Orphanet Journal of Rare Diseases | Supplements | Proceedings of the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases

Orphanet Journal of Rare Diseases | Supplements | Proceedings of the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases

The following new supplement has just been published in Orphanet Journal of Rare Diseases

Volume 10 Suppl 2 (11 November 2015) Proceedings of the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases Meeting abstracts Marseille, France. 15-16 January 2015

Orphanet Journal of Rare Diseases publishes selected collections of research articles, conference proceedings, reviews and reports as supplements, which are free to access online. All articles published in supplements are subject to peer review; meeting abstracts undergo review and selection by the conference. Find out more about publishing a supplement with BioMed Central.

Volume 10 Supplement 2

Proceedings of the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases

Meeting abstracts

1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases

Marseille, France

15-16 January 2015

Publication charges for this supplement were funded by the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases.

Conference website

Introduction    An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases. Annachiara De Sandre-Giovannoli, Nicolas Levy, Rabah Ben Yaou, France Leturcq, Giovanna Lattanzi, Gisèle BonneOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):I1 (11 November 2015) Full text | PDF

Oral presentation    Molecular mechanisms of normal and pathological aging Carlos López-OtínOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O1 (11 November 2015) Full text | PDF

Oral presentation    Pluripotent stem cells for pathological modelling of Hutchinson-Gilford Progeria Syndrome (HGPS) and drug discovery Xavier NissanOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O2 (11 November 2015) Full text | PDF

Oral presentation    Development of a SMCs model from HGPS-iPS and proofs of principle Lino FerreiraOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O3 (11 November 2015) Full text | PDF

Oral presentation    3D culture system of muscle precursor cell to reveal mechanosensing defects in nuclear envelope related disorders Catherine CoiraultOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O4 (11 November 2015) Full text | PDF

Oral presentation    Prelamin accumulation in primary endothelial cells induces premature senescence and activation Nathalie Bonello-Palot, Catherine BadensOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O5 (11 November 2015) Full text | PDF

Oral presentation    Hypothalamic involvement in premature aging laminopathies Claudia CavadasOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O6 (11 November 2015) Full text | PDF

Oral presentation    Investigation of pathomechanisms of ventricular arrhythmias in cardiac laminopathies Antoine MuchirOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O7 (11 November 2015) Full text | PDF

Oral presentation    New therapeutic approaches to HGPS based on progerin inhibition Camilla PellegriniOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O8 (11 November 2015) Full text | PDF

Oral presentation    Efficient progerin clearance through autophagy induction and SRSF-1 downregulation in Hutchinson-Gilford Progeria Syndrome Karim HarhouriOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O9 (11 November 2015) Full text | PDF

Oral presentation    Impairment of Lamin A/C-Polycomb crosstalk as a possible epigenetic cause of Emery Dreifuss Muscular Dystrophy (EDMD) Chiara LanzuoloOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O10 (11 November 2015) Full text | PDF

Oral presentation    Gene Therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD) by Trans-Splicing Feriel Azibani, Anne T BertrandOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O11 (11 November 2015) Full text | PDF

Oral presentation    Chromatin dynamics and in vitro biomarkers in laminopathies: an overview Giovanna LattanziOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O12 (11 November 2015) Full text | PDF

Oral presentation    LMNA p.R482W mutation related to FPLD2 alters SREBP1-A type lamin interactions in human fibroblasts and adipose stem cells Brigitte BuendiaOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O13 (11 November 2015) Full text | PDF

Oral presentation    Altered cytokine profiles in laminopathic patients Pia BernasconiOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O14 (11 November 2015) Full text | PDF

Oral presentation    microRNA deregulation in Hutchinson-Gilford Progeria Patrice RollOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O15 (11 November 2015) Full text | PDF

Oral presentation    Update of Emerinopathies’ clinical-genetic spectrum: the French network experience France Leturcq, Rabah Ben YaouOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O16 (11 November 2015) Full text | PDF

Oral presentation    Emerin oligomerisation properties, impact on lamin and actin recognition Isaline Herrada, Sophie Zinn-JustinOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O17 (11 November 2015) Full text | PDF

Oral presentation    FHL1 protein isoforms in Emery-Dreifuss muscular dystrophy Esma Ziat, Anne T BertrandOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O18 (11 November 2015) Full text | PDF

Oral presentation    LMNA-associated myopathies: the Italian experience in a large cohort of patients Lorenzo MaggiOrphanet Journal of Rare Diseases 2015, 10(Suppl 2):O19 (11 November 2015) Full text | PDF

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