P. Richard

M. Desnos, C. Bonithon-Kopp, J. Thevenon, 2018, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

A familial form of conduction defect related to a mutation in the PRKAG2 gene.

M. Komajda, P. Charron, P. Richard, 2007, Europace.

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

P. Laforêt, T. Stojkovic, K. Wahbi, 2012, Neuromuscular Disorders.

C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

P. Coumel, E. Schulze-Bahr, B. Hainque, 1999, Circulation.

Diaphragmatic dysfunction in SEPN1-related myopathy

B. Estournet, S. Caggiano, S. Quijano-roy, 2017, Neuromuscular Disorders.

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

B. Donadille, C. Vigouroux, B. Eymard, 2022, Orphanet Journal of Rare Diseases.

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

D. Hannequin, A. Toutain, V. Drouin‐Garraud, 2005, Revue neurologique.

Cardioembolic stroke prompting diagnosis of LMNA‐associated Emery–Dreifuss muscular dystrophy

L. Redondo-Vergé, P. Richard, G. Bonne, 2011, Muscle & nerve.

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

P. Laforêt, T. Stojkovic, K. Wahbi, 2012 .

Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene.

A. Nadaj-Pakleza, D. Sternberg, P. Richard, 2018, Revue neurologique.

Novel Lamp‐2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease

I. Nishino, A. Echaniz-Laguna, P. Charron, 2006, Muscle & nerve.

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

N. Romero, J. Hogrel, P. Laforêt, 2006, Neuromuscular Disorders.

Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study.

M. Komajda, H. Madeira, P. Richard, 2008, Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology.

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

M. Koenig, F. Rivier, E. Malfatti, 2021, Genes.

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

M. Komajda, K. Schwartz, C. Bouchier, 2003, European journal of heart failure.

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

K. Claeys, N. Romero, G. Faulkner, 2009, Acta Neuropathologica.

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

S. Tezenas du Montcel, A. Toutain, C. Rooryck, 2020, Journal of clinical medicine.

Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case

M. Komajda, J. Oury, P. Charron, 2004, Prenatal diagnosis.

MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction

P. Richard, L. Carrier, G. Mearini, 2013, Pflügers Archiv - European Journal of Physiology.

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

G. Másson, C. Goizet, X. Ferrer, 2004, Journal of Medical Genetics.

Two patients with ‘Dropped head syndrome’ due to mutations in LMNA or SEPN1 genes

A. D’Amico, S. Benedetti, E. Bertini, 2005, Neuromuscular Disorders.

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

E. Ricci, D. Toniolo, F. Hanisch, 2002, Neuromuscular Disorders.

Identification of RHCE and KEL alleles in large cohorts of Afro‐Caribbean and Comorian donors by multiplex SNaPshot and fragment assays: a transfusion support for sickle cell disease patients

J. Chiaroni, P. Bailly, S. Beley, 2011, British journal of haematology.

ColVI myopathies: where do we stand, where do we go?

T. Stojkovic, S. Quijano-roy, P. Richard, 2011, Skeletal Muscle.

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

S. Tezenas du Montcel, M. Komajda, P. Charron, 2010, European heart journal.

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

M. Yacoub, M. Komajda, A. Hagège, 1996, Circulation.

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

B. Peterlin, P. Richard, G. Bonne, 2008, Journal of Medical Genetics.

Long reads sequencing strategy to localize variants in TTN repeated domains.

M. Cossée, F. Leturcq, S. Quijano-roy, 2022, The Journal of molecular diagnostics : JMD.

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

E. Bertini, F. Muntoni, L. de Meirleir, 2008, Annals of neurology.

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

K. Claeys, G. Faulkner, T. Maisonobe, 2008, Neuromuscular Disorders.

Recurrent suspected myocarditis combined with infrahisian conduction disturbances revealing a desminopathy

P. De Groote, P. Charron, P. Richard, 2015, HeartRhythm case reports.

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia

K. Claeys, P. Laforêt, B. Eymard, 2009, Neuromuscular Disorders.

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

I. Nelson, D. Figarella-Branger, N. Romero, 2015, Revue neurologique.

First description of germline mosaicism in familial hypertrophic cardiomyopathy

M. Komajda, C. Moraine, B. Hainque, 2000, Journal of medical genetics.

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

D. Tregouet, G. Jondeau, E. Donal, 2019, Archives of Cardiovascular Diseases Supplements.

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

I. Nelson, R. Carlier, P. Carlier, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy

E. Bertini, B. Schlotter-Weigel, E. Malfatti, 2020, Neurology.

Novel LMNA mutation presenting as severe congenital muscular dystrophy.

