Abstract: A pharmaceutical composition including at least one epigenome-modifying compound, for a use thereof in the treatment of genetic muscular diseases linked to a conformational disorder of at least one protein, said disorder causing the cellular degradation of the protein.

Abstract: The invention relates to a method for prognosing, diagnosing, determining the risk, and monitoring the evolution of a muscular dystrophy. It also relates to a method for evaluating the efficacy of a treatment of a muscular dystrophy in a subject in need thereof.

Abstract: The present invention relates to an expression system for systemic administration comprising a sequence encoding a protein, said expression system allowing: the expression at a therapeutically acceptable level of the protein in the target tissues including skeletal muscles and/or the peripheral nervous tissue; and the expression at toxically acceptable level of the protein in tissues other than the target tissues, especially in the heart.

Abstract: The present invention provides a method for determining all the molecular causes of Inherited Neuromuscular Disorders comprising determining a number of copy number variation(s), and/or determining a number of point mutation(s) on a physiological sample comprising a genome of a subject.

Abstract: A pharmaceutical composition including at least one epigenome-modifying compound, for a use thereof in the treatment of genetic muscular diseases linked to a conformational disorder of at least one protein, said disorder causing the cellular degradation of the protein.

Abstract: Inhibitors of the endoplasmic reticulum associated degradation (ERAD) pathway, particularly inhibitors of mannosidase I, are used for the preparation of a medicinal product intended to treat sarcoglycanopathies.

Abstract: A composition comprising a calpain-3 inhibitor for treating muscular dystrophies and cardiomyopathies, in particular tibial muscular dystrophy (TMD).

Abstract: Inhibitors of the endoplasmic reticulum associated degradation (ERAD) pathway, particularly inhibitors of mannosidase I, are used for the preparation of a medicinal product intended to treat sarcoglycanopathies.

Abstract: Inhibitors of the endoplasmic reticulum associated degradation (ERAD) pathway, particularly inhibitors of mannosidase I, are used to treat sarcoglycanopathies.

Abstract: The present invention relates to a method for predicting the responsiveness of a patient to a treatment with an anti-CD20 antibody, said method comprising measuring the level of miR-125b expression in a biological sample obtained from said patient. The present invention also relates to a method for diagnosing rheumatoid arthritis in a patient, said method comprising measuring the level of miR-125b expression in a biological sample obtained from said patient.

Abstract: The present invention relates to a composition comprising: a first adeno-associated viral (AAV) vector comprising: i) a 5?ITR (Inverted Terminal Repeat) sequence of AAV; ii) a portion of gene placed under the control of a promoter; iii) a sequence comprising a splice donor site; iv) a 3?ITR sequence of AAV; and/or a second adeno-associated viral (AAV) vector comprising; v) a 5?ITR (Inverted Terminal Repeat) sequence of AAV; vi) a sequence comprising a splice acceptor site; vii) a portion of gene; viii) a 3?ITR sequence of AAV. The combination of the portions of gene carried by the first and second AAV vectors comprises an open reading frame which encodes a functional dysferlin. In addition, the combination of the sequence comprising the splice donor site and the sequence comprising the splice acceptor site contains all the elements necessary for the splicing, advantageously derived from a natural intron of the dysferlin gene.

Abstract: Inhibitors of the endoplasmic reticulum associated degradation (ERAD) pathway, particularly inhibitors of mannosidase I, are used for the preparation of a medicinal product intended to treat sarcoglycanopathies.

Abstract: A nucleic acid sequence comprising: 1) the sequence represented in FIG. 8; or 2) the sequence represented in FIG. 2; or 3) a part of the sequence of FIG. 2 with the proviso that it is able to code for a protein having a calcium dependant protease activity involved in a LGMD2; or 4) a sequence derived from a sequence defined in 1), 2) or 3) by substitution, deletion or addition of one or more nucleotides with the proviso that said sequences still codes for said protease.

Abstract: Peptide coupled with at least one fluorogenic or colorogenic reporter molecule, characterized in that it contains at least one amino acid sequence able to be cleaved by calpain 3.

Abstract: The invention relates to a pharmaceutical composition for rectal administration which comprises 1,2,3,9-tetrahydro-9-methyl-3-?(2-methyl-1H-imidazol-1-yl)- methyl!-4H-carbazol-4-one in the form of its free base or a pharmaceutically acceptable solvate thereof as active ingredient, together with one or more pharmaceutically acceptable carriers or excipients. Methods for the manufacture of such compositions and for their use in the treatment of conditions mediated through the action of 5-hydroxytryptamine at 5-HT.sub.3 receptors are also described.

Abstract: The present invention relates to a pharmaceutical composition for rectal administration in solid dosage form which comprises a compound acting as a 5HT-1 like receptor agonist in the form of its free base or a physiologically acceptable hard fat base carrier having a hydroxyl value of more than 15 in the method for the treament of a mammal suffering from a susceptible to conditions associated with cephalic pain.