Academic literature on the topic 'Maladies neuromusculaires – Génétique'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Maladies neuromusculaires – Génétique.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Journal articles on the topic "Maladies neuromusculaires – Génétique"
Barkats, Martine. "Amyotrophie spinale infantile." médecine/sciences 36, no. 2 (February 2020): 137–40. http://dx.doi.org/10.1051/medsci/2020010.
Full textUrtizberea, J. Andoni, Hadil Alrohaif, Sayed A. Gouda, and Laila Bastaki. "Quand tous les chemins mènent à l’Afrique…" médecine/sciences 35 (November 2019): 15–17. http://dx.doi.org/10.1051/medsci/2019237.
Full textUrtizberea, J. A. "Nouveaux outils diagnostiques et conseil génétique dans les maladies neuromusculaires." Journal de Réadaptation Médicale : Pratique et Formation en Médecine Physique et de Réadaptation 31, no. 3-4 (September 2011): 112–14. http://dx.doi.org/10.1016/j.jrm.2011.09.002.
Full textNga Brignol, Tuy. "Génétique : Apport du séquençage de nouvelle génération (NGS) dans le diagnostic des maladies neuromusculaires." médecine/sciences 32 (November 2016): 47–48. http://dx.doi.org/10.1051/medsci/201632s212.
Full textSaoudi, Amel, and Aurélie Goyenvalle. "Les approches thérapeutiques de modulation de l’épissage." médecine/sciences 37, no. 6-7 (June 2021): 625–31. http://dx.doi.org/10.1051/medsci/2021091.
Full textGargaun, Elena. "Les oligonucléotides anti-sens dans la SMA." médecine/sciences 35 (November 2019): 11–14. http://dx.doi.org/10.1051/medsci/2019181.
Full textLesca, G., E. Ollagnon-Roman, J. Lachanat, A. Dusser, P. Edery, M. Jeanpierre, and H. Plauchu. "Piège diagnostique et difficultés du conseil génétique dans une famille de patients porteurs de maladies neuromusculaires." Archives de Pédiatrie 8, no. 9 (September 2001): 957–60. http://dx.doi.org/10.1016/s0929-693x(01)00561-9.
Full textBraun, Serge. "Thérapies géniques de l’amyotrophie spinale infantile." médecine/sciences 36, no. 2 (February 2020): 141–46. http://dx.doi.org/10.1051/medsci/2020011.
Full textde Pontual, Laure, Geneviève Gourdon, and Stéphanie Tomé. "Identification de nouveaux facteurs entraînant des contractions CTG.CAG dans la dystrophie myotonique de type 1." médecine/sciences 37 (November 2021): 6–10. http://dx.doi.org/10.1051/medsci/2021182.
Full textUrtizberea, J. Andoni, and Ferroudja Daidj. "Combien de patients atteints de SMA en France ?" médecine/sciences 34 (November 2018): 32–34. http://dx.doi.org/10.1051/medsci/201834s209.
Full textDissertations / Theses on the topic "Maladies neuromusculaires – Génétique"
Maurer, Marie. "Caractérisation génétique et fonctionnelle d'affections canines, modèles de maladies neuromusculaires." Paris 6, 2010. http://www.theses.fr/2010PA066483.
Full textMouisel, Etienne. "Individualisation de l’entraînement physique chez la souris : influence du fonds génétique sur l’adaptation musculaire, applications aux maladies du motoneurone." Evry-Val d'Essonne, 2007. http://www.biblio.univ-evry.fr/theses/2007/2007EVRY0011.pdf.
Full textThe remarkable plasticity of skeletal muscle in response to physiological stress or diseases leads to consider physical exercise as a therapeutically approach. After validation of motor capacity model (Critical Speed, CS) in healthy mice, we used this index to define a short individualized training protocol. Surprisingly, the results showed improvements of CS and oxidative muscular capacity, both parameters being dependent on the genetic background. These data lead us to suggest that exercise could be regarded as a therapeutically approach in mouse models of neuromuscular disorders and in particular motor neuron diseases. After validating the CS as a reliable parameter to evaluate the motor capacities of mouse models of hereditary spastic paraplegia, spinal muscular atrophy and amyotrophic lateral sclerosis (ALS), we have shown that physical training was able to delay motor defect in a mouse model of ALS. This last observation opens exciting therapeutic prospects
Bomont, Pascale. "Localisation génétique de deux nouvelles formes d'ataxie autosomique récessive : Identification du gène de la neuropathie à axones géants et étude de la gigaxonine." Université Louis Pasteur (Strasbourg) (1971-2008), 2002. http://www.theses.fr/2002STR13117.