J. Groswasser, N. Deconinck, P. Richard, 2010, Pediatric neurology.

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

B. Eymard, T. Stojkovic, T. Voit, 2010, Neuromuscular Disorders.

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy

N. Clarke, P. Guicheney, S. Maugenre, 2009, Neuromuscular Disorders.

Multitissular involvement in a family with LMNA and EMD mutations

A. Toutain, F. Leturcq, D. Babuty, 2007, Neurology.

G.P.4.04 Lamin A/C gene mutation as a cause of dropped head syndrome. Extending the striated muscle laminopathies

P. Richard, J. Colomer, G. Bonne, 2006, Neuromuscular Disorders.

External validation of risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers

P. Charron, F. Hidden‐Lucet, P. Richard, 2019, European journal of heart failure.

Novel mutations in KvLQT 1 that affect I activation through interactionsks with Isk

J. Barhanin, B. Hainque, P. Guicheney, 2000 .

Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy

P. Charron, P. Fornés, P. Richard, 2020, Open medicine.

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

F. Chapon, G. Coutance, P. Richard, 2013, Congenital heart disease.

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.

Ahmed Rebai, P. Guicheney, P. Richard, 2007, Genetic testing.

MUSK, a new target for mutations causing congenital myasthenic syndrome.

C. Legay, L. Schaeffer, E. Goillot, 2004, Human molecular genetics.

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

B. Eymard, J. Leroy, M. Fardeau, 2004, Neuromuscular Disorders.

Drosophila CRISPR/Cas9 mutants as tools to analyse cardiac filamin function and pathogenicity of human FLNC variants

P. Richard, F. Ader, E. Villard, 2022, Biology open.

Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies

N. Romero, F. Leturcq, B. Estournet, 2008, Neuromuscular Disorders.

Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction.

G. Jondeau, E. Donal, L. Faivre, 2021, Journal of cardiac failure.

A Cardio‐Neurological Form of Laminopathy: Dilated Cardiomyopathy with Permanent Partial Atrial Standstill and Axonal Neuropathy

P. Cintas, E. Bieth, P. Richard, 2009, Pacing and clinical electrophysiology : PACE.

Genetics of laminopathies.

T. Arimura, P. Richard, G. Bonne, 2005, Novartis Foundation symposium.

Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations

A. Kariminejad, P. Richard, C. Ledeuil, 2013, Iranian journal of child neurology.

Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant

P. Richard, F. Ader, E. Villard, 2021 .

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

F. Muntoni, M. Zatz, N. Romero, 2005, Neuromuscular Disorders.

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

N. Romero, B. Estournet, S. Quijano-roy, 2004, Neurogenetics.

[Oculopharyngeal muscular dystrophy: study of patients from seven Spanish families with different GCG expansions in PABP2 gene].

B. Brais, P. Richard, E. Hammouda, 2004, Neurologia.

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

D. Figarella-Branger, E. Malfatti, N. Romero, 2013, Journal of neuropathology and experimental neurology.

Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes

G. Bassez, B. Eymard, T. Stojkovic, 2022, Neuromuscular Disorders.

Congenital myasthenic syndromes

B. Eymard, P. Richard, D. Hantaı̈, 2004, Handbook of clinical neurology.

Familial hypertrophic cardiomyopathy: from mutations to functional defects.

B. Hainque, K. Schwartz, P. Richard, 1998, Circulation research.

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

V. Frey, J. Harpey, C. Cruaud, 1998, Journal of medical genetics.

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity

C. Béroud, R. Carlier, J. Rendu, 2018, European Radiology.

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

P. Vermersch, P. Laforêt, T. Stojkovic, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

F. Muntoni, C. Bönnemann, N. Romero, 2002, American journal of human genetics.

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

J. Jais, K. Claeys, I. Nelson, 2016, Revue neurologique.

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

S. Batonnet-Pichon, P. Richard, F. Bruston, 2010, Neuromuscular Disorders.

F. Hanefeld, H. Goebel, C. Bönnemann, 2004, Annals of neurology.

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder

Hanns Lochmüller, B. Eymard, J. Cossins, 2004, Journal of Medical Genetics.

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

P. Elliott, P. Matthews, D. O’Regan, 2020, Nature Genetics.

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

J. Beckmann, J. Weissenbach, M. Komajda, 1995, Nature Genetics.

Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.

M. Komajda, A. Hagège, M. Desnos, 1997, Circulation research.

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

A. Angelini, J. Veselka, S. Sperling, 2016, Archives of medical science : AMS.

Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies

F. Chapon, B. Buendia, C. Rooryck, 2023, Cells.

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

D. Trégouët, G. Jondeau, E. Donal, 2018, Clinical genetics.

Genetic advances in sarcomeric cardiomyopathies: state of the art

Y. Pinto, F. Girolami, P. Charron, 2015, Cardiovascular research.

Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany.

