-
1
-
-
33845269544
-
Hutchinson-Gilford progeria syndrome: Review of the phenotype
-
DOI 10.1002/ajmg.a.31346
-
Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A 2006;140:2603-24 (Pubitemid 44865091)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.23
, pp. 2603-2624
-
-
Hennekam, R.C.M.1
-
2
-
-
0037673950
-
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
-
DOI 10.1038/nature01629
-
Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003;423:293-98 (Pubitemid 40852699)
-
(2003)
Nature
, vol.423
, Issue.6937
, pp. 293-298
-
-
Eriksson, M.1
Brown, W.T.2
Gordon, L.B.3
Glynn, M.W.4
Singer, J.5
Scott, L.6
Erdos, M.R.7
Robbins, C.M.8
Moses, T.Y.9
Berglund, P.10
Dutra, A.11
Pak, E.12
Durkin, S.13
Csoka, A.B.14
Boehnke, M.15
Glover, T.W.16
Collins, F.S.17
-
3
-
-
10744229294
-
Lamin A truncation in Hutchinson-Gilford progeria
-
DOI 10.1126/science.1084125
-
De Sandre-Giovannoli A, Bernard R, Cau P, et al. Lamin A truncation in Hutchinson-Gilford progeria. Science 2003;300:2055 (Pubitemid 36760124)
-
(2003)
Science
, vol.300
, Issue.5628
, pp. 2055
-
-
De Sandre-Giovannoli, A.1
Bernard, R.2
Cau, P.3
Navarro, C.4
Amiel, J.5
Boccaccio, I.6
Lyonnet, S.7
Stewart, C.L.8
Munnich, A.9
Le, M.M.10
Levy, N.11
-
4
-
-
2942643923
-
Accumulation of mutant lamin A progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome
-
DOI 10.1073/pnas.0402943101
-
Goldman RD, Shumaker DK, Erdos MR, et al. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A 2004;101:8963-68 (Pubitemid 38781594)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.24
, pp. 8963-8968
-
-
Goldman, R.D.1
Shumaker, D.K.2
Erdos, M.R.3
Eriksson, M.4
Goldman, A.E.5
Gordon, L.B.6
Gruenbaum, Y.7
Khuon, S.8
Mendez, M.9
Varga, R.10
Collins, F.S.11
-
5
-
-
33644770201
-
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome
-
DOI 10.1073/pnas.0600012103
-
Varga R, Eriksson M, Erdos MR, et al. Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A 2006;103:3250-55 (Pubitemid 43346456)
-
(2006)
Proceedings of the National Academy of Sciences of the United States of America
, vol.103
, Issue.9
, pp. 3250-3255
-
-
Varga, R.1
Eriksson, M.2
Erdos, M.R.3
Olive, M.4
Harten, I.5
Kolodgie, F.6
Capell, B.C.7
Cheng, J.8
Faddah, D.9
Perkins, S.10
Avallone, H.11
San, H.12
Qu, X.13
Ganesh, S.14
Gordon, L.B.15
Virmani, R.16
Wight, T.N.17
Nabel, E.G.18
Collins, F.S.19
-
6
-
-
78149283243
-
Cardiovascular pathology in Hutchinson-Gilford progeria: Correlation with the vascular pathology of aging
-
Olive M, Harten I, Mitchell R, et al. Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging. Arterioscler Thromb Vasc Biol 2010;30:2301-09
-
(2010)
Arterioscler Thromb Vasc Biol
, vol.30
, pp. 2301-2309
-
-
Olive, M.1
Harten, I.2
Mitchell, R.3
-
7
-
-
84860881360
-
Human longevity and common variations in the LMNA gene: A meta-analysis
-
Conneely KN, Capell BC, Erdos MR, et al. Human longevity and common variations in the LMNA gene: a meta-analysis. Aging Cell 2012;11:475-81
-
(2012)
Aging Cell
, vol.11
, pp. 475-481
-
-
Conneely, K.N.1
Capell, B.C.2
Erdos, M.R.3
-
8
-
-
35148898709
-
New approaches to Progeria
-
DOI 10.1542/peds.2007-1356
-
Kieran MW, Gordon L, Kleinman M. New approaches to progeria. Pediatrics 2007;120:834-41 (Pubitemid 47549572)
-
(2007)
Pediatrics
, vol.120
, Issue.4
, pp. 834-841
-
-
Kieran, M.W.1
Gordon, L.2
Kleinman, M.3
-
9
-
-
38949105879
-
Phenotype and course of Hutchinson-Gilford progeria syndrome
-
DOI 10.1056/NEJMoa0706898
-
Merideth MA, Gordon LB, Clauss S, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 2008;358:592-604 (Pubitemid 351214286)
-
(2008)
New England Journal of Medicine
, vol.358
, Issue.6
, pp. 592-604
-
-
Merideth, M.A.1
Gordon, L.B.2
Clauss, S.3
Sachdev, V.4
Smith, A.C.M.5
Perry, M.B.6
Brewer, C.C.7
Zalewski, C.8
Kim, H.J.9
Solomon, B.10
Brooks, B.P.11
Gerber, L.H.12
Turner, M.L.13
Domingo, D.L.14
Hart, T.C.15
Graf, J.16
Reynolds, J.C.17
Gropman, A.18
Yanovski, J.A.19
Gerhard-Herman, M.20
Collins, F.S.21
Nabel, E.G.22
Cannon III, R.O.23
Gahl, W.A.24
Introne, W.J.25
more..
