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List of works by Jean-François Desaphy

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

scientific article published on 12 August 2020

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

scientific article published on 6 June 2013

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.

scientific article

Actin sliding velocity on pure myosin isoforms from hindlimb unloaded mice

scientific article published on 30 June 2014

Adaptation of mouse skeletal muscle to long-term microgravity in the MDS mission

scientific article published on 28 March 2012

An olive oil-derived antioxidant mixture ameliorates the age-related decline of skeletal muscle function

scientific article published on 30 May 2013

Analysis by two-dimensional Blue Native/SDS-PAGE of membrane protein alterations in rat soleus muscle after hindlimb unloading.

scientific article published on 24 August 2010

Antioxidant treatment of hindlimb-unloaded mouse counteracts fiber type transition but not atrophy of disused muscles.

scientific article published on 29 January 2010

Blockade by cAMP of native sodium channels of adult rat skeletal muscle fibers

scientific article published on 01 December 1998

Change of chloride ion channel conductance is an early event of slow-to-fast fibre type transition during unloading-induced muscle disuse

scientific article

Characterization of Student Drinking Behaviors at the Beginning of the First Academic Year at One University in Southern Italy

scientific article published on 01 July 2019

ClC-1 chloride channels: state-of-the-art research and future challenges.

scientific article published on 27 April 2015

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

scientific article published on 12 June 2015

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

scientific journal article

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

scientific article published on 9 October 2017

Comparison of excitability parameters and sodium channel behavior of fast- and slow-twitch rat skeletal muscles for the study of the effects of hindlimb suspension, a model of hypogravity

scientific article published on 01 July 1998

Decrease in resting calcium and calcium entry associated with slow-to-fast transition in unloaded rat soleus muscle

scientific article published on 15 August 2003

Different ability of clenbuterol and salbutamol to block sodium channels predicts their therapeutic use in muscle excitability disorders

scientific article

Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block

scientific article

Disuse of rat muscle in vivo reduces protein kinase C activity controlling the sarcolemma chloride conductance

scientific article

Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy

scientific article published on 3 October 2012

Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field

scientific article published on 17 December 2020

Editorial: Recent Advances in Voltage-Gated Sodium Channels, their Pharmacology and Related Diseases

scientific article published on 08 February 2016

Effect of cyclic AMP on the calcium-dependent potassium conductances of rat Leydig cells

scientific article published on 01 June 1998

Effect of mexiletine on sea anemone toxin-induced non-inactivating sodium channels of rat skeletal muscle: a model of sodium channel myotonia

scientific article published on 01 May 1999

Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita.

scientific article published on 25 June 2014

Effect of microgravity on gene expression in mouse brain.

scientific article published on 14 August 2008

Effects of Benzothiazolamines on Voltage-Gated Sodium Channels.

scientific article published on 23 September 2017

Effects of Nandrolone in the Counteraction of Skeletal Muscle Atrophy in a Mouse Model of Muscle Disuse: Molecular Biology and Functional Evaluation

scientific article (publication date: 2015)

Effects of pleiotrophin overexpression on mouse skeletal muscles in normal loading and in actual and simulated microgravity.

scientific article

Elucidating the Contribution of Skeletal Muscle Ion Channels to Amyotrophic Lateral Sclerosis in search of new therapeutic options

scientific article published on 28 February 2019

Fiber type-related changes in rat skeletal muscle calcium homeostasis during aging and restoration by growth hormone

scientific article

From Riluzole to Dexpramipexole via Substituted-Benzothiazole Derivatives for Amyotrophic Lateral Sclerosis Disease Treatment: Case Studies

scientific article published on 22 July 2020

Functional alterations of mesenteric vascular bed, vas deferens and intestinal tracts in a rat hindlimb unloading model of microgravity.

scientific article published in April 2004

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

scientific article published on 8 August 2013

Grand challenge for ion channels: an underexploited resource for therapeutics.

scientific article published on 20 August 2010

Growth hormone secretagogues modulate the electrical and contractile properties of rat skeletal muscle through a ghrelin-specific receptor

scientific article

Hydroxylated analogs of mexiletine as tools for structural-requirements investigation of the sodium channel blocking activity

scientific article

In vivo evaluation of antimyotonic efficacy of β-adrenergic drugs in a rat model of myotonia

scientific article published on 18 September 2012

In vivo longitudinal study of rodent skeletal muscle atrophy using ultrasonography.

scientific article

Increased hindrance on the chiral carbon atom of mexiletine enhances the block of rat skeletal muscle Na+ channels in a model of myotonia induced by ATX

scientific article published on November 1999

Increased sodium channel use-dependent inhibition by a new potent analogue of tocainide greatly enhances in vivo antimyotonic activity.

scientific article published on 12 October 2016

Inhibition of skeletal muscle sodium currents by mexiletine analogues: specific hydrophobic interactions rather than lipophilia per se account for drug therapeutic profile

scientific article published on 25 January 2003

Inhibition of voltage-gated sodium channels by sumatriptan bioisosteres

scientific article published on 24 July 2015

Inhibitory effect of internal sodium and Hepes on the voltage-dependent potassium conductance of rat Leydig cells

scientific article published on 01 November 1996

Involvement of voltage-gated sodium channels blockade in the analgesic effects of orphenadrine.

