-
1
-
-
0033915684
-
Familial systemic lupus erythematosus and congenital infection-like syndrome
-
COI: 1:STN:280:DC%2BD3M%2Fotlaltg%3D%3D, PID: 10963105
-
Dale RC, Tang SP, Heckmatt JZ, Tatnall FM. Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics. 2000;31:155–8.
-
(2000)
Neuropediatrics
, vol.31
, pp. 155-158
-
-
Dale, R.C.1
Tang, S.P.2
Heckmatt, J.Z.3
Tatnall, F.M.4
-
2
-
-
0021336060
-
A progressive familial encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
-
COI: 1:STN:280:DyaL2c7nslaktw%3D%3D, PID: 6712192
-
Aicardi J, Goutières F. A progressive familial encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984;15:49–54.
-
(1984)
Ann Neurol
, vol.15
, pp. 49-54
-
-
Aicardi, J.1
Goutières, F.2
-
3
-
-
84921417123
-
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
-
COI: 1:CAS:528:DC%2BC2MXhsV2hu7k%3D
-
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015;167:296–312.
-
(2015)
Am J Med Genet A
, vol.167
, pp. 296-312
-
-
Crow, Y.J.1
Chase, D.S.2
Lowenstein Schmidt, J.3
Szynkiewicz, M.4
Forte, G.M.5
Gornall, H.L.6
-
4
-
-
77951737544
-
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome
-
COI: 1:CAS:528:DC%2BC3cXhtFGnu7bL, PID: 20131292
-
Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum. 2010;62(5):1469–77.
-
(2010)
Arthritis Rheum
, vol.62
, Issue.5
, pp. 1469-1477
-
-
Ramantani, G.1
Kohlhase, J.2
Hertzberg, C.3
Innes, A.M.4
Engel, K.5
Hunger, S.6
-
5
-
-
84881021395
-
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?
-
COI: 1:CAS:528:DC%2BC38XhvFSntrnL, PID: 22940555
-
Fazzi E, Cattalini M, Orcesi S, Tincani A, Andreoli L, Balottin U, et al. Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? Autoimmun Rev. 2013;12(4):506–9.
-
(2013)
Autoimmun Rev
, vol.12
, Issue.4
, pp. 506-509
-
-
Fazzi, E.1
Cattalini, M.2
Orcesi, S.3
Tincani, A.4
Andreoli, L.5
Balottin, U.6
-
6
-
-
0030988386
-
Development and validation of a gross motor function classification system for children with cerebral palsy
-
COI: 1:STN:280:DyaK2szis1CgtQ%3D%3D, PID: 9183258
-
Palisano R, Rosenbaum P, Walter S, Russell D, Wood E, Galuppi B. Development and validation of a gross motor function classification system for children with cerebral palsy. Dev Med Child Neurol. 1997;39:214–23.
-
(1997)
Dev Med Child Neurol
, vol.39
, pp. 214-223
-
-
Palisano, R.1
Rosenbaum, P.2
Walter, S.3
Russell, D.4
Wood, E.5
Galuppi, B.6
-
7
-
-
33745282965
-
The Manual Ability Classification System (MACS) for children with cerebral palsy: scale development and evidence of validity and reliability
-
PID: 16780622
-
Eliasson AC, Krumlinde-Sundholm L, Rösblad B, Beckung E, Arner M, Ohrvall AM, et al. The Manual Ability Classification System (MACS) for children with cerebral palsy: scale development and evidence of validity and reliability. Dev Med Child Neurol. 2006;48:549–54.
-
(2006)
Dev Med Child Neurol
, vol.48
, pp. 549-554
-
-
Eliasson, A.C.1
Krumlinde-Sundholm, L.2
Rösblad, B.3
Beckung, E.4
Arner, M.5
Ohrvall, A.M.6
-
8
-
-
79960085646
-
Developing and validating the communication function classification system for individuals with cerebral palsy
-
PID: 21707596
-
Hidecker MJ, Paneth N, Rosenbaum PL, Kent RD, Lillie J, Eulenberg JB, et al. Developing and validating the communication function classification system for individuals with cerebral palsy. Dev Med Child Neurol. 2011;53:704–10.
-
(2011)
Dev Med Child Neurol
, vol.53
, pp. 704-710
-
-
Hidecker, M.J.1
Paneth, N.2
Rosenbaum, P.L.3
Kent, R.D.4
Lillie, J.5
Eulenberg, J.B.6
-
9
-
-
0014690947
-
Measurement of serum DNA-binding activity in systemic lupus erythematosus
-
COI: 1:STN:280:DyaF1M3psFOisg%3D%3D
-
Pincus T, Schur PH, Rose JA, Decker JL, Talal N. Measurement of serum DNA-binding activity in systemic lupus erythematosus. N Eng J Med. 1969;281:701–5.
