Michel Fardeau

Michel Fardeau

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Michel Fardeau

Publications by authors named "Michel Fardeau"

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Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Muscle Nerve 2019 01 16;59(1):137-141. Epub 2018 Dec 16.

Unité de Morphologie Neuromusculaire, Institut de Myologie, Sorbonne University, INSERM UMR 974, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, 75013, Paris, France.

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http://dx.doi.org/10.1002/mus.26305DOI Listing
January 2019

[About the technique of muscle biopsy (IV). The advent of histochemistry and cytoenzymology in the analysis of muscle biopsies. A short and personal historical overview].

Authors:
Michel Fardeau

Med Sci (Paris) 2017 Nov 15;33 Hors série n°1:7-10. Epub 2017 Nov 15.

Professeur honoraire au CNAM, Fondateur de la Société Française de Myologie, Paris, France.

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http://www.medecinesciences.org/10.1051/medsci/201733s102
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http://dx.doi.org/10.1051/medsci/201733s102DOI Listing
November 2017

[About the technique of muscle biopsy (III). The contribution of elctron microscopy, yesterday, and at the time of the molecular genetics era. A historical overview].

Med Sci (Paris) 2016 Nov 21;32 Hors série n°2:6-9. Epub 2016 Nov 21.

Institut de Myologie, GH Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1051/medsci/201632s202DOI Listing
November 2016

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.

Muscle Nerve 2015 Nov 18;52(5):895-9. Epub 2015 Jun 18.

UPMC Université Paris 06, Institut National de la Santé et de la Recherche Médicale UMR 974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013, Paris, France.

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http://dx.doi.org/10.1002/mus.24699DOI Listing
November 2015

[About the technique of muscle biopsy - A historical flash-back on the technique of muscle biopsie].

Authors:
Michel Fardeau

Med Sci (Paris) 2015 Nov 6;31 Spec No 3:7-10. Epub 2015 Nov 6.

Professeur honoraire au CNAM, Fondateur de la Société Française de Myologie, Paris, France.

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http://dx.doi.org/10.1051/medsci/201531s302DOI Listing
November 2015

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

J Neuromuscul Dis 2015 Jun;2(2):175-180

APHP, Centre de Référence des Maladies Neuromusculaires Paris Est, Unité de Morphologie Neuromusculaire, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, -83, bld de l'hôpital, Paris cedex 13, France.

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http://dx.doi.org/10.3233/JND-140060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5271460PMC
June 2015

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.

Ann Clin Transl Neurol 2015 Apr 16;2(4):362-72. Epub 2015 Feb 16.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM F-75013, Paris, France ; APHP, Hôpital Pitié-Salpêtrière, Centre de référence de pathologie neuromusculaire Paris-Est, Institut de Myologie Paris, France.

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http://dx.doi.org/10.1002/acn3.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402082PMC
April 2015

[Not Available].

Authors:
Michel Fardeau

Bull Acad Natl Med 2015 Jan;199(1):19-20

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January 2015

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Brain 2014 Dec 25;137(Pt 12):3160-70. Epub 2014 Sep 25.

1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France

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http://brain.oxfordjournals.org/content/brain/137/12/3160.fu
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu272DOI Listing
December 2014

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

J Med Genet 2014 Dec 17;51(12):824-33. Epub 2014 Oct 17.

Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102623DOI 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

Diagnostic workup for neuromuscular diseases.

Handb Clin Neurol 2013 ;113:1291-7

Institute of Myology, INSERM U1016, Salpêtrière Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00001-0DOI Listing
March 2014

Myofibrillar myopathies.

Handb Clin Neurol 2013 ;113:1337-42

Department of Neurology and Institute for Neuropathology, University Hospital RWTH Aachen, Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00005-8DOI Listing
March 2014

[Congenital myasthenic syndromes; French experience].

Bull Acad Natl Med 2014 Feb;198(2):257-70; discussion 270-1

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February 2014

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome.

Neuromuscul Disord 2013 Dec 4;23(12):998-1009. Epub 2013 Sep 4.

