, vol.36
, pp. 2242-2246
-
-
Granada, J.1
Uribe, W.2
Chyou, P.H.3
Maassen, K.4
Vierkant, R.5
Smith, P.N.6
Hayes, J.7
Eaker, E.8
Vidaillet, H.9
-
113
-
-
84897831871
-
Role of the autonomic nervous system in modulating cardiac arrhythmias
-
1:CAS:528:DC%2BC2cXktF2lurk%3D 24625726
-
Shen MJ, Zipes DP. Role of the autonomic nervous system in modulating cardiac arrhythmias. Circ Res. 2014;114:1004-21.
-
(2014)
Circ Res
, vol.114
, pp. 1004-1021
-
-
Shen, M.J.1
Zipes, D.P.2
-
114
-
-
84897508169
-
Aging and Cardiac Fibrosis
-
21837283 3153299
-
Biernacka A, Frangogiannis NG. Aging and Cardiac Fibrosis. Aging Dis. 2011;2:158-73.
-
(2011)
Aging Dis
, vol.2
, pp. 158-173
-
-
Biernacka, A.1
Frangogiannis, N.G.2
-
115
-
-
84867555865
-
An SMN-dependent U12 splicing event essential for motor circuit function
-
1:CAS:528:DC%2BC38XhsV2qu7vK 23063131 3474596
-
Lotti F, Imlach WL, Saieva L, Beck ES, Hao LT, Li DK, Jiao W, Mentis GZ, Beattie CE, McCabe BD, Pellizzoni L. An SMN-dependent U12 splicing event essential for motor circuit function. Cell. 2012;151:440-54.
-
(2012)
Cell
, vol.151
, pp. 440-454
-
-
Lotti, F.1
Imlach, W.L.2
Saieva, L.3
Beck, E.S.4
Hao, L.T.5
Li, D.K.6
Jiao, W.7
Mentis, G.Z.8
Beattie, C.E.9
McCabe, B.D.10
Pellizzoni, L.11
-
116
-
-
84890131445
-
Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
-
1:CAS:528:DC%2BC3sXhvFegtr%2FP 23876144
-
Shababi M, Lorson CL, Rudnik-Schöneborn SS. Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease? J Anat. 2014;224:15-28.
-
(2014)
J Anat
, vol.224
, pp. 15-28
-
-
Shababi, M.1
Lorson, C.L.2
Rudnik-Schöneborn, S.S.3
-
117
-
-
84858072544
-
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
-
Bowerman M, Murray LM, Beauvais A, Pinheiro B, Kothary R. A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology. Neuromuscul Disord. 2012;22:262-76.
-
(2012)
Neuromuscul Disord
, vol.22
, pp. 262-276
-
-
Bowerman, M.1
Murray, L.M.2
Beauvais, A.3
Pinheiro, B.4
Kothary, R.5
-
118
-
-
48249145306
-
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
-
1:CAS:528:DC%2BD1cXptVert7g%3D 18492800 2722888
-
Kariya S, Park G-H, Maeno-Hikichi Y, Leykekhman O, Lutz C, Arkovitz MS, Landmesser LT, Monani UR. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008;17:2552-69.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2552-2569
-
-
Kariya, S.1
Park, G.-H.2
Maeno-Hikichi, Y.3
Leykekhman, O.4
Lutz, C.5
Arkovitz, M.S.6
Landmesser, L.T.7
Monani, U.R.8
-
119
-
-
77956603926
-
Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene
-
1:CAS:528:DC%2BC3cXhtF2qsLbO 20826664 2944776
-
Park GH, Maeno-Hikichi Y, Awano T, Landmesser LT, Monani UR. Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J Neurosci. 2010;30:12005-19.
