List of works - Pascale Richard

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

scientific article published in March 2009

A complex case of diabetes due to LMNA mutation

scientific article published on 22 May 2017

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

scientific article

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

scientific article

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

scientific article published on 8 May 2009

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

scientific article published on 14 November 2012

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

scientific article

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

scientific article published on 22 December 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.

scientific article published on 12 September 2016

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

scientific article published in December 2009

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

scientific article published on 28 June 2014

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

scientific article

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

scientific article

Diaphragmatic dysfunction in Collagen VI myopathies.

scientific article published on 16 November 2013

Diaphragmatic dysfunction in SEPN1-related myopathy

scientific article published on 26 April 2017

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

scientific article published on 17 January 2009

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

scientific article published on 23 June 2010

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

scientific article

Early onset collagen VI myopathies: Genetic and clinical correlations

scientific article

FHL2 expression and variants in hypertrophic cardiomyopathy

scientific article

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.

scientific article

Genetic advances in sarcomeric cardiomyopathies: state of the art.

scientific article

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

scientific article published on 11 December 2008

Génétique des cardiomyopathies héréditaires

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

scientific article

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

scientific article published in April 2017

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

scientific article published on 23 September 2017

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

scientific article published on 7 August 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.

scientific article published on 23 July 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.

scientific article published on November 2016

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

scientific article published on 15 November 2011

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

scientific article

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

scientific article published on 07 October 2010

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

scientific article published on 11 April 2016

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

scientific article published on 02 September 2015

Natural history of pulmonary function in collagen VI-related myopathies

scientific article

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

scientific article published in November 2013

Novel LMNA Mutation Presenting as Severe Congenital Muscular Dystrophy ⬇️

scientific article published on October 1, 2010

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

scientific article

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

scientific article published on June 2015

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

scientific article published on 16 December 2015

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

scientific article published on 11 December 2009

Pregnancy in congenital myasthenic syndrome

scientific article published on 30 October 2012

Recurrent suspected myocarditis combined with infrahisian conduction disturbances revealing a desminopathy

scientific article published on 9 June 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

scientific article published on 22 February 2017

Rigid spine syndrome revealing late-onset Pompe disease

scientific article published on 14 December 2009

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

scientific article

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.

scientific article published on 06 May 2011

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

scientific article

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

scientific article published on 05 April 2015

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

scientific article

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

scientific article published on 01 October 2012

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

scientific article published on 14 September 2015

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

scientific article published on 01 February 2013

[Congenital myasthenic syndromes; French experience]

scientific article published on 01 February 2014

List of works by 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]