Inserm, U975, Centre de recherche de l'Institut du Cerveau et de la Moelle Épinière (CRICM), Groupe hospitalier Pitié-Salpêtrière, Paris, France; Université Pierre et Marie Curie Paris 6, UMRS975, Paris, France; CNRS, UMR7225, Paris, France; Ecole Pratique des Hautes Etudes, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2013.07.005DOI Listing
December 2013

Neuromuscular disease: muscle.

Authors:
Michel Fardeau

Curr Opin Neurol 2013 Oct;26(5):516-8

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/WCO.0b013e328365048dDOI Listing
October 2013

Extensive morphological and immunohistochemical characterization in myotubular myopathy.

Brain Behav 2013 Jul 19;3(4):476-86. Epub 2013 Jun 19.

Unité de Morphologie Neuromusculaire, Institut de Myologie GHU La Pitié-Salpêtrière, Paris, France ; Groupe Hospitalier-Universitaire La Pitié-Salpêtrière, AP-HP, Centre de référence des maladies neuromusculaires Paris-Est, Paris, France ; UPMC-Paris6 UR76, INSERM UMR974, CNRS UMR 7215, Institut de Myologie GHU La Pitié-Salpêtrière, Paris, France.

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http://doi.wiley.com/10.1002/brb3.147
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http://dx.doi.org/10.1002/brb3.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869686PMC
July 2013

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

Telethonin-deficiency initially presenting as a congenital muscular dystrophy.

Neuromuscul Disord 2011 Jun 6;21(6):433-8. Epub 2011 May 6.

AP-HP, Centre de Référence des Maladies Neuromusculaires Paris-Est, Groupe Hospitalier-Universitaire Pitié-Salpêtrière, Paris F-75013, France.

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http://dx.doi.org/10.1016/j.nmd.2011.03.005DOI Listing
June 2011

156th ENMC International Workshop: desmin and protein aggregate myopathies, 9-11 November 2007, Naarden, The Netherlands.

Neuromuscul Disord 2008 Jul 1;18(7):583-92. Epub 2008 Jul 1.

Johannes Gutenberg University, Medical Center, Langenbeckstrasse 1, 55131 Mainz, Germany.

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http://dx.doi.org/10.1016/j.nmd.2008.04.008DOI Listing
July 2008

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

N Engl J Med 2007 Dec;357(26):2687-95

INSERM Unité 702, Université Pierre et Marie Curie, Paris 6, Unités Mixtes de Recherche Scientifique 702, Assistance Publique-Hôpitaux de Paris, Hôpital Tenon, France.

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http://dx.doi.org/10.1056/NEJMoa071906DOI Listing
December 2007

[Historical review on the researches on muscular dystrophies].

Authors:
Michel Fardeau

Rinsho Shinkeigaku 2006 Nov;46(11):814

CNRS, 3. rue Michel-Ange 75794 Paris, France.

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November 2006

Myotilinopathy in a family with late onset myopathy.

Neuromuscul Disord 2006 Jul 21;16(7):427-31. Epub 2006 Jun 21.

Département de Neurologie, Centre Hospitalier Universitaire d'Angers, 4 rue Larrey, 49033 Angers, France.

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http://dx.doi.org/10.1016/j.nmd.2006.04.009DOI Listing
July 2006

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

Brain 2006 Jun 3;129(Pt 6):1463-9. Epub 2006 Apr 3.

Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie IFR14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1093/brain/awl071DOI Listing
June 2006

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Nat Genet 2005 Nov 16;37(11):1207-9. Epub 2005 Oct 16.

INSERM U582, Institute of Myology, IFR14, Groupe Hospitalier Pitié-Salpêtrière, UPMC, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1038/ng1657DOI Listing
November 2005

[About a phase I gene therapy clinical trial with a full-length dystrophin gene-plasmid in Duchenne/Becker muscular dystrophy].

J Soc Biol 2005 ;199(1):29-32

Institut de Myologie et Inserm U582, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtriere, 75651 Paris.

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http://dx.doi.org/10.1051/jbio:2005004DOI Listing
October 2005

Protein 4.1R expression in normal and dystrophic skeletal muscle.