-
(1969)
N Eng J Med
, vol.281
, pp. 701-705
-
-
Pincus, T.1
Schur, P.H.2
Rose, J.A.3
Decker, J.L.4
Talal, N.5
-
10
-
-
0034903945
-
Anticardiolipin antibody assay: a methodological analysis for a better consensus in routine determination—an operative project of the European Antiphospholipid Forum
-
COI: 1:CAS:528:DC%2BD3MXmt1SltL8%3D, PID: 11522006
-
Tincani A, Allegri F, Sanmarco M, Cinquini M, Taglietti M, Balestrieri G, et al. Anticardiolipin antibody assay: a methodological analysis for a better consensus in routine determination—an operative project of the European Antiphospholipid Forum. Thromb Haemost. 2001;86:575–83.
-
(2001)
Thromb Haemost
, vol.86
, pp. 575-583
-
-
Tincani, A.1
Allegri, F.2
Sanmarco, M.3
Cinquini, M.4
Taglietti, M.5
Balestrieri, G.6
-
11
-
-
35349019691
-
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
-
COI: 1:CAS:528:DC%2BD2sXhtFSktrvP, PID: 17846997
-
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007;81(4):713–25.
-
(2007)
Am J Hum Genet
, vol.81
, Issue.4
, pp. 713-725
-
-
Rice, G.1
Patrick, T.2
Parmar, R.3
Taylor, C.F.4
Aeby, A.5
Aicardi, J.6
-
12
-
-
84887607415
-
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case–control study
-
COI: 1:CAS:528:DC%2BC3sXhslWlsb3L, PID: 24183309
-
Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case–control study. Lancet Neurol. 2013;12(12):1159–69.
-
(2013)
Lancet Neurol
, vol.12
, Issue.12
, pp. 1159-1169
-
-
Rice, G.I.1
Forte, G.M.2
Szynkiewicz, M.3
Chase, D.S.4
Aeby, A.5
Abdel-Hamid, M.S.6
-
13
-
-
82555192885
-
Type I, interferonopathies: a novel set of inborn errors of immunity
-
COI: 1:CAS:528:DC%2BC38Xhsl2jtbs%3D, PID: 22129056
-
Crow YJ. Type I, interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci. 2011;1238:91–8.
-
(2011)
Ann N Y Acad Sci
, vol.1238
, pp. 91-98
-
-
Crow, Y.J.1
-
14
-
-
31544481206
-
Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutieres syndrome
-
PID: 16429382
-
De Laet C, Goyens P, Christophe C, Ferster A, Mascart F, Dan B. Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutieres syndrome. Neuropediatrics. 2005;36:399–402.
-
(2005)
Neuropediatrics
, vol.36
, pp. 399-402
-
-
De Laet, C.1
Goyens, P.2
Christophe, C.3
Ferster, A.4
Mascart, F.5
Dan, B.6
-
15
-
-
18444387671
-
Cerebral thrombotic microangiopaty and antiphospholipid antibodies in Aicardi-Goutieres syndrome—report of two sisters
-
COI: 1:STN:280:DC%2BD2M7ktlKkug%3D%3D, PID: 15776321
-
Rasmussen M, Skullerud K, Bakke SJ, Lebon P, Jahnsen FL. Cerebral thrombotic microangiopaty and antiphospholipid antibodies in Aicardi-Goutieres syndrome—report of two sisters. Neuropediatrics. 2005;36:40–4.
-
(2005)
Neuropediatrics
, vol.36
, pp. 40-44
-
-
Rasmussen, M.1
Skullerud, K.2
Bakke, S.J.3
Lebon, P.4
Jahnsen, F.L.5
-
16
-
-
77950396519
-
Familial Aicardi-Goutieres Syndrome due to SAMHD1 mutations is associated with chronic arthropaty and contractures
-
PID: 20358604
-
Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ. Familial Aicardi-Goutieres Syndrome due to SAMHD1 mutations is associated with chronic arthropaty and contractures. Am J Med Genet A. 2010;152A:938–42.
-
(2010)
Am J Med Genet A
, vol.152A
, pp. 938-942
-
-
Dale, R.C.1
Gornall, H.2
Singh-Grewal, D.3
Alcausin, M.4
Rice, G.I.5
Crow, Y.J.6
-
17
-
-
84942855451
-
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies
-
COI: 1:CAS:528:DC%2BC28XhtVKlsr3M, PID: 24906636
-
Cuadrado E, Vanderver A, Brown KJ, Sandza A, Takanohashi A, Jansen MH, et al. Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies. Ann Rheum Dis. 2015;74(10):1931–9.
