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Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.
Published in:
Human Genetics, 2011, v. 129, n. 2, p. 149, doi. 10.1007/s00439-010-0909-1
By:
- Granger, B.;
- Gueneau, L.;
- Drouin-Garraud, V.;
- Pedergnana, V.;
- Gagnon, F.;
- Ben Yaou, R.;
- Tezenas du Montcel, S.;
- Bonne, G.
Publication type:
Article
P330 Overexpression of the muscle specific chaperone Melusin delays heart failure and mortality in a mouse model of Emery Dreyfus cardiomyopathy.
Published in:
Cardiovascular Research, 2014, v. 103, n. suppl_1, p. S60, doi. 10.1093/cvr/cvu091.17
By:
- Tarone, G;
- Cimino, J;
- Rubinetto, C;
- Moiso, E;
- Cristofani, F;
- Zentilin, L;
- Giacca, M;
- Bonne, G;
- Brancaccio, M
Publication type:
Article
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
Published in:
Neuropathology & Applied Neurobiology, 2001, v. 27, n. 4, p. 281, doi. 10.1046/j.0305-1846.2001.00323.x
By:
- Sewry, C. A.;
- Brown, S. C.;
- Mercuri, E.;
- Bonne, G.;
- Feng, L.;
- Camici, G.;
- Morris, G. E.;
- Muntoni, F.
Publication type:
Article
Inorganic chlorine partitioning in the summer lower stratosphere: Modeled and measured [ClONO2]/[HCl] during POLARIS.
Published in:
Journal of Geophysical Research. Atmospheres, 2001, v. 106, n. D2, p. 1713, doi. 10.1029/2000JD900494
By:
- Voss, P. B.;
- Stimpfle, R. M.;
- Cohen, R. C.;
- Hanisco, T. F.;
- Bonne, G. P.;
- Perkins, K. K.;
- Lanzendorf, E. J.;
- Anderson, J. G.;
- Salawitch, R. J.;
- Webster, C. R.;
- Scott, D. C.;
- May, R. D.;
- Wennberg, P. O.;
- Newman, P. A.;
- Lait, L. R.;
- Elkins, J. W.;
- Bui, T. P.
Publication type:
Article
Quantitative constraints on the atmospheric chemistry of nitrogen oxides: An analysis along chemical coordinates.
Published in:
Journal of Geophysical Research. Atmospheres, 2000, v. 105, n. D19, p. 24283, doi. 10.1029/2000JD900290
By:
- Cohen, R. C.;
- Perkins, K. K.;
- Koch, L. C.;
- Stimpfle, R. M.;
- Wennberg, P. O.;
- Hanisco, T. F.;
- Lanzendorf, E. J.;
- Bonne, G. P.;
- Voss, P. B.;
- Salawitch, R. J.;
- Del Negro, L. A.;
- Wilson, J. C.;
- McElroy, C. T.;
- Bui, T. P.
Publication type:
Article
An examination of the inorganic chlorine budget in the lower stratosphere.
Published in:
Journal of Geophysical Research. Atmospheres, 2000, v. 105, n. D2, p. 1957, doi. 10.1029/1999JD900996
By:
- Bonne, G. P.;
- Stimpfle, R. M.;
- Cohen, R. C.;
- Voss, P. B.;
- Perkins, K. K.;
- Anderson, J. G.;
- Salawitch, R. J.;
- Elkins, J. W.;
- Dutton, G. S.;
- Jucks, K. W.;
- Toon, G. C.
Publication type:
Article
The budget and partitioning of stratospheric chlorine during the 1997 Arctic summer.
Published in:
Journal of Geophysical Research. Atmospheres, 1999, v. 104, n. D21, p. 26653, doi. 10.1029/1999JD900245
By:
- Sen, B.;
- Osterman, G. B.;
- Salawitch, R. J.;
- Toon, G. C.;
- Margitan, J. J.;
- Blavier, J.-F.;
- Chang, A. Y.;
- May, R. D.;
- Webster, C. R.;
- Stimpfle, R. M.;
- Bonne, G. P.;
- Voss, P. B.;
- Perkins, K. K.;
- Anderson, J. G.;
- Cohen, R. C.;
- Elkins, J. W.;
- Dutton, G. S.;
- Hurst, D. F.;
- Romashkin, P. A.;
- Atlas, E. L.
Publication type:
Article
The coupling of ClONO2, ClO, and NO2 in the lower stratosphere from in situ observations using the NASA ER-2 aircraft.
Published in:
Journal of Geophysical Research. Atmospheres, 1999, v. 104, n. D21, p. 26705, doi. 10.1029/1999JD900288
By:
- Stimpfle, R. M.;
- Cohen, R. C.;
- Bonne, G. P.;
- Voss, P. B.;
- Perkins, K. K.;
- Koch, L. C.;
- Anderson, J. G.;
- Salawitch, R. J.;
- Lloyd, S. A.;
- Gao, R. S.;
- Del Negro, L. A.;
- Keim, E. R.;
- Bui, T. P.
Publication type:
Article
Comparison of MkIV balloon and ER-2 aircraft measurements of atmospheric trace gases.
Published in:
Journal of Geophysical Research. Atmospheres, 1999, v. 104, n. D21, p. 26779, doi. 10.1029/1999JD900379
By:
- Toon, G. C.;
- Blavier, J.-F.;
- Sen, B.;
- Margitan, J. J.;
- Webster, C. R.;
- May, R. D.;
- Fahey, D.;
- Gao, R.;
- Del Negro, L.;
- Proffitt, M.;
- Elkins, J.;
- Romashkin, P. A.;
- Hurst, D. F.;
- Oltmans, S.;
- Atlas, E.;
- Schauffler, S.;
- Flocke, F.;
- Bui, T. P.;
- Stimpfle, R. M.;
- Bonne, G. P.
Publication type:
Article
Comparison of modeled and observed values of NO2 and JNO2 during the Photochemistry of Ozone Loss in the Arctic Region in Summer (POLARIS) mission.
Published in:
Journal of Geophysical Research. Atmospheres, 1999, v. 104, n. D21, p. 26687, doi. 10.1029/1999JD900246