C R Biol 2005 Jan;328(1):43-56

Inserm U473 & Service d'hématologie, hôpital de Bicêtre and faculté de médecine Paris-Sud, 63, rue Gabriel-Péri, 94270 Le Kremlin-Bicêtre cedex, France.

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http://dx.doi.org/10.1016/j.crvi.2004.11.003DOI Listing
January 2005

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

Hum Mol Genet 2004 Dec 20;13(24):3229-40. Epub 2004 Oct 20.

INSERM U582 & IFR Cur, Muscle, Vaisseaux, Institut de Myologie, Hôpital de la Salpêtrière and Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddh333DOI Listing
December 2004

121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7-9 November 2003, Naarden, The Netherlands.

Neuromuscul Disord 2004 Nov;14(11):767-73

Department of Neuropathology, Johannes Gutenberg University Medical Center, Langenbeckstrasse 1, 55101 Mainz, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660400209
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http://dx.doi.org/10.1016/j.nmd.2004.08.003DOI Listing
November 2004

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

Ann Neurol 2004 May;55(5):676-86

Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://doi.wiley.com/10.1002/ana.20077
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http://dx.doi.org/10.1002/ana.20077DOI Listing
May 2004

EMG and nerve conduction studies in children with congenital muscular dystrophy.

Muscle Nerve 2004 Feb;29(2):292-9

Unité de Neurophysiologie, Hôpital d'Enfants Armand-Trousseau, 28 avenue Arnold Netter, 75571 Paris, France.

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http://dx.doi.org/10.1002/mus.10544DOI Listing
February 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

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency.

Neuromuscul Disord 2003 Sep;13(7-8):545-53

AFM-CEA NMR Laboratory, Institut de Myologie, IFR14, G.H. Pitié-Salpêtrière, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1016/s0960-8966(03)00069-5DOI Listing
September 2003

[From clinical medicine to molecular genetics: the new outlook of hereditary muscular dystrophies].

Authors:
Michel Fardeau

Bull Acad Natl Med 2002 ;186(6):1035-47; discussion 1047-9

L'Institut de Myologie-Hôpital de La Salpêtrière-Bâtiment Babinski-83, Bd de l'Hôpital-75651 Paris.

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August 2003

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.

Neuromuscul Disord 2003 Mar;13(3):236-44

Institut de Myologie, INSERM U.523, Hôpital de la Salpêtrière, 47 Boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1016/s0960-8966(02)00243-2DOI Listing
March 2003

Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands.

Neuromuscul Disord 2002 Oct;12(7-8):687-92

Department of Neuropathology, Mainz University Medical Center, Langenbeckstrasse 1, 55131, Mainz, Germany.

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http://dx.doi.org/10.1016/s0960-8966(02)00024-xDOI Listing
October 2002

Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies. Part III. Ethical considerations.

Authors:
Michel Fardeau

Neuromuscul Disord 2002 Oct;12 Suppl 1:S52-4

Institut de Myologie, AFM, Bâtiment Babinski, Hôpital de la Salpêtrière, 75651 Paris Cedex 13, France.

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http://dx.doi.org/10.1016/s0960-8966(02)00099-8DOI Listing
October 2002

Glucocorticoid treatment induces expression of small heat shock proteins in human satellite cell populations: consequences for a desmin-related myopathy involving the R120G alpha B-crystallin mutation.

Neuromuscul Disord 2002 Jun;12(5):457-65

Laboratoire Cytosquelette et Développement, Université Paris VI, CNRS UMR 7000, Faculté de Médecine Pitié-Salpêtrière, 105 Boulevard De l'Hôpital, 75634 Cedex 13, Paris, France.

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http://dx.doi.org/10.1016/s0960-8966(01)00306-6DOI Listing
June 2002

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.

Neuromuscul Disord 2002 Jun;12(5):466-75

Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Hôpital Raymond-Poincaré, Garches, France.

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http://dx.doi.org/10.1016/s0960-8966(01)00331-5DOI Listing
June 2002

80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop. 12-13th May, 2000, Soestduinen, The Netherlands.

Neuromuscul Disord 2002 Jan;12(1):60-8

INSERM U523-Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1016/s0960-8966(01)00237-1DOI Listing
January 2002