Full textFocused then on the study of a severe neurodegenerative disorder, called Giant Axonal Neuropathy (GAN), for which the locus has been identified on 16q24. 1. GAN corresponds to a generalized disorganization of the intermediate filaments network (IF), that, together with the microfilament (MF) and microtubule (MT) networks, constitute the cellular cytoskeleton. Indeed, abnormal accumulation of different classes of IFs has been reported in different cell types, including neurofilaments in the axons of patients. I participated to the reduction of the interval of interest and identified the GAN gene, by a bioinformatic approach, based on the analysis of the newly available sequences generated by the Human Genome Sequencing Project. The GAN gene encodes a protein we named gigaxonin, for which we identified 22 distinct mutations in patients. Gigaxonin contains BTB and Kelch repeat domains, but presents only low amino acid identity with other BTB/Kelch proteins. In a over-expression system, gigaxonin is a cytoplasmic protein that does not colocalize with any of the cytoskeletal networks. The study of primary fibroblasts derived from skin biopsies of patients, that present abnormal aggregation of the vimentin network, allowed to demonstrate that this disorganization i) affects only a weak proportion of the cells ; ii) is aggravated in non- dividing cells. Although MTs network is not altered in GAN fibroblasts, we found i) a correlation between the position of the aggregates and the MT organizing centers (MTOCs); ii) an increase of vimentin destabilization in the absence of MTs. This suggests that gigaxonin could be implicated in the cross-talk between the MTs and IFs networks
Hammer, Caroline. "Implications de l'épissage des ARNpré-messagers dans la pathogenèse des dystrophies myotoniques." Strasbourg, 2009. http://www.theses.fr/2009STRA6136.
Full textMyotonic dystrophies (DM) are the most common muscle dystrophies in adults. DM patients display a wide range of features, but there is currently no available cure to treat all of them. DM are caused by aberrant nuclear aggregates made of RNAs enriched in CUG repeats (DM1 and congenital forms) or CCUG repeats (DM2 form, the less severe one). These ggregates sequester the MBNL1 splicing factor, thus leading to an aberrant splicing of specific exons, ultimatly resulting in specific symptoms (myotonia, insulin resistance). I identified a novel misspliced event (aberrant splicing of Bin1 exon 11) in muscle cells of DM patients using exon arrays. Our functionnal and pathological studies suggest that the decrease in exon 11 expression is a primary event in the DM pathogenesis and may contribute to muscle weakness. I identified two novel protein components of the CCUG aggregates, the splicing factors Fox1 and Fox2. We propose an original model according to which Fox1 and Fox2 co-localizing with those aggregates may decrease MBNL1 sequestration. Thus, Fox1 and Fox2 would help to diminish the degree of splicing alterations of targets regulated by MBNL1, and would contribute to explain the lesser severity of DM2. Finally, I set up a cellular system mimicking DM1 that reproduces cardiac troponin T exon 5 missplicing observed in DM patients. This model may be useful to a high-throuput screening of chemical compounds aimed at identifying putative therapeutic molecules for DM patients
Vaeze, Chantal. "Le pied creux de l'enfant et la maladie de Charcot-Marie-Tooth : apport au diagnostic différentiel." Bordeaux 2, 1989. http://www.theses.fr/1989BOR25207.
Full textBuono, Suzie. "In vivo studies and therapeutic approaches in neuromuscular disorders : targeting dynamin 2 as a novel therapeutic strategy and support for clinical development." Electronic Thesis or Diss., Strasbourg, 2023. http://www.theses.fr/2023STRAJ016.