-
(2015)
Ann Rheum Dis
, vol.74
, Issue.10
, pp. 1931-1939
-
-
Cuadrado, E.1
Vanderver, A.2
Brown, K.J.3
Sandza, A.4
Takanohashi, A.5
Jansen, M.H.6
-
18
-
-
84922880395
-
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
-
COI: 1:CAS:528:DC%2BC2cXhvVemtrjP, PID: 25307056
-
Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, et al. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature. 2015;517(7532):89–93.
-
(2015)
Nature
, vol.517
, Issue.7532
, pp. 89-93
-
-
Zhang, X.1
Bogunovic, D.2
Payelle-Brogard, B.3
Francois-Newton, V.4
Speer, S.D.5
Yuan, C.6
-
19
-
-
84882989850
-
Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient
-
COI: 1:STN:280:DC%2BC3sfmvFyitw%3D%3D, PID: 23918923
-
Olivieri I, Cattalini M, Tonduti D, La Piana R, Uggetti C, Galli J, et al. Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient. Lupus. 2013;22(10):1064–9.
-
(2013)
Lupus
, vol.22
, Issue.10
, pp. 1064-1069
-
-
Olivieri, I.1
Cattalini, M.2
Tonduti, D.3
La Piana, R.4
Uggetti, C.5
Galli, J.6
-
20
-
-
77951440735
-
Type I interferon therapy and its role in autoimmunity
-
Biggioggero M, Gabbriellini L, Meroni PL. Type I interferon therapy and its role in autoimmunity. Autoimmunity. 2010;43(3):284–54.
-
(2010)
Autoimmunity
, vol.43
, Issue.3
, pp. 254-284
-
-
Biggioggero, M.1
Gabbriellini, L.2
Meroni, P.L.3
-
21
-
-
38049072128
-
Antinucleosome antibodies in primary antiphospholipid syndrome: a hint at systemic autoimmunity?
-
COI: 1:CAS:528:DC%2BD1cXlvFSjtQ%3D%3D
-
Andreoli L, Pregnolato F, Burlingame RW, Allegri F, Rizzini S, Fanelli V, et al. Antinucleosome antibodies in primary antiphospholipid syndrome: a hint at systemic autoimmunity? J Autoimm. 2008;30(1–2):51–7.
-
(2008)
J Autoimm
, vol.30
, Issue.1-2
, pp. 51-57
-
-
Andreoli, L.1
Pregnolato, F.2
Burlingame, R.W.3
Allegri, F.4
Rizzini, S.5
Fanelli, V.6
-
22
-
-
84871396684
-
Family history of autoimmune disease in patients with Aicardi-Goutières syndrome
-
PID: 23251212
-
Schmidt JL, Olivieri I, Vento JM, Fazzi E, Gordish-Dressman H, Orcesi S, et al. Family history of autoimmune disease in patients with Aicardi-Goutières syndrome. Clin Dev Immunol. 2012;2012:206730.
-
(2012)
Clin Dev Immunol
, vol.2012
, pp. 206730
-
-
Schmidt, J.L.1
Olivieri, I.2
Vento, J.M.3
Fazzi, E.4
Gordish-Dressman, H.5
Orcesi, S.6
-
23
-
-
34548327158
-
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus
-
COI: 1:CAS:528:DC%2BD2sXps12gtLg%3D, PID: 17660818
-
Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 2007;39(9):1065–7.
-
(2007)
Nat Genet
, vol.39
, Issue.9
, pp. 1065-1067
-
-
Lee-Kirsch, M.A.1
Gong, M.2
Chowdhury, D.3
Senenko, L.4
Engel, K.5
Lee, Y.A.6
-
24
-
-
84920413492
-
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity
-
PID: 25500883
-
Günther C, Kind B, Reijns MA, Berndt N, Martinez-Bueno M, Wolf C, et al. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J Clin Invest. 2015;125(1):413.
-
(2015)
J Clin Invest
, vol.125
, Issue.1
, pp. 413
-
-
Günther, C.1
Kind, B.2
Reijns, M.A.3
Berndt, N.4
Martinez-Bueno, M.5
Wolf, C.6
-
25
-
-
84905825645
-
Activated STING in a vascular and pulmonary syndrome
-
PID: 25029335
-
Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371(6):507–18.
-
(2014)
N Engl J Med
, vol.371
, Issue.6
, pp. 507-518
-
-
Liu, Y.1
Jesus, A.A.2
Marrero, B.3
Yang, D.4
Ramsey, S.E.5
Montealegre Sanchez, G.A.6
-
26
-
-
84915745085
-
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
-
PID: 25401470
-
Jeremiah N, Neven B, Gentili M, Callebaut I, Maschalidi S, Stolzenberg MC, et al. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest. 2014;124(12):5516–20.
-
(2014)
J Clin Invest
, vol.124
, Issue.12
, pp. 5516-5520
-
-
Jeremiah, N.1
Neven, B.2
Gentili, M.3
Callebaut, I.4
Maschalidi, S.5
Stolzenberg, M.C.6
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