-
(2010)
J Neurosci
, vol.30
, pp. 12005-12019
-
-
Park, G.H.1
Maeno-Hikichi, Y.2
Awano, T.3
Landmesser, L.T.4
Monani, U.R.5
-
120
-
-
0035038659
-
The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain
-
1:CAS:528:DC%2BD3MXjtFOlt78%3D 11245571
-
Etchevers HC, Vincent C, Le Douarin NM, Couly GF. The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain. Development. 2001;128:1059-68.
-
(2001)
Development
, vol.128
, pp. 1059-1068
-
-
Etchevers, H.C.1
Vincent, C.2
Le Douarin, N.M.3
Couly, G.F.4
-
122
-
-
33748964885
-
Neural crest stem and progenitor cells
-
1:CAS:528:DC%2BD28Xht1yjs7vE 16803431
-
Crane JF, Trainor P a. Neural crest stem and progenitor cells. Annu Rev Cell Dev Biol. 2006;22:267-86.
-
(2006)
Annu Rev Cell Dev Biol
, vol.22
, pp. 267-286
-
-
Crane, J.F.1
Trainor, P.A.2
-
123
-
-
78649900229
-
Factors controlling cardiac neural crest cell migration
-
20890117 3011257
-
Kirby ML, Hutson MR. Factors controlling cardiac neural crest cell migration. Cell Adh Migr. 2010;4:609-21.
-
(2010)
Cell Adh Migr
, vol.4
, pp. 609-621
-
-
Kirby, M.L.1
Hutson, M.R.2
-
124
-
-
84885042163
-
Embryonic heart progenitors and cardiogenesis
-
24086063 3784811
-
Brade T, Pane LS, Moretti A, Chien KR, Laugwitz K-L. Embryonic heart progenitors and cardiogenesis. Cold Spring Harb Perspect Med. 2013;3:a013847.
-
(2013)
Cold Spring Harb Perspect Med
, vol.3
, pp. a013847
-
-
Brade, T.1
Pane, L.S.2
Moretti, A.3
Chien, K.R.4
Laugwitz, K.-L.5
-
125
-
-
84902424526
-
The Cardiac Neural Crest Cells: Evolution, Development and Disease, 1st edition
-
Crest and Their Role in Development and Disease.
-
Vincentz, JW, Firulli AB. The Cardiac Neural Crest and Their Role in Development and Disease. In: Neural Crest Cells: Evolution, Development and Disease, 1st edition. London: Elsevier inc.; 2014.
-
(2014)
London: Elsevier inc.
-
-
Vincentz, J.W.1
Firulli, A.B.2
-
126
-
-
84890067507
-
The role of the non-canonical Wnt-planar cell polarity pathway in neural crest migration
-
1:CAS:528:DC%2BC3sXhvFSltbbK 24325550
-
Mayor R, Theveneau E. The role of the non-canonical Wnt-planar cell polarity pathway in neural crest migration. Biochem J. 2014;457:19-26.
-
(2014)
Biochem J
, vol.457
, pp. 19-26
-
-
Mayor, R.1
Theveneau, E.2
-
127
-
-
33847321958
-
Development of the cardiac conduction system
-
1:CAS:528:DC%2BD2sXitl2is78%3D 17289407
-
Mikawa T, Hurtado R. Development of the cardiac conduction system. Semin Cell Dev Biol. 2007;18:90-100.
-
(2007)
Semin Cell Dev Biol
, vol.18
, pp. 90-100
-
-
Mikawa, T.1
Hurtado, R.2
-
128
-
-
80051554264
-
Spinal muscular atrophy: a timely review
-
21482919
-
Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011;68:979-84.
-
(2011)
Arch Neurol
, vol.68
, pp. 979-984
-
-
Kolb, S.J.1
Kissel, J.T.2
-
129
-
-
58849087509
-
Ramblings in the history of spinal muscular atrophy
-
18951794
-
Dubowitz V. Ramblings in the history of spinal muscular atrophy. Neuromuscul Disord. 2009;19:69-73.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 69-73
-
-
Dubowitz, V.1
|