N. Monnier

J. Cesbron, N. Monnier, J. Lunardi, 2009, Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.

Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.

N. Monnier, V. Frémeaux-Bacchi, M. Tosi, 2006, Human mutation.

Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype

S. Cichon, N. Monnier, D. Launay, 2014, Allergy.

Severe congenital RYR1-associated myopathy

R. Finkel, J. Dowling, L. Medne, 2013, Neurology.

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

P. Jouk, N. Monnier, J. Lunardi, 1999, American journal of human genetics.

Using complementary DNA from MyoD‐transduced fibroblasts to sequence large muscle genes

L. Waddell, N. Clarke, K. North, 2011, Muscle & nerve.

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Christophe Béroud, Olivier Danos, Mireille Claustres, 2007, Human mutation.

A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family

N. Monnier, J. Lunardi, G. Gauthier, 2001, Journal of medical genetics.

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.

The two aspartate aminotransferases of Escherichia coli K 12

N. Monnier, J. Pelmont, S. Chesne, 1978 .

Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele 1; KM-19, allele 2) and cystic fibrosis allele in the French population

B. Dastugue, M. Vidaud, A. Kitzis, 2004, Human Genetics.

Congenital myopathy with focal loss of cross-striations revisited

M. Swash, E. Aronica, N. Voermans, 2013, Neuromuscular Disorders.

This information is current as Regulatory T Cells Differentiation , Memory B Cells , and Impairments in Dendritic Cell Human C 3 Deficiency Associated with Gerlier and

D. Gerlier, N. Monnier, J. Lunardi, 2008 .

Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.

N. Monnier, J. Lunardi, K. Keating, 1994, Genomics.

Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.

R. Ophoff, B. Echenne, A. Elbaz, 1995, American journal of human genetics.

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

F. Rivier, B. Echenne, M. Cossée, 2004, Neuromuscular Disorders.

Hypokalemic Periodic Paralysis andtheDihydropyridine Receptor (CACNLIA3):Genotype/Phenotype Correlations forTwo Predominant Mutations andEvidence fortheAbsenceofa Founder Effect in16Caucasian Families

R. Ophoff, B. Echenne, G. Lenoir, 1995 .

[Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient].

N. Monnier, J. Lunardi, L. Chabraoui, 2006, Annales de biologie clinique.

Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

E. Bertini, K. Pelin, E. Mercuri, 2014, Human mutation.

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

N. Romero, V. Fowler, S. Quijano-roy, 2012, Human molecular genetics.

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.

K. Claeys, N. Romero, I. Husson, 2011, European journal of medical genetics.

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

A. Leenhardt, V. Probst, P. Ray, 2012, Human molecular genetics.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

N. Romero, P. Landrieu, N. Monnier, 2001, Human molecular genetics.

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.

TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia

Amy D. Hanna, S. Hamilton, E. Lefai, 2018, Genetics in Medicine.

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy

M. Abramowicz, N. Monnier, J. Lunardi, 2015, Neuromuscular Disorders.

C.P.1.13 A homozygous null mutation in TPM2 gene causes autosomal recessive nemaline myopathy associated with multiple pterygia

P. Mezin, P. Jouk, N. Monnier, 2007, Neuromuscular Disorders.

Calcium-Channel Receptor inSkeletal Muscle

V. Procaccio, N. Monnier, 1997 .

Risk of orally administered aluminium hydroxide and results of withdrawal.

N. Monnier, R. Reveillaud, F. Bournérias, 1983, Proceedings of the European Dialysis and Transplant Association. European Dialysis and Transplant Association.

Electron spin resonance study of human transcortin: Thiol groups and binding site topography.

E. Chambaz, N. Monnier, G. Defaye, 1980, Biochimica et biophysica acta.

Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome

N. Monnier, V. Satre, F. Devillard, 2004, Prenatal diagnosis.

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

N. Romero, B. Gilbert-Dussardier, L. García, 2013, Human gene therapy.

Cell-free synthesis and characterization of human adrenocortical pro-adrenodoxin.

E. Chambaz, N. Monnier, O. Pascal, 1986, Biochemical and biophysical research communications.

Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.

N. Romero, L. Viollet, P. Laforêt, 2005, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Mutations and polymorphisms of the skeletal muscle α‐actin gene (ACTA1)

A. Beggs, N. Laing, C. Wallgren‐Pettersson, 2009, Human mutation.