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Lista de obras de Gisèle Bonne

'State-of-the-heart' of cardiac laminopathies.

artículo científico

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

artículo científico publicado en 2003

199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands

scientific article published on 14 February 2014

82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands

artículo científico publicado en 2002

A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice

artículo científico publicado en 2012

A common French-Italian laminopathy registry – update & future prospects.

artículo científico publicado en 2015

A form of muscular dystrophy associated with pathogenic variants in JAG2

artículo científico publicado en 2021

A lamin A/C variant causing striated muscle disease provides insights into filament organization

artículo científico publicado en 2021

A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block

article

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

artículo científico publicado en 2018

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

artículo científico publicado en 2004

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy

artículo científico publicado en 2015

A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity

artículo científico publicado en 2012

Actin scaffolding by clathrin heavy chain is required for skeletal muscle sarcomere organization

artículo científico publicado en 2014

Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy

artículo científico publicado en 2007

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2007

Amelioration of desmin network defects by αB-crystallin overexpression confers cardioprotection in a mouse model of dilated cardiomyopathy caused by LMNA gene mutation

article

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

artículo científico publicado en 2015

Anti-HMGCR Antibody–Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy

artículo científico publicado en 2017

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

article

Autosomal dominant Emery–Dreifuss muscular dystrophy: a new family with late diagnosis ⬇️

artículo científico publicado el 1 de enero de 2002

Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations

artículo científico publicado en 2005

Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement

article

COOH-terminal truncated human cardiac MyBP-C alters myosin filament organization

artículo científico publicado en 2001

Cardiac Myosin-binding protein C and hypertrophic cardiomyopathy

artículo científico publicado en 1998

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

artículo científico publicado en 2016

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.

artículo científico publicado en 2016

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

artículo científico publicado en 1995

Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2011

Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors

artículo científico publicado en 2014

Clinical Features and Prognostic Implications of Familial Hypertrophic Cardiomyopathy Related to the Cardiac Myosin-Binding Protein C Gene ⬇️

artículo científico publicado el 9 de junio de 1998

Clinical and genetic heterogeneity in laminopathies.

artículo científico

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

article

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

artículo científico publicado en 2017

Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study

article by Giuseppe Boriani et al published April 2003 in Stroke Journal

Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy

artículo científico publicado en 1996

Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation.

artículo científico publicado en 2018

Complex interactions between human myoblasts and the surrounding 3D fibrin-based matrix

artículo científico publicado en 2012

Consequences of Lmna Exon 4 Mutations in Myoblast Function

artículo científico publicado en 2020

De novo LMNA mutations cause a new form of congenital muscular dystrophy

artículo científico publicado en 2008

Decreased WNT/β-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene.

artículo científico publicado en 2017

Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy

artículo científico publicado en 1993

DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death

artículo científico publicado en 2011

Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery–Dreifuss muscular dystrophy

scholarly article by Maggie C. Walter et al published January 2005 in Neuromuscular Disorders

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

artículo científico publicado en 2014

Diagnostic Value of Electrocardiography and Echocardiography for Familial Hypertrophic Cardiomyopathy in a Genotyped Adult Population ⬇️

artículo científico publicado el 1 de julio de 1997

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

artículo científico publicado en 1998

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

artículo científico publicado en 2000

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

artículo científico publicado en 2010

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

artículo científico publicado en 2006

Distinction between two populations of islet-1-positive cells in hearts of different murine strains

artículo científico publicado en 2011

Distinctive serum miRNA profile in mouse models of striated muscular pathologies

artículo científico publicado en 2013

Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy

artículo científico publicado en 1999

Dystrophin quantification: Biological and translational research implications

artículo científico publicado en 2014

EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.

artículo científico publicado en 2016

ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene

artículo científico publicado en 2016

Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2)

scientific article published on 01 April 2000

El Pyruvate Dehydrogenase Deficiency in a Child with Motor Neuropathy

scientific article published on 01 March 1993

Elevated TGF β2 serum levels in Emery-Dreifuss muscular dystrophy: implications for myocyte and tenocyte differentiation and fibrogenic processes.

artículo científico publicado en 2018

Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2002

Emery–Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies ⬇️

artículo científico publicado el 1 de enero de 2013

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy

artículo científico publicado en 2012

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

artículo científico publicado en 2003

Expression of cytochrome c oxidase subunits encoded by mitochondrial or nuclear DNA in the muscle of patients with zidovudine myopathy.

artículo científico publicado en 1994

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

artículo científico publicado en 2004

FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation

scientific article published on 14 March 2014

FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy

artículo científico publicado en 2016

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

artículo científico publicado en 1998

First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope

artículo científico publicado en 2015

First description of germline mosaicism in familial hypertrophic cardiomyopathy.

artículo científico publicado en 2000

Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients.

artículo científico publicado en 2014

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy

artículo científico publicado en 2002

Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.

artículo científico publicado en 2017

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

artículo científico publicado en 2017

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)

artículo científico publicado en 1991

Genetics of laminopathies.

artículo científico publicado en 2005

Genotype–phenotype correlations in familial hypertrophic cardiomyopathy A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes

article

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

artículo científico publicado en 2008

Guiding the molecular diagnosis of hypertrophic cardiomyopathy

artículo científico publicado en 2012

Heart involvement in lamin A/C related diseases.