scientific article

Ion channel pharmacology.

scientific article

Ion channels in muscle and cardiac hereditary diseases: from gene dysfunction to pharmacological therapy

article

Is oxidative stress a cause or consequence of disuse muscle atrophy in mice? A proteomic approach in hindlimb-unloaded mice

scientific article published on 9 October 2009

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

scientific article published on 20 May 2020

Mapping ligand binding pockets in chloride ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid.

scientific article published on 3 March 2018

Modulation of K+ conductances by Ca2+ and human chorionic gonadotrophin in Leydig cells from mature rat testis

scientific article published on 01 August 1996

Molecular Insights into the Local Anesthetic Receptor within Voltage-Gated Sodium Channels Using Hydroxylated Analogs of Mexiletine.

scientific article published on 15 February 2012

Molecular determinants of mexiletine structure for potent and use-dependent block of skeletal muscle sodium channels

scientific article published on 01 February 2000

Molecular dissection of lubeluzole use-dependent block of voltage-gated sodium channels discloses new therapeutic potentials

scientific article published on 21 November 2012

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

scientific article published on 20 June 2016

Muscle loading modulates aquaporin-4 expression in skeletal muscle

scientific article published on 01 May 2001

N-aryl-2,6-dimethylbenzamides, a new generation of tocainide analogues as blockers of skeletal muscle voltage-gated sodium channels

scientific article

New potent mexiletine and tocainide analogues evaluated in vivo and in vitro as antimyotonic agents on the myotonic ADR mouse

scientific article

Optimal requirements for high affinity and use-dependent block of skeletal muscle sodium channel by N-benzyl analogs of tocainide-like compounds

scientific article published in October 2003

Paracrine effects of IGF-1 overexpression on the functional decline due to skeletal muscle disuse: molecular and functional evaluation in hindlimb unloaded MLC/mIgf-1 transgenic mice

scientific article

Partial recovery of skeletal muscle sodium channel properties in aged rats chronically treated with growth hormone or the GH-secretagogue hexarelin ⬇️

scientific article published on August 1, 1998

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

scientific article published on 04 September 2020

Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate

scientific article published on 03 January 2019

Potential benefits of taurine in the prevention of skeletal muscle impairment induced by disuse in the hindlimb-unloaded rat

scientific article published on 11 October 2011

Potential targets for skeletal muscle impairment by hypogravity: basic characterization of resting ionic conductances and mechanical threshold of rat fast- and slow-twitch muscle fibers

scientific article published on 01 July 1998

Preclinical evaluation of marketed sodium channel blockers in a rat model of myotonia discloses promising antimyotonic drugs

scientific article published on 5 March 2014

Privileged scaffold-based design to identify a novel drug-like 5-HT7 receptor-preferring agonist to target Fragile X syndrome

scientific article published on 04 May 2020

Protein kinase C theta (PKCθ) modulates the ClC-1 chloride channel activity and skeletal muscle phenotype: a biophysical and gene expression study in mouse models lacking the PKCθ.

scientific article published on 20 March 2014

Recent advances in voltage-gated sodium channels, their pharmacology, and related diseases.

scientific article

Recovery of the soleus muscle after short- and long-term disuse induced by hindlimb unloading: effects on the electrical properties and myosin heavy chain profile

scientific article published on 01 March 2005

Redox homeostasis, oxidative stress and disuse muscle atrophy.

scientific article published on 14 February 2011

Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study.

scientific article published on 27 July 2017

Safinamide's potential in treating nondystrophic myotonias: Inhibition of skeletal muscle voltage-gated sodium channels and skeletal muscle hyperexcitability in vitro and in vivo

scientific article published on 20 March 2020

Skeletal muscle ClC-1 chloride channels in health and diseases

scientific article published on 02 May 2020

Skeletal muscle disuse induces fibre type-dependent enhancement of Na(+) channel expression.

scientific article

Statin-induced myotoxicity is exacerbated by aging: A biophysical and molecular biology study in rats treated with atorvastatin

scientific article published in July 2016

Stereospecific synthesis of "para-hydroxymexiletine" and sodium channel blocking activity evaluation

scientific article

Swelling and cAMP on hyperpolarization-activated Cl- conductance in rat Leydig cells

scientific article published on 01 July 1996

Synthesis and toxicopharmacological evaluation of m-hydroxymexiletine, the first metabolite of mexiletine more potent than the parent compound on voltage-gated sodium channels

scientific article

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine

scientific article published on 07 December 2020

Taurine and skeletal muscle disorders

scientific article published on January 2004

Taurine and skeletal muscle ion channels.

scientific article

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel

scientific article published on 04 July 2018

Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery

scientific article

Therapeutic approaches to ion channel diseases

scientific article

Toward precision medicine in myotonic syndromes.

scientific article published on 10 February 2017

Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation

scientific article

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