Lista de obras - Pascale Richard - Dominio Público Uruguay

A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathy.

artículo científico publicado en 2009

A complex case of diabetes due to LMNA mutation

artículo científico publicado en 2017

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

artículo científico publicado en 2013

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy

artículo científico publicado en 2009

A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy

artículo científico publicado en 2009

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

Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: is sporting disqualification really necessary?

artículo científico publicado en 2012

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

artículo científico publicado en 2014

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

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.

artículo científico publicado en 2009

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

artículo científico publicado en 2014

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

artículo científico publicado en 2017

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.

scientific article published on 23 December 2016

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

artículo científico publicado en 2010

Diaphragmatic dysfunction in Collagen VI myopathies.

artículo científico publicado en 2013

Diaphragmatic dysfunction in SEPN1-related myopathy

artículo científico publicado en 2017

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging

artículo científico publicado en 2010

Early onset collagen VI myopathies: Genetic and clinical correlations

artículo científico publicado en 2010

FHL2 expression and variants in hypertrophic cardiomyopathy

artículo científico publicado en 2014

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations

scientific article published on 18 July 2019

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

artículo científico publicado en 2012

Genetic advances in sarcomeric cardiomyopathies: state of the art.

artículo científico publicado en 2015

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

artículo científico publicado en 2008

Génétique des cardiomyopathies héréditaires

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study

artículo científico publicado en 2011

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

artículo científico publicado en 2017

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations: Authors' reply

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

artículo científico publicado en 2009

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

scientific article published on September 2015

Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers.

artículo científico publicado en 2016

Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

artículo científico publicado en 2011

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

artículo científico publicado en 2015

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

artículo científico publicado en 2010

Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

artículo científico publicado en 2016

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

artículo científico

Natural history of pulmonary function in collagen VI-related myopathies

artículo científico publicado en 2013

New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease

artículo científico publicado en 2013

Novel LMNA Mutation Presenting as Severe Congenital Muscular Dystrophy ⬇️

artículo científico publicado el 1 de octubre de 2010

Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients.

artículo científico publicado en 2009

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

artículo científico publicado en 2009

Pregnancy in congenital myasthenic syndrome

artículo científico publicado en 2012

Recurrent suspected myocarditis combined with infrahisian conduction disturbances revealing a desminopathy

artículo científico publicado en 2015

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

artículo científico publicado en 2017

Rigid spine syndrome revealing late-onset Pompe disease

artículo científico publicado en 2009

Significance of deep T-wave inversions in asymptomatic athletes with normal cardiovascular examinations: practical solutions for managing the diagnostic conundrum

artículo científico publicado en 2012

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

scientific article published on September 2013

Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity

scientific article published on 27 December 2018

Telethonin-deficiency initially presenting as a congenital muscular dystrophy.

artículo científico publicado en 2011

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

artículo científico publicado en 2008

The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the

artículo científico

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

artículo científico publicado en 2011

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

artículo científico publicado en 2012

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern

artículo científico publicado en 2015

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]

artículo científico publicado en 2013

[Congenital myasthenic syndromes; French experience]

artículo científico publicado en 2014

Lista de obras de Pascale Richard

A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathy.

A complex case of diabetes due to LMNA mutation

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy

A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy

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

Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: is sporting disqualification really necessary?

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

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

Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

Diaphragmatic dysfunction in Collagen VI myopathies.

Diaphragmatic dysfunction in SEPN1-related myopathy

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

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

Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging

Early onset collagen VI myopathies: Genetic and clinical correlations

FHL2 expression and variants in hypertrophic cardiomyopathy

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

Genetic advances in sarcomeric cardiomyopathies: state of the art.

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

Génétique des cardiomyopathies héréditaires

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations: Authors' reply

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

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

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

Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers.

Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

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

Natural history of pulmonary function in collagen VI-related myopathies

New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease

Novel LMNA Mutation Presenting as Severe Congenital Muscular Dystrophy ⬇️

Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients.

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling

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

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Pregnancy in congenital myasthenic syndrome

Recurrent suspected myocarditis combined with infrahisian conduction disturbances revealing a desminopathy

Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement

Rigid spine syndrome revealing late-onset Pompe disease

Significance of deep T-wave inversions in asymptomatic athletes with normal cardiovascular examinations: practical solutions for managing the diagnostic conundrum

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

Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity

Telethonin-deficiency initially presenting as a congenital muscular dystrophy.

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the

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

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]

[Congenital myasthenic syndromes; French experience]