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Clinical Biochemistry|January 2, 2010
Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 geneCharles Coutton, Nicole Monnier, John Rendu, et al.
Neuromuscular Disorders : NMD|March 23, 2007
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological studyIsabelle Pénisson-Besnier, Nicole Monnier, Annick Toutain, et al.
Neuromuscular Disorders : NMD|March 10, 2015
A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathyGauthier Remiche, Hazim Kadhim, Marc Abramowicz, et al.
Human Mutation|February 14, 2006
Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NHChristiane Duponchel, Kamel Djenouhat, Véronique Frémeaux-Bacchi, et al.
Human Molecular Genetics|April 30, 2003
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegiaNicole Monnier, Ana Ferreiro, Isabelle Marty, et al.
Neuromuscular Disorders : NMD|September 8, 2009
First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotoniaNicole Monnier, Annie Laquerrière, Stéphane Marret, et al.
Muscle & Nerve|July 15, 2011
Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genesLeigh B Waddell, Nicole Monnier, Sandra T Cooper, et al.
Molecular Immunology|March 15, 2006
Characterisation of a new C1 inhibitor mutant in a patient with hepatocellular carcinomaNicole Monnier, Denise Ponard, Christiane Duponchel, et al.
Neuromuscular Disorders : NMD|January 22, 2009
Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathyNicole Monnier, Joel Lunardi, Isabelle Marty, et al.
The Biochemical Journal|December 24, 2005
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytesSylvie Ducreux, Francesco Zorzato, Ana Ferreiro, et al.
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