Bibliographies thématiques / Myotonic distrophy

Littérature scientifique sur le sujet « Myotonic distrophy »

Auteur : Grafiati
Publié le 11 mars 2023

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Articles de revues sur le sujet "Myotonic distrophy"

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Calderon, Maria J., Pilar Manrique, Rosario Gonzalez, JC Garcia-Monco et I. Zabalza. « Multiple pilomatricomas associated with myotonic distrophy ». Journal of the European Academy of Dermatology and Venereology 5, no 1 (août 1995) : 51–53. http://dx.doi.org/10.1111/j.1468-3083.1995.tb00436.x.

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Ellis, J. R., et M. S. Tamler. « ALL THAT WAXES AND WANES IS NOT MYOTONIC DISTROPHY ». American Journal of Physical Medicine & ; Rehabilitation 74, no 2 (mars 1995) : 172. http://dx.doi.org/10.1097/00002060-199503000-00023.

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Manfrè, L., A. Banco, M. Midiri, G. Sparacia, S. Pappalardo, I. Fierro, A. Mangiameli et M. De Maria. « MRI Findings and Evoked Potentials in Patients with Myotonic Dystrophy versus Facioscapulohumeral Dystrophy ». Rivista di Neuroradiologia 10, no 4 (août 1997) : 437–41. http://dx.doi.org/10.1177/197140099701000407.

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Evoked potentials recordings have been applied to many neurological disorders, localizing the lesions in the central nervous system (CNS) pathways. Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive degenerative disease involving the muscles of the face and shoulders. On the contrary, myotonic distrophy (MD), the most frequent and severe myotonic disease, is caracterized by myotonia (delay of relaxation after voluntary contraction), muscular atrophy and dystrophic changes in non-muscular tissues. In the present investigation, patients with clinically and electromyographically verified FSHD and MD were examined using somatosensory evoked potentials (SEP) and brainstem auditory evoked responses (BAEP). The main purpose of the investigation was to determine whether impaired central conduction in patients with MD or FSHD could be associated to specific cerebral abnormalities detected by MRI. Nine patients with FSHD (7 males, 2 females) 22 to 43 y.o. (mean age 35.11 +/– 9.32 y.o.) and ten patients with MD (8 males, 2 females), aged 24 to 48 (mean age 36.27 +/– 11.80 y.o.), were examined. Our results suggest that patients with FSHD may present subclinical involvement of the WM on MRI examinations and of the afferent sensory and auditory system at SEP/BAEP analysis irrespective of age, duration or clinical severity of the disease.
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BARTOLI, C., M. BONGIORNI, A. DICORI, V. DIBELLO, M. DONNE, E. SOLDATI, G. SICILIANO et A. BARSOTTI. « 1163 Contribution of myocardial performance index to assessment of left ventricular function in patients with type-1 myotonic distrophy ». European Journal of Echocardiography 7 (décembre 2006) : S206—S207. http://dx.doi.org/10.1016/s1525-2167(06)60768-3.

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Magaña, J. J., P. Cortés-Reynosa, R. Escobar-Cedillo, R. Gómez, N. Leyva-García et B. Cisneros. « Distribution of CTG repeats at the DMPK gene in myotonic distrophy patients and healthy individuals from the Mexican population ». Molecular Biology Reports 38, no 2 (16 juillet 2010) : 1341–46. http://dx.doi.org/10.1007/s11033-010-0235-7.

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DICORI, A., V. DIBELLO, M. BONGIORNI, C. BARTOLI, E. TALINI, M. DONNE, G. SICILIANO et A. BARSOTTI. « 1180 Integrated Backscatter Analysis detects early systolic functional and structural left ventricular alterations in patients with type-1 myotonic distrophy ». European Journal of Echocardiography 7 (décembre 2006) : S210—S211. http://dx.doi.org/10.1016/s1525-2167(06)60785-3.

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Ballesteros, Guillermo Gutiérrez, Francisco José Bermúdez Jiménez et Juan Jiménez-Jáimez. « Mexiletine in Myotonic Distrophy : beware of ventricular arrhythmias ! » Heart Rhythm, décembre 2020. http://dx.doi.org/10.1016/j.hrthm.2020.11.031.

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Vio, Riccardo, Alessandro Zorzi, Domenico Corrado et Chiara Calore. « Author's reply to Mexiletine in Myotonic Distrophy : beware of ventricular arrhythmias ! » Heart Rhythm, décembre 2020. http://dx.doi.org/10.1016/j.hrthm.2020.12.013.

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Catalano, Alessia, Carlo Franchini et Alessia Carocci. « Voltage Gated Sodium Channel Blockers : Synthesis of Mexiletine Analogues and Homologues ». Current Medicinal Chemistry 27 (4 mai 2020). http://dx.doi.org/10.2174/0929867327666200504080530.

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: Mexiletine is an antiarrhythmic drug belonging to IB class, acting as sodium channel blocker. Besides its well-known activity on arrhythmias, its usefulness in the treatment of myotonia, myotonic distrophy and amyotrophic lateral sclerosis is now widely recognized. Nevertheless, