Michel Fardeau

researcher

DBpedia resource is: http://dbpedia.org/resource/Michel_Fardeau

Abstract is: Michel Fardeau, born on 24 October 1929 in Paris 12th arrondissement, is a medical researcher in medical pathology, pioneering founder in France of myology, a medical discipline treating diseases of the neuromuscular system. He was also a full professor at the Conservatoire National des Arts et Métiers in a chair dedicated to the social integration of disabled people.

Born 1929-10-24 in 12th arrondissement of Paris (Q171689)

Michel Fardeau is …
instance of (P31):
humanQ5

External links are
P5463AE member IDFardeau_Michel
P268Bibliothèque nationale de France ID11902250f
P973described at URLhttps://www.inserm.fr/portrait/histoire/michel-fardeau/
P6282French Academy of Sciences member IDF/michel-fardeau
P2671Google Knowledge Graph ID/g/11hdvdsnzt
P269IdRef ID026858045
P213ISNI0000000000771287
P11249KBR person ID14712850
P244Library of Congress authority IDn2017031550
P1006Nationale Thesaurus voor Auteursnamen ID08797536X
P214VIAF ID19677223

P166award receivedCNRS bronze medalQ3332320
P40childJean-Marie FardeauQ3167662
P27country of citizenshipFranceQ142
P108employerFrench National Institute of Health and Medical ResearchQ1474517
P101field of workmyologyQ674407
P735given nameMichelQ14626626
MichelQ14626626
P1412languages spoken, written or signedFrenchQ150
P463member ofAcademia EuropaeaQ337234
P106occupationphysicianQ39631
researcherQ1650915
P39position heldDirector of Research at CNRSQ3029430
P21sex or gendermaleQ6581097
P26spouseMichèle FardeauQ124807497

Reverse relations

author (P50)
Q95384925Q95384925
Q46196931"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
Q80859056121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7-9 November 2003, Naarden, The Netherlands
Q62672143156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands
Q7731616980th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop. 12-13th May, 2000, Soestduinen, The Netherlands
Q34551830A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
Q39003495A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene
Q91284853ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
Q50008362About the technique of muscle biopsy (IV). The advent of histochemistry and cytoenzymology in the analysis of muscle biopsies. A short and personal historical overview
Q42466262Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Q45869519Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Q74180066Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function
Q46943897Assessment of a symptomatic Duchenne muscular dystrophy carrier 20 years after myoblast transplantation from her asymptomatic identical twin sister
Q34238168Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene
Q48080069C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy
Q24305076COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
Q48595183Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
Q48012937Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia
Q28115358Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
Q92910346Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Q47215034Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Q79554774Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies
Q28854559Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy
Q60472938Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia
Q40635064Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies. Part I: rationale.
Q45889007Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies. Part II: clinical protocol
Q45889011Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies. Part III. Ethical considerations
Q53512507Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.
Q85122578De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins
Q53311250Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands.
Q33977996Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Q38102239Diagnostic workup for neuromuscular diseases
Q45061374Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
Q39067296Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Q44560638Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia
Q81433406Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
Q75382910EMG and nerve conduction studies in children with congenital muscular dystrophy
Q44363466Effect of 1-year oral administration of dehydroepiandrosterone to 60- to 80-year-old individuals on muscle function and cross-sectional area: a double-blind placebo-controlled trial.
Q44682405Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.
Q39760999Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.
Q44551622Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency
Q37407306Extensive morphological and immunohistochemical characterization in myotubular myopathy.
Q89166849Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort
Q74180058Glucocorticoid 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
Q60473840Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function
Q37301198Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
Q45116927MUSK, a new target for mutations causing congenital myasthenic syndrome
Q34528684Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Q48120299Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Q28277269Mutations in dynamin 2 cause dominant centronuclear myopathy
Q22009039Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
Q24617292Mutations 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
Q38102244Myofibrillar myopathies.
Q42967735Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity
Q28247833Myotilinopathy in a family with late onset myopathy
Q36759458Natural history of LGMD2A for delineating outcome measures in clinical trials
Q87342675Neuromuscular disease: muscle
Q41956578PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling
Q46662240Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene
Q46767075Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome
Q40459778Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.
Q37450661Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
Q54728720Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.
Q40457545Protein 4.1R expression in normal and dystrophic skeletal muscle.
Q28115568RETRACTED: VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification
Q38950857Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Q58036254Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification
Q64044263Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia
Q48595029Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency
Q37555776Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders
Q83237564Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation
Q37870328Telethonin-deficiency initially presenting as a congenital muscular dystrophy.
Q98470313The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series
Q28304113The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13
Q34180176Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency
Q28283153VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
Q54647465[About a phase I gene therapy clinical trial with a full-length dystrophin gene-plasmid in Duchenne/Becker muscular dystrophy].
Q53285951[About the technique of muscle biopsy - A historical flash-back on the technique of muscle biopsie].
Q85890711[Congenital myasthenic syndromes; French experience]
Q73001470[From clinical medicine to molecular genetics: the new outlook of hereditary muscular dystrophies]
Q80153585[Historical review on the researches on muscular dystrophies]

Q97367391Société française de myologiefounded byP112
Q3167662Jean-Marie FardeaufatherP22
Q124807497Michèle FardeauspouseP26

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Egyptian Arabic (arz / Q29919)ميشيل فارديوwikipedia
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