-
1
-
-
33749045115
-
Lamin B1 duplications cause autosomal dominant leukodystrophy
-
Erratum in: Nat Genet 2007; 39 (2): 276
-
Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu YH (2006) Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet 38 (10): 1114-1123. Erratum in: Nat Genet 2007; 39 (2): 276
-
(2006)
Nat Genet
, vol.38
, Issue.10
, pp. 1114-1123
-
-
Padiath Qs, S.1
-
2
-
-
79951557689
-
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms
-
21225301 10.1007/s10048-010-0269-y 1:CAS:528:DC%2BC3MXht1yrs70%3D
-
Schuster J, Sundblom J, Thuresson AC, Hassin-Baer S, Klopstock T, Dichgans M, Cohen OS, Raininko R, Melberg A, Dahl N (2011) Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics 12(1):65-72
-
(2011)
Neurogenetics
, vol.12
, Issue.1
, pp. 65-72
-
-
Schuster, J.1
Sundblom, J.2
Thuresson, A.C.3
Hassin-Baer, S.4
Klopstock, T.5
Dichgans, M.6
Cohen, O.S.7
Raininko, R.8
Melberg, A.9
Dahl, N.10
-
3
-
-
55949135570
-
A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy
-
19001169 10.1001/archneur.65.11.1496
-
Meijer IA, Simoes-Lopes AA, Laurent S, Katz T, St-Onge J, Verlaan DJ, Dupré N, Thibault M, Mathurin J, Bouchard JP, Rouleau GA (2008) A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy. Arch Neurol 65(11):1496-1501
-
(2008)
Arch Neurol
, vol.65
, Issue.11
, pp. 1496-1501
-
-
Meijer, I.A.1
Simoes-Lopes, A.A.2
Laurent, S.3
Katz, T.4
St-Onge, J.5
Verlaan, D.J.6
Dupré, N.7
Thibault, M.8
Mathurin, J.9
Bouchard, J.P.10
Rouleau, G.A.11
-
4
-
-
69149102249
-
Mir-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination
-
19259393 10.1242/dmm.001065 1:CAS:528:DC%2BD1MXltVOktr0%3D
-
Lin ST, Fu YH (2009) mir-23regulation of lamin B1 is crucial for oligodendrocyte development and myelination. Dis Model Mech 2(3-4):178-188
-
(2009)
Dis Model Mech
, vol.2
, Issue.3-4
, pp. 178-188
-
-
Lin, S.T.1
Fu, Y.H.2
-
5
-
-
79251551942
-
Adult-onset autosomal dominant leukodystrophy: Linking nuclear envelope to myelin
-
21273400 10.1523/JNEUROSCI.5994-10.2011 1:CAS:528:DC%2BC3MXhslKlsLo%3D
-
Lin ST, Ptácek LJ, Fu YH (2011) Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin. J Neurosci 31(4):1163-1166
-
(2011)
J Neurosci
, vol.31
, Issue.4
, pp. 1163-1166
-
-
Lin, S.T.1
Ptácek, L.J.2
Fu, Y.H.3
-
6
-
-
0034701319
-
Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31
-
10749986 10.1093/hmg/9.5.787 1:CAS:528:DC%2BD3cXitlais7Y%3D
-
Coffeen CM, McKenna CE, Koeppen AH, Plaster NM, Maragakis N, Mihalopoulos J, Schwankhaus JD, Flanigan KM, Gregg RG, Ptácek LJ, Fu YH (2000) Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. Hum Mol Genet 9(5):787-793
-
(2000)
Hum Mol Genet
, vol.9
, Issue.5
, pp. 787-793
-
-
Coffeen, C.M.1
McKenna, C.E.2
Koeppen, A.H.3
Plaster, N.M.4
Maragakis, N.5
Mihalopoulos, J.6
Schwankhaus, J.D.7
Flanigan, K.M.8
Gregg, R.G.9
Ptácek, L.J.10
Fu, Y.H.11
-
7
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C (T)) Method
-
11846609 10.1006/meth.2001.1262 1:CAS:528:DC%2BD38XhtFelt7s%3D
-
Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C (T)) Method. Methods 25(4):402-408
-
(2001)
Methods
, vol.25
, Issue.4
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
8
-
-
60049084206
-
MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms
-
18945794 10.3174/ajnr.A1354 1:STN:280:DC%2BD1M7jtVCrsg%3D%3D
-
Sundblom J, Melberg A, Kalimo H, Smits A, Raininko R (2009) MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 30(2):328-335
-
(2009)
AJNR Am J Neuroradiol
, vol.30
, Issue.2
, pp. 328-335
-
-
Sundblom, J.1
Melberg, A.2
Kalimo, H.3
Smits, A.4
Raininko, R.5
-
9
-
-
78649906688
-
Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy
-
20719577 10.1016/j.autneu.2010.07.011
-
Guaraldi P, Donadio V, Capellari S, Contin M, Casadio MC, Montagna P, Liguori R, Cortelli P (2011) Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy. Auton Neurosci 159(1-2):123-126
-
(2011)
Auton Neurosci
, vol.159
, Issue.1-2
, pp. 123-126
-
-
Guaraldi, P.1
Donadio, V.2
Capellari, S.3
Contin, M.4
Casadio, M.C.5
Montagna, P.6
Liguori, R.7
Cortelli, P.8
-
10
-
-
33748051742
-
MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms
-
16611789 1:STN:280:DC%2BD283gsVGltQ%3D%3D
-
Melberg A, Hallberg L, Kalimo H, Raininko R (2006) MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 27(4):904-911
-
(2006)
AJNR Am J Neuroradiol
, vol.27
, Issue.4
, pp. 904-911
-
-
Melberg, A.1
Hallberg, L.2
Kalimo, H.3
Raininko, R.4
-
11
-
-
77949623995
-
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations
-
19961535 10.1111/j.1468-1331.2009.02844.x 1:STN:280: DC%2BC3czitlOmsw%3D%3D
-
Brussino A, Vaula G, Cagnoli C, Panza E, Seri M, Di Gregorio E, Scappaticci S, Camanini S, Daniele D, Bradac GB, Pinessi L, Cavalieri S, Grosso E, Migone N, Brusco A (2010) A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. Eur J Neurol 17(4):541-549
-
(2010)
Eur J Neurol
, vol.17
, Issue.4
, pp. 541-549
-
-
Brussino, A.1
Vaula, G.2
Cagnoli, C.3
Panza, E.4
Seri, M.5
Di Gregorio, E.6
Scappaticci, S.7
Camanini, S.8
Daniele, D.9
Bradac, G.B.10
Pinessi, L.11
Cavalieri, S.12
Grosso, E.13
Migone, N.14
Brusco, A.15
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