F. Girolami, F. Torricelli, I. Olivotto, 2003, The American journal of cardiology.

Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties.

Y. Lecarpentier, M. Weyand, K. Amann, 2004, Journal of molecular and cellular cardiology.

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

C. Béroud, I. Nelson, A. Toutain, 2015, Journal of neuromuscular diseases.

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

D. Orlikowski, L. Viollet, B. Eymard, 2010, Journal of Neurology.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

The genetic bases of cardiomyopathies

P. Charron, P. Richard, R. Isnard, 2006 .

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

E. Arbustini, M. Komajda, K. Wegscheider, 2009, European heart journal.

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

Susan C. Brown, E. Mercuri, F. Muntoni, 2006, Brain : a journal of neurology.

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

N. Romero, B. Estournet, S. Quijano-roy, 2015, Muscle & nerve.

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

B. Donadille, C. Vigouroux, A. Cohen, 2020, Cells.

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

Mathew G. Wilson, P. Charron, I. Denjoy, 2012, British Journal of Sports Medicine.

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

B. Estournet, S. Quijano-roy, D. Gómez-Andrés, 2015, Muscle & nerve.

Rigid spine syndrome revealing late-onset Pompe disease

K. Claeys, P. Laforêt, B. Eymard, 2010, Neuromuscular Disorders.

Double lamin-emerin and lamin-desmin trouble

Francesco Muntoni, Sc Brown, Pascale Richard, 2005 .

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

U. Hellman, B. Hainque, K. Schwartz, 2003, Journal of molecular and cellular cardiology.

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

L. Schaeffer, E. Goillot, A. Taly, 2013, PloS one.

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

P. Reiss, M. van der Valk, B. Eymard, 2002, Neurology.

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

M. Golubenko, K. Schwartz, H. Vosberg, 2003, Journal of molecular and cellular cardiology.

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

T. Crawford, F. Muntoni, R. Weiss, 2015, Human mutation.

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

A. Nalini, P. Richard, J. Urtizberea, 2013, Neurology India.

Natural history of pulmonary function in collagen VI-related myopathies.

E. Bertini, M. Pane, E. Mercuri, 2013, Brain : a journal of neurology.

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

Mark W. Moyle, C. Anderson, K. Flanigan, 2009, Human mutation.

Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon

A. Krol, P. Guicheney, A. Lescure, 2007, Nucleic acids research.

A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1‐related myopathy

N. Petit, A. Krol, A. Ferreiro, 2006, EMBO reports.

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.

J. Bourke, E. Mercuri, K. Bushby, 2004, Archives of neurology.

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

E. Mercuri, N. Romero, R. Carlier, 2012, Neuromuscular Disorders.

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

E. Malfatti, N. Romero, B. Eymard, 2015, Journal of neuromuscular diseases.

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy

J. Pouget, B. Eymard, T. Stojkovic, 2017, Neurology.

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

P. Coumel, B. Hainque, P. Guicheney, 1999, Circulation research.

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

Pascale Richard, Philippe Charron, Gisèle Bonne, 1998, Journal of Molecular Medicine.

Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience

M. Komajda, M. Desnos, B. Hainque, 2002, Journal of medical genetics.

Diagnostic accuracy of a 2D left ventricle hypertrophy score for familial hypertrophic cardiomyopathy.

S. Tezenas du Montcel, M. Komajda, A. Hagège, 2005, European heart journal.

Deletion in the cardiac troponin I gene in a family from northern Sweden with hypertrophic cardiomyopathy.

B. Hainque, K. Schwartz, P. Richard, 2000, Journal of molecular and cellular cardiology.

Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.

M. Komajda, A. Camproux, A. Hagège, 1998, Circulation.

Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.

J. Barhanin, B. Hainque, P. Guicheney, 2000, Cardiovascular research.

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.

M. Patton, P. Syrris, P. Guicheney, 1999, Circulation.

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

A. Chaboud, L. Schaeffer, E. Goillot, 2009, American journal of human genetics.

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

E. Génin, H. Lochmüller, J. Pouget, 2008, Neurology.

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

E. Génin, J. Pouget, A. Barois, 2008 .

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

B. Eymard, T. Stojkovic, T. Kuntzer, 2012, Neuromuscular Disorders.

Aggresome–Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

N. Maraldi, M. Sandri, M. Chrisam, 2014, Front. Aging Neurosci..

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

M. Komajda, A. Hagège, B. Hainque, 1999, Journal of medical genetics.

Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population.

