Volume 10, supplement issue 2, December 2015
Proceedings of the 1st French-Italian meeting on laminopathies and other nuclear envelope-related diseases
35 articles in this issue
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Molecular mechanisms of normal and pathological aging
Authors
- Carlos López-OtÃn
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O1
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Pluripotent stem cells for pathological modelling of Hutchinson-Gilford Progeria Syndrome (HGPS) and drug discovery
Authors
- Xavier Nissan
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O2
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Development of a SMCs model from HGPS-iPS and proofs of principle
Authors
- Lino Ferreira
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O3
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3D culture system of muscle precursor cell to reveal mechanosensing defects in nuclear envelope related disorders
Authors
- Catherine Coirault
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O4
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Prelamin accumulation in primary endothelial cells induces premature senescence and activation
Authors
- Nathalie Bonello-Palot
- Catherine Badens
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O5
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Hypothalamic involvement in premature aging laminopathies
Authors
- Claudia Cavadas
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O6
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Investigation of pathomechanisms of ventricular arrhythmias in cardiac laminopathies
Authors
- Antoine Muchir
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O7
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New therapeutic approaches to HGPS based on progerin inhibition
Authors
- Camilla Pellegrini
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O8
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Efficient progerin clearance through autophagy induction and SRSF-1 downregulation in Hutchinson-Gilford Progeria Syndrome
Authors
- Karim Harhouri
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O9
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Impairment of Lamin A/C-Polycomb crosstalk as a possible epigenetic cause of Emery Dreifuss Muscular Dystrophy (EDMD)
Authors
- Chiara Lanzuolo
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O10
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Gene Therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD) by Trans-Splicing
Authors
- Feriel Azibani
- Anne T Bertrand
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O11
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Chromatin dynamics and in vitro biomarkers in laminopathies: an overview
Authors
- Giovanna Lattanzi
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O12
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LMNA p.R482W mutation related to FPLD2 alters SREBP1-A type lamin interactions in human fibroblasts and adipose stem cells
Authors
- Brigitte Buendia
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O13
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Altered cytokine profiles in laminopathic patients
Authors
- Pia Bernasconi
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O14
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microRNA deregulation in Hutchinson-Gilford Progeria
Authors
- Patrice Roll
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O15
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Update of Emerinopathies’ clinical-genetic spectrum: the French network experience
Authors
- France Leturcq
- Rabah Ben Yaou
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O16
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Emerin oligomerisation properties, impact on lamin and actin recognition
Authors
- Isaline Herrada
- Sophie Zinn-Justin
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O17
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FHL1 protein isoforms in Emery-Dreifuss muscular dystrophy
Authors
- Esma Ziat
- Anne T Bertrand
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O18
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LMNA-associated myopathies: the Italian experience in a large cohort of patients
Authors
- Lorenzo Maggi
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O19
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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene
Authors
- Saida Ortolano
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O20
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Irisin levels in LMNA-mutated lipodystrophic syndromes
Authors
- Faiza Bensmaine
- Marie-Christine Vantyghem
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O21
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The nuclear lamina during human spermiogenesis
Authors
- Michael Mitchell
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O22
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Laminopathies: clinical presentations and management
Authors
- Raoul CM Hennekam
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O23
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Management of congenital muscular dystrophies related to defects in the LMNA gene
Authors
- Susana Quijano-Roy
- Adele D'Amico
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O24
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Cardiac involvement in laminopathies
Authors (first, second and last of 4)
- Giuseppe Boriani
- Elena Biagini
- Denis Duboc
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O25
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Advances in muscle imaging for Emery-Dreifuss muscular dystrophy
Authors
- Nicola Carboni
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O26
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Metreleptin therapy in LMNA-linked lipodystrophies
Authors
- Camille Vatier
- Corinne Vigouroux
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O27
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Round Table: Discussion with families and lay associations
Authors
- Tiziana Mongini
- Alessandra Gambineri
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O28
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Utility of patients’ registries to gather clinical, epidemiological and molecular information
Authors
- Gaëlle Blandin
- Christophe Béroud
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O29
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Clinical aspects of cardiolaminopathies and prospects for a cardiolaminopathy registry
Authors
- Sara Benedetti
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O30
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A common French-Italian laminopathy registry – update & future prospects
Authors
- Gisèle Bonne
- Rabah Ben Yaou
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O31
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ECLip-the European consortium on lipodystrophies: an update
Authors
- David Araújo-Vilar
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O32
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Which support from the French Foundation of rare disease towards clinical trial set up in rare diseases?
Authors
- Luigi Ravagnan
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O33
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Applications of the PMO platform to genetic diseases
Authors
- Ryszard Kole
- Content type: Oral presentation
- Open Access
- Published: 11 November 2015
- Article: O34