Publications by authors named "Nicole Monnier"

50Publications

Asymmetric muscle weakness due to mosaic mutations.

Neurology 2020 Sep 28. Epub 2020 Sep 28.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France

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http://dx.doi.org/10.1212/WNL.0000000000010947DOI Listing
September 2020

TRPV1 variants impair intracellular Ca signaling and may confer susceptibility to malignant hyperthermia.

Genet Med 2019 02 21;21(2):441-450. Epub 2018 Jun 21.

Inserm U1003, Laboratory of Excellence, Ion Channels Science and Therapeutics, Equipe Labélisée par la Ligue Nationale Contre le Cancer, SIRIC ONCOLille, Université des Sciences et Technologies de Lille, Villeneuve d'Ascq, 59656, France.

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http://dx.doi.org/10.1038/s41436-018-0066-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752298PMC
February 2019

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

Neuromuscul Disord 2015 May 9;25(5):397-402. Epub 2015 Feb 9.

Biochimie et Génétique moléculaire, Institut de Biologie et Pathologie, CHU Grenoble, France.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966150003
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http://dx.doi.org/10.1016/j.nmd.2015.01.016DOI Listing
May 2015

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Am J Med Genet A 2014 Dec 24;164A(12):3027-34. Epub 2014 Sep 24.

Fédération Hospitalo-Universitaire TRANSLAD et Centre de Génétique et Centre de Référence «Anomalies du Développement et Syndromes Malformatifs» du Grand Est, Hôpital d'Enfants, CHU Dijon, Dijon, France; Université de Bourgogne, Dijon, France.

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http://dx.doi.org/10.1002/ajmg.a.36751DOI Listing
December 2014

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.

J Neurol Neurosurg Psychiatry 2014 Oct 14;85(10):1149-52. Epub 2014 May 14.

Department of Translational Medicine and Neurogenetics, IGBMC, Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France Université de Strasbourg, Illkirch, France Collège de France, chaire de génétique humaine, Illkirch, France.

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http://dx.doi.org/10.1136/jnnp-2013-306754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173876PMC
October 2014

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

Neuromuscul Disord 2012 Oct;22 Suppl 2:S137-47

AP-HP, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Pôle neuro-locomoteur, Hôpital R. Poincaré. Service d'imagerie médicale, Groupe Rachis Garches, F-92380 Garches, France.

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http://linkinghub.elsevier.com/retrieve/pii/S096089661200529
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http://dx.doi.org/10.1016/j.nmd.2012.06.347DOI Listing
October 2012

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

Muscle Nerve 2011 Aug;44(2):280-2

Institute for Neuroscience and Muscle Research, Discipline of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Locked Bag 4001, Westmead, New South Wales 2145, Australia.

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http://doi.wiley.com/10.1002/mus.22118
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http://dx.doi.org/10.1002/mus.22118DOI Listing
August 2011

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

Eur J Med Genet 2011 Jan-Feb;54(1):29-33. Epub 2010 Oct 1.

Institut de Myologie, Unité de Morphologie Neuromusculaire, Groupe Hospitalier-Universitaire Pitié-Salpêtrière, Paris F-75013, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.009DOI Listing
June 2011

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

Neuromuscul Disord 2010 Jul 15;20(7):464-6. Epub 2010 Jun 15.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966100023
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http://dx.doi.org/10.1016/j.nmd.2010.05.012DOI Listing
July 2010

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.

Clin Biochem 2010 Apr 4;43(6):609-14. Epub 2010 Jan 4.

Laboratoire de Biochimie et Génétique Moléculaire de l'ADN, CHU Grenoble, 38043 Grenoble Cedex, France.

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https://linkinghub.elsevier.com/retrieve/pii/S00099120090056
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http://dx.doi.org/10.1016/j.clinbiochem.2009.12.012DOI Listing
April 2010

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia.

Neuromuscul Disord 2009 Oct 5;19(10):680-4. Epub 2009 Sep 5.

Laboratoire de Biochimie et Génétique Moléculaire, CHU de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1016/j.nmd.2009.07.007DOI Listing
October 2009

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Hum Mutat 2009 Sep;30(9):1267-77

Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, QEII Medical Centre, Western Australia, Australia.

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http://dx.doi.org/10.1002/humu.21059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784950PMC
September 2009

A TPM3 mutation causing cap myopathy.

Neuromuscul Disord 2009 Oct 23;19(10):685-8. Epub 2009 Jun 23.

Department of Anatomic Pathology and Neuropathology, C.H.U. Timone, Marseille, France.

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http://dx.doi.org/10.1016/j.nmd.2009.06.365DOI Listing
October 2009

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.

Neuromuscul Disord 2009 Feb 19;19(2):118-23. Epub 2009 Jan 19.

Laboratoire de Biochimie et Génétique Moléculaire & Centre de Référence des Maladies Neuro-Musculaires, CHU Grenoble, France.

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http://dx.doi.org/10.1016/j.nmd.2008.11.009DOI Listing
February 2009

[Ryanodine receptor type 1: redox state matters].

Med Sci (Paris) 2008 Nov;24(11):897-9

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http://dx.doi.org/10.1051/medsci/20082411897DOI Listing
November 2008

Mutations in TPM3 are a common cause of congenital fiber type disproportion.

Ann Neurol 2008 Mar;63(3):329-37

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/ana.21308DOI Listing
March 2008

A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.

Neuromuscul Disord 2007 Apr 21;17(4):330-7. Epub 2007 Mar 21.

Centre de Référence Maladies Neuromusculaires de l'Enfant et de l'Adulte, Nantes-Angers, France.

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http://dx.doi.org/10.1016/j.nmd.2007.01.017DOI Listing
April 2007

Characterisation of a new C1 inhibitor mutant in a patient with hepatocellular carcinoma.

Mol Immunol 2006 Jul 10;43(14):2161-8. Epub 2006 Mar 10.

INSERM U607 and Laboratoire de Biochimie Génétique et Moléculaire, CHU de Grenoble, F-38043 Grenoble, France.

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http://linkinghub.elsevier.com/retrieve/pii/S016158900600017
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http://dx.doi.org/10.1016/j.molimm.2006.01.006DOI Listing
July 2006

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

Hum Mutat 2006 Mar;27(3):295-6

Inserm U614, IFRMP, Faculté de Médecine et Pharmacie, Rouen, France.

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http://dx.doi.org/10.1002/humu.9414DOI Listing
March 2006

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

Neuromuscul Disord 2004 Oct;14(10):650-8

Laboratoire de Génétique Moleculaire et Chromosomique, Institut Universitaire de Recherche Clinique (IURC), CHU de Montpellier, 641 avenue du Doyen G. Giraud, 34093 Montpellier Cedex 5, France.

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http://dx.doi.org/10.1016/j.nmd.2004.05.002DOI Listing
October 2004

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.

Brain 2003 Nov 22;126(Pt 11):2341-9. Epub 2003 Aug 22.

Inserm U 582 and Institute of Myology, CHU Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/awg244DOI Listing
November 2003