By:
- Del Negro, L. A.;
- Fahey, D. W.;
- Gao, R. S.;
- Donnelly, S. G.;
- Keim, E. R.;
- Neuman, J. A.;
- Cohen, R. C.;
- Perkins, K. K.;
- Koch, L. C.;
- Salawitch, R. J.;
- Lloyd, S. A.;
- Proffitt, M. H.;
- Margitan, J. J.;
- Stimpfle, R. M.;
- Bonne, G. P.;
- Voss, P. B.;
- Wennberg, P. O.;
- McElroy, C. T.;
- Swartz, W. H.;
- Kusterer, T. L.
Publication type:
Article
Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in genotyped children.
Published in:
European Heart Journal, 1998, v. 19, n. 9, p. 1377, doi. 10.1053/euhj.1998.1049
By:
- Charron, Ph.;
- Dubourg, O.;
- Desnos, M.;
- Bouhour, J-B.;
- Isnard, R.;
- Hagege, A.;
- Carrier, L.;
- Bonne, G.;
- Tesson, F.;
- Richard, P.;
- Hainque, B.;
- Schwartz, K.;
- Komajda, M.
Publication type:
Article
Familial hypertrophic cardiomyopathy. Cardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy.
Published in:
European Heart Journal, 1998, v. 19, n. 3, p. 490
By:
- Hagège, A.A.;
- Dubourg, O.;
- Desnos, M.;
- Mirochnik, R.;
- Isnard, G.;
- Bonne, G.;
- Carrier, L.;
- Guicheney, P.;
- Bouhour, J-B.;
- Schwartz, K.;
- Komajda, M.
Publication type:
Article
Genotype–phenotype correlations in familial hypertrophic cardiomyopathy.
Published in:
European Heart Journal, 1998, v. 19, n. 1, p. 139, doi. 10.1053/euhj.1997.0575
By:
- Charron, P.;
- Dubourg, O;
- Desnos, M.;
- Isnard, R.;
- Hagege, A.;
- Bonne, G;
- Carrier, L.;
- Tesson, F.;
- Bouhour, J.B.;
- Buzzi, J.- C.;
- Feingold, J.;
- Schwartz, K.;
- Komajda, M.
Publication type:
Article
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Published in:
2006
By:
- Muntoni F;
- Bonne G;
- Goldfarb LG;
- Mercuri E;
- Piercy RJ;
- Burke M;
- Yaou RB;
- Richard P;
- Récan D;
- Shatunov A;
- Sewry CA;
- Brown SC
Publication type:
Journal Article
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Published in:
Brain: A Journal of Neurology, 2006, v. 129, n. 5, p. 1260, doi. 10.1093/brain/awl062
By:
- F. Muntoni;
- G. Bonne;
- L. G. Goldfarb;
- E. Mercuri;
- R. J. Piercy;
- M. Burke;
- R. Ben Yaou;
- P. Richard;
- D. Récan;
- A. Shatunov;
- C. A. Sewry;
- S. C. Brown
Publication type:
Article
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Published in:
Brain: A Journal of Neurology, 2006, v. 129, n. 5, p. 1260, doi. 10.1093/brain/awl062
By:
- F. Muntoni;
- G. Bonne;
- L. G. Goldfarb;
- E. Mercuri;
- R. J. Piercy;
- M. Burke;
- R. Ben Yaou;
- P. Richard;
- D. Récan;
- A. Shatunov;
- C. A. Sewry;
- S. C. Brown
Publication type:
Article
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
Published in:
European Journal of Neurology, 2018, v. 25, n. 5, p. 790, doi. 10.1111/ene.13598
By:
- Jonson, P. H.;
- Palmio, J.;
- Johari, M.;
- Penttil#228;, S.;
- Evil#228;, A.;
- Nelson, I.;
- Bonne, G.;
- Wiart, N.;
- Meyer, V.;
- Boland, A.;
- Deleuze, J.-F.;
- Masson, C.;
- Stojkovic, T.;
- Chapon, F.;
- Romero, N. B.;
- Sol#233;, G.;
- Ferrer, X.;
- Ferreiro, A.;
- Hackman, P.;
- Richard, I.
Publication type:
Article
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Published in:
Annals of Neurology, 2000, v. 48, n. 2, p. 170, doi. 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J
By:
- Bonne, G.;
- Mercuri, E.;
- Muchir, A.;
- Urtizberea, A.;
- Bécane, H. M.;
- Recan, D.;
- Merlini, L.;
- Wehnert, M.;
- Boor, R.;
- Reuner, U.;
- Vorgerd, M.;
- Wicklein, E. M.;
- Eymard, B.;
- Duboc, D.;
- Penisson-Besnier, I.;
- Cuisset, J. M.;
- Ferrer, X.;
- Desguerre, I.;
- Lacombe, D.;
- Bushby, K.
Publication type:
Article
Zidovudine myopathy: A distinctive disorder associated with mitochondrial dysfunction.
Published in:
Annals of Neurology, 1991, v. 29, n. 6, p. 606, doi. 10.1002/ana.410290607
By:
- Mhiri, C.;
- Baudrimont, M.;
- Bonne, G.;
- Geny, C.;
- Degoul, F.;
- Marsac, C.;
- Roullet, E.;
- Gherardi, R.
Publication type:
Article
151 Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation
Published in:
2004
By:
- Forissier, J.F.;
- Bouchier, C.;
- Bonne, G.;
- Duboscq-Bidot, L.;
- Richard, P.;
- Briault, S.;
- Moraine, C.;
- Dubourg, O.;
- Schwartz, K.;
- Komajda, M.
Publication type:
Abstract
66 Echocardiographic assessment of left ventricular function in mouse model of Emery-Dreifuss muscular dystrophy carrying a LMNA mutation
Published in:
2004
By:
- Varnous, S.;
- Helbling-Leclerc, A.;
- Massart, C.;
- Niel, F.;
- Arimura, T.;
- Keller, D.;
- Mura, A.M.;
- Malissen, M.;
- Isnard, R.;
- Bonne, G.
Publication type:
Abstract