-
10
-
-
83655167073
-
Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome
-
Gerhard-Herman M, Smoot LB, Wake N, et al. Mechanisms of premature vascular aging in children with Hutchinson-Gilford progeria syndrome. Hypertension 2012;59:92-97
-
(2012)
Hypertension
, vol.59
, pp. 92-97
-
-
Gerhard-Herman, M.1
Smoot, L.B.2
Wake, N.3
-
11
-
-
0000721663
-
Cardiovascular manifestations in progeria: Report of clinical and pathologic findings in a patient with severe arteriosclerotic heart disease and aortic stenosis
-
Makous N, Friedman S, Yakovac W, et al. Cardiovascular manifestations in progeria: report of clinical and pathologic findings in a patient with severe arteriosclerotic heart disease and aortic stenosis. Am Heart J 1962;64:334-46
-
(1962)
Am Heart J
, vol.64
, pp. 334-346
-
-
Makous, N.1
Friedman, S.2
Yakovac, W.3
-
13
-
-
0001623491
-
Progeria: Report of a case with post-mortem findings
-
Atkins L. Progeria: report of a case with post-mortem findings. N Engl J Med 1954;250:1065-69
-
(1954)
N Engl J Med
, vol.250
, pp. 1065-1069
-
-
Atkins, L.1
-
14
-
-
84866378791
-
Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome
-
Ullrich NJ, Silvera VM, Campbell SE, et al. Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome. AJNR Am J Neuroradiol 2012;33:1512-18
-
(2012)
AJNR Am J Neuroradiol
, vol.33
, pp. 1512-1518
-
-
Ullrich, N.J.1
Silvera, V.M.2
Campbell, S.E.3
-
15
-
-
34848882814
-
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes
-
DOI 10.1002/humu.20536
-
Moulson CL, Fong LG, Gardner JM, et al. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum Mutat 2007;28:882-89 (Pubitemid 47579938)
-
(2007)
Human Mutation
, vol.28
, Issue.9
, pp. 882-889
-
-
Moulson, C.L.1
Fong, L.G.2
Gardner, J.M.3
Farber, E.A.4
Go, G.5
Passariello, A.6
Grange, D.K.7
Young, S.G.8
Miner, J.H.9
-
16
-
-
0027092062
-
Cerebral infarction in progeria
-
DOI 10.1016/0887-8994(92)90014-P
-
Wagle WA, Haller JS, Cousins JP. Cerebral infarction in progeria. Pediatr Neurol 1992;8:476-77 (Pubitemid 23014426)
-
(1992)
Pediatric Neurology
, vol.8
, Issue.6
, pp. 476-477
-
-
Wagle, W.A.1
Haller, J.S.2
Cousins, J.P.3
-
17
-
-
0035030856
-
Progressive intracranial vascular disease with strokes and seizures in a boy with progeria
-
Rosman NP, Anselm I, Bhadelia RA. Progressive intracranial vascular disease with strokes and seizures in a boy with progeria. J Child Neurol 2001;16:212-15 (Pubitemid 32433240)
-
(2001)
Journal of Child Neurology
, vol.16
, Issue.3
, pp. 212-215
-
-
Rosman, N.P.1
Anselm, I.2
Bhadelia, R.A.3
-
18
-
-
0029592042
-
A case of progeria in a Saudi child presenting with cerebral infarction
-
Alghamdi SA. A case of progeria in a Saudi child presenting with cerebral infarction. Ann Saudi Med 1995;15:631-33 (Pubitemid 26014427)
-
(1995)
Annals of Saudi Medicine
, vol.15
, Issue.6
, pp. 631-633
-
-