artículo científico publicado en 2006

Heart-hand syndrome of Slovenian type: a new kind of laminopathy

artículo científico publicado en 2008

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

article

Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.

artículo científico publicado en 2012

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

artículo científico publicado en 2021

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

artículo científico publicado en 2000

Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy

artículo científico publicado en 1998

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

scientific journal article

Improvement of Left Ventricular Dysfunction and of Survival Prognosis of Dilated Cardiomyopathy by Administration of Calcium Sensitizer SCH00013 in a Mouse Model

artículo científico publicado en 2010

Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.

artículo científico publicado en 2008

Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations

artículo científico publicado el 1 de agosto de 1992

LMNA mutations in atypical Werner's syndrome

La Société Française de Myologie a du cœur

artículo científico publicado en 2016

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

artículo científico publicado en 2002

Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.

artículo científico publicado en 2009

Lamin and the heart

artículo científico publicado en 2017

Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth

scientific article published on 30 December 2020

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

scientific article published on September 2015

Laminopathies : un seul gène, de nombreuses pathologies

article

Laminopathies affecting skeletal and cardiac muscles: clinical and pathophysiological aspects.

artículo científico publicado en 2005

Laminopathies disrupt epigenomic developmental programs and cell fate

artículo científico publicado en 2016

Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1.

artículo científico publicado en 2017

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

artículo científico publicado en 2002

MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy

scientific article published on 12 August 2011

Microtubule cytoskeleton regulates Connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene

article

Mitogen-Activated Protein Kinase Inhibitors Improve Heart Function and Prevent Fibrosis in Cardiomyopathy Caused by Mutation in Lamin A/C Gene ⬇️

artículo científico publicado el 20 de diciembre de 2010

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

artículo científico publicado en 2018

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

artículo científico publicado en 2010

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

artículo científico publicado en 2004

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

artículo científico publicado en 2007

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

artículo científico publicado en 2018

Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells

artículo científico publicado en 2019

Mutation in lamin A/C sensitizes the myocardium to exercise-induced mechanical stress but has no effect on skeletal muscles in mouse.

artículo científico publicado en 2016

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

artículo científico publicado en 1999

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

artículo científico publicado en 2009

Myoblasts and embryonic stem cells differentially engraft in a mouse model of genetic dilated cardiomyopathy

artículo científico publicado en 2013

Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).

artículo científico publicado en 2006

Myofibrillar myopathies: State of the art, present and future challenges

artículo científico

N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene

article

N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutations

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Novel role of Tieg1 in muscle metabolism and mitochondrial oxidative capacities

scientific article published on 19 October 2019

Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations.

artículo científico publicado en 2013

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene

artículo científico publicado en 2003

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

article

Nuclear envelope and striated muscle diseases

artículo científico

Nuclear envelope proteins in health and diseases

article

Nuclear lamins: laminopathies and their role in premature ageing.

artículo científico publicado en 2006

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

artículo científico publicado en 2015

Penetrance of familial hypertrophic cardiomyopathy

artículo científico publicado el 1 de enero de 1997

Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene

article

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

artículo científico publicado en 2007

Primary Myocardial Dysfunction in Autosomal Dominant EDMD. A Tissue Doppler and Cardiovascular Magnetic Resonance Study

scientific article published on 01 January 2006

Primary laminopathy fibroblasts display altered genome organization and apoptosis.

artículo científico publicado en 2007

Primary prevention of sudden death in patients with lamin A/C gene mutations

artículo científico publicado en 2006

Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders

artículo científico publicado en 2004

Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy

artículo científico publicado en 2001

Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins

artículo científico publicado en 2006

Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation

article

Role of dynamin 2 in the disassembly of focal adhesions.

artículo científico publicado en 2013

SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells.

artículo científico publicado en 2018

Selective Muscle Involvement on Magnetic Resonance Imaging in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

artículo científico publicado en 2002

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.

artículo científico publicado en 2014

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

scientific article published on September 2013

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

scientific article published on 01 August 2001

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

artículo científico publicado en 2021

Striated muscle laminopathies.

artículo científico publicado en 2014

Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy.

artículo científico publicado en 2007

The 13C hyperpolarized pyruvate generated by ParaHydrogen detects the response of the heart to altered metabolism in real time.

artículo científico publicado en 2018

The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

article

The Pathogenesis and Therapies of Striated Muscle Laminopathies

artículo científico publicado en 2018

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

article

The nuclear muscular dystrophies.

artículo científico publicado en 2002

Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene.

artículo científico publicado en 2011

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

artículo científico publicado en 2015

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

artículo científico publicado en 2005

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

artículo científico publicado en 2011

Upregulation of PPARbeta/delta is associated with structural and functional changes in the type I diabetes rat diaphragm

artículo científico publicado en 2010

Vue exceptionnelle d’un nouveau site…

scientific article published on 06 November 2015

What Should the Cardiologist know about Lamin Disease?

artículo científico publicado en 2012

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

artículo científico publicado en 2005

[Cardiac manifestations of laminopathies]

artículo científico publicado en 2004

[Diagnostic odyssey at the heart of the 3rd National Initiative for Rare Disorders]

scientific article published on 12 November 2018

[The laminopathy saga]

artículo científico publicado en 2003

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS]

scientific article published on 12 November 2018

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