Full textCentronuclear myopathies (CNMs) are a group of congenital myopathies for which there is no treatment currently available. They are characterized by muscle weakness, atrophy of muscle fibers, and the presence of central nuclei in skeletal muscle fibers. Several forms of CNMs have been described. X-linked centronuclear myopathy (XLCNM), caused by mutations in the MTM1 gene encoding for myotubularin 1 (MTM1), is the most severe form. On the other hand, autosomal dominant centronuclear myopathy (ADCNM), is mainly caused by mutations in the DNM2 gene encoding for dynamin 2 (DNM2). My objectives were (1) to better understand the role of DNM2 in skeletal muscle and the impact of mutations, (2) to develop a therapeutic strategy that could be applicable in humans to treat XLCNM and ADCNM patients by reducing DNM2, and (3) to participate in projects for clinical development. These studies have shown that reducing DNM2 using antisense oligonucleotides or adeno-associated viruses improved the CNM phenotype in both mouse models (XLCNM and ADCNM). DNM2 has been validated as a therapeutic target, and the data led to the creation of Dynacure in 2016 in order to launch a clinical trial. In addition, another study identified myostatin as a blood biomarker that could be used to monitor and study the disease's status and applied in clinical trials
Fabbrizio, Eric. "Les molécules de la famille dystrophine : identifications et approches fonctionnelles." Montpellier 1, 1993. http://www.theses.fr/1993MON1T029.
Full textAubourg, Pauline. "Etude par clonage positionnel de deux maladies neuromusculaires rares : la myopathie liée à l'X avec excès d'autophagie (XMEA) et une fibrose congénitale des muscles extra-oculaires (CFEOM)." Aix-Marseille 2, 2004. http://www.theses.fr/2004AIX20667.
Full textThe aim of this work was to determine the gene involved in two rare neuromuscular diseases : the X-linked myopathy with excessive autophagy (XMEA) and the congenital fibrosis of extraocular muscles type 3 (CFEOM3). XMEA is transmitted as an X-linked recessive trait and is characterised by a slow progressive weakness of proximal muscles, affecting males. It is located on Xq28 chromosome. Towards identifie the gene, we used a candidate gene approach based on structural changes observed in myofibers. None of the 38 genes studied allowed to determine the critical gene. As well, no rearrangement in the MAGEA genes cluster could be identified. However, we have considerably reduced the number of candidate genes. Additionally, a skewed X-inactivation pattern was detected and suggested that the gene involved in this condition could be ubiquitously expressed rather than having a muscle specific expression. CFEOM3 is an autosomal dominant inherited disease, characterised by a limitation of vertically gaze and ptosis. This condition belongs to the recently designed group of congenital cranial dysinnervation disorders (CCDDs). Two loci of CFEOM3 were known, on chromosome 16 and 12 (with KIF21A mutations). Here, we cloned the breakpoints of a balanced reciprocal translocation t(2;13) in a three generations family, and defined a new CFEOM3 locus (FEOM4) on 13q12. 11. A transcript whose the intron contained several blocks of conserved non coding sequences was interrupted by this breakpoint. The functional importance of these sequences remains to be identified. Meanwhile, the characterisation of this novel CFEOM3 locus will allow to test the genetic segregation at this locus, in families previously shown to be unlinked to any of the known loci. Furthermore, the study of two chromosomal rearrangements, involved in two families of Moebius syndrome type 1 (MBS1) on 13q12 will define if MBS1 and CFEOM3 are allelic or not
Roques, Isabelle. "Etude de vingt observations d'amyotrophies spinales infantiles : aspects cliniques et génétiques." Bordeaux 2, 1999. http://www.theses.fr/1999BOR23019.
Full textCros, Nathalie. "Modifications de l'expression génique dans l'atrophie musculaire fonctionnelle." Montpellier 2, 1999. http://www.theses.fr/1999MON20109.
Full textBook chapters on the topic "Maladies neuromusculaires – Génétique"
Bonnichon, Delphine, and Audrey Bénézit. "Nouvelles thérapeutiques dans le champ des maladies neuromusculaires : quels enjeux ?" In Handicap et génétique, 157–73. Érès, 2020. http://dx.doi.org/10.3917/eres.gargi.2020.01.0157.
Full text