Alghamdi, S.A.1
-
19
-
-
0027196789
-
MRA detection of vascular occlusion in a child with progeria
-
Smith AS, Wiznitzer M, Karaman BA, et al. MRA detection of vascular occlusion in a child with progeria. AJNR Am J Neuroradiol 1993;14:441-43 (Pubitemid 23130146)
-
(1993)
American Journal of Neuroradiology
, vol.14
, Issue.2
, pp. 441-443
-
-
Smith, A.S.1
Wiznitzer, M.2
Karaman, B.A.3
Horwitz, S.J.4
Lanzieri, C.F.5
-
20
-
-
33847133375
-
Anterior spinal artery as a collateral channel in cases of bilateral of vertebral arterial steno-occlusive diseases
-
Kang HS, Han MH, Kim SH, et al. Anterior spinal artery as a collateral channel in cases of bilateral vertebral arterial steno-occlusive diseases. AJNR Am J Neuroradiol 2007;28:222-25 (Pubitemid 46281035)
-
(2007)
American Journal of Neuroradiology
, vol.28
, Issue.2
, pp. 222-225
-
-
Kang, H.-S.1
Han, M.H.2
Kim, S.H.3
Kwon, O.-K.4
Roh, H.G.5
Ko, Y.C.6
-
21
-
-
1042288161
-
Anterior spinal artery supplying posterior circulation
-
Hott JS, Vishteh G, Wallace R, et al. Anterior spinal artery supplying posterior circulation. Neurology 2004;62:468 (Pubitemid 38200862)
-
(2004)
Neurology
, vol.62
, Issue.3
, pp. 468
-
-
Hott, J.S.1
Vishteh, G.2
Wallace, R.3
Dean, B.L.4
Spetzler, R.F.5
-
22
-
-
0037465445
-
Collateralization of vertebral arteries
-
Garnier P, Januel AC, Demasles S, et al. Collateralization of vertebral arteries. Neurology 2003;60:720 (Pubitemid 36246100)
-
(2003)
Neurology
, vol.60
, Issue.4
, pp. 720
-
-
Garnier, P.1
Januel, A.C.2
Demasles, S.3
Michel, D.4
-
23
-
-
0033841519
-
Segmental identity and vulnerability in cerebral arteries
-
Lasjaunias PL. Segmental identity and vulnerability in cerebral arteries. Interv Neuroradiol 2000;6:113-24 (Pubitemid 30654868)
-
(2000)
Interventional Neuroradiology
, vol.6
, Issue.2
, pp. 113-124
-
-
Lasjaunias, P.L.1
-
24
-
-
84867327389
-
Pediatric stroke: A review
-
Tsze DS, Valente JH. Pediatric stroke: a review. Emerg Med Int 2011; 2011:734506
-
(2011)
Emerg Med Int
, vol.2011
, pp. 734506
-
-
Tsze, D.S.1
Valente, J.H.2
-
25
-
-
0030937940
-
Pathogenesis of leukoaraiosis: A review
-
Pantoni L, Garcia JH. Pathogenesis of leukoaraiosis: a review. Stroke 1997;28:652-59 (Pubitemid 27118393)
-
(1997)
Stroke
, vol.28
, Issue.3
, pp. 652-659
-
-
Pantoni, L.1
Garcia, J.H.2
-
26
-
-
33846571428
-
Hemorrhagic Stroke in Children
-
DOI 10.1016/j.pediatrneurol.2006.09.017, PII S0887899406006254
-
Jordan LC, Hillis AE. Hemorrhagic stroke in children. Pediatr Neurol 2007;36:73-80 (Pubitemid 46176554)
-
(2007)
Pediatric Neurology
, vol.36
, Issue.2
, pp. 73-80
-
-
Jordan, L.C.1
Hillis, A.E.2
-
27
-
-
62749176396
-
Moyamoya disease and Moyamoya syndrome
-
Scott RM, Smith ER. Moyamoya disease and Moyamoya syndrome. N Engl J Med 2009;360:1226-37
-
(2009)
N Engl J Med
, vol.360
, pp. 1226-1237
-
-
Scott, R.M.1
Smith, E.R.2
|