Found: 21

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.

P330 Overexpression of the muscle specific chaperone Melusin delays heart failure and mortality in a mouse model of Emery Dreyfus cardiomyopathy.

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.

Inorganic chlorine partitioning in the summer lower stratosphere: Modeled and measured [ClONO<sub>2</sub>]/[HCl] during POLARIS.

Quantitative constraints on the atmospheric chemistry of nitrogen oxides: An analysis along chemical coordinates.

An examination of the inorganic chlorine budget in the lower stratosphere.

The budget and partitioning of stratospheric chlorine during the 1997 Arctic summer.

The coupling of ClONO<sub>2</sub>, ClO, and NO<sub>2</sub> in the lower stratosphere from in situ observations using the NASA ER-2 aircraft.

Comparison of MkIV balloon and ER-2 aircraft measurements of atmospheric trace gases.

Comparison of modeled and observed values of NO<sub>2</sub> and JNO<sub>2</sub> during the Photochemistry of Ozone Loss in the Arctic Region in Summer (POLARIS) mission.

Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in genotyped children.

Familial hypertrophic cardiomyopathy. Cardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy.

Genotype–phenotype correlations in familial hypertrophic cardiomyopathy.

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Zidovudine myopathy: A distinctive disorder associated with mitochondrial dysfunction.

151 Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation

66 Echocardiographic assessment of left ventricular function in mouse model of Emery-Dreifuss muscular dystrophy carrying a LMNA mutation