M. Komajda, A. Hagège, M. Desnos, 1997, Circulation.

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

A. Zwinderman, Y. Pinto, E. Arbustini, 2013, European journal of heart failure.

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

K P George, H. Heidbuchel, M. Sheppard, 2012, British Journal of Sports Medicine.

Pregnancy in congenital myasthenic syndrome

L. Servais, B. Eymard, T. Stojkovic, 2013, Journal of Neurology.

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

M. Komajda, A. Hagège, M. Desnos, 1998, European heart journal.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

R. Porcher, É. Marijon, A. Lazarus, 2019, Circulation.

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes

A. Barois, B. Eymard, B. Hainque, 2003, Journal of medical genetics.

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

L. Servais, P. Laforêt, B. Eymard, 2013, Revue neurologique.

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.

D. Bertrand, S. Coutant, F. Lecoquierre, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy.

J. Daubert, C. Leclercq, M. Komajda, 2000, Journal of molecular and cellular cardiology.

Calcified mediastinal haematoma: a rare case of cardiac constriction

M. Komajda, V. Drouin‐Garraud, T. Frebourg, 2004, Heart.

Accuracy of European diagnostic criteria for familial hypertrophic cardiomyopathy in a genotyped population.

M. Komajda, A. Hagège, M. Desnos, 2003, International journal of cardiology.

MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction

P. Richard, L. Carrier, G. Mearini, 2014, Pflügers Archiv - European Journal of Physiology.

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

M. Komajda, L. Gouya, P. Charron, 2013, European journal of heart failure.

Genotype‐phenotype analysis in four families with mutations in β‐myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy

M. Komajda, M. Desnos, C. Cruaud, 1998, Human mutation.

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome

B. Echenne, B. Eymard, E. Fournier, 2007, Neuromuscular Disorders.

A novel risk model for predicting potentially life-threatening arrhythmias in non-ischemic dilated cardiomyopathy (DCM-SVA risk).

R. Płoski, F. Asselbergs, W. Gi, 2021, International journal of cardiology.

Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.

P. Guicheney, P. Richard, N. Louhichi, 2006, Archives de l'Institut Pasteur de Tunis.

[Congenital myasthenic syndromes; French experience].

B. Eymard, M. Fardeau, E. Fournier, 2014, Bulletin de l'Academie nationale de medecine.

Abnormal Distribution of Calcium-Handling Proteins: A Novel Distinctive Marker in Core Myopathies

K. Parain, N. Romero, J. Leroy, 2007, Journal of neuropathology and experimental neurology.

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation

D. Figarella-Branger, E. Uro-Coste, T. Levade, 2009, Neuromuscular Disorders.

Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, αB-crystallin, myotilin, LMNA or SEPN1 genes

S. Simon, A. Ferreiro, P. Richard, 2006, Neuromuscular Disorders.

Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation.

N. Lamblin, D. Lacroix, C. Vigouroux, 2019, Diabetes & metabolism.

P2.18 A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features

K. Claeys, N. Romero, B. Eymard, 2010, Neuromuscular Disorders.

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder

R. Carlier, P. de Mazancourt, K. Bénistan, 2021, Clinical case reports.

Notched T Waves on Holter Recordings Enhance Detection of Patients With LQT2 (HERG) Mutations

L. Demay, D. Klug, I. Denjoy, 2001, Circulation.

Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

C. Béroud, F. Magdinier, C. Rooryck, 2019, Circulation. Genomic and precision medicine.

Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up.

M. Komajda, H. Madeira, P. Richard, 2003, Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology.

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

L. Servais, H. Cavé, N. Romero, 2014, Neuromuscular Disorders.

Heart involvement in lamin A/C related diseases.

P. Richard, G. Bonne, L. Gueneau, 2006, Archives des maladies du coeur et des vaisseaux.

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

Susan C. Brown, E. Mercuri, F. Muntoni, 2005, Muscle & nerve.

Penetrance of familial hypertrophic cardiomyopathy.

M. Komajda, M. Desnos, B. Hainque, 1997, Genetic counseling.

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

B. Eymard, F. Bouhour, P. Richard, 2010, Journal of Medical Genetics.

Familial hypertrophic cardiomyopathy: from mutations to functional defects.

B. Hainque, K. Schwartz, P. Richard, 1998, Circulation research.

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

I. Nelson, D. Figarella-Branger, N. Romero, 2015, Revue neurologique (Paris).

Morphological and genetic causes of fetal cardiomyopathies

C. Rooryck, P. Richard, T. Attié-Bitach, 2023, Clinical genetics.

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

E. Malfatti, T. Maisonobe, T. Stojkovic, 2018, Muscle & nerve.

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

A. Wilde, R. L. Lekanne Deprez, S. Mercier, 2023, Netherlands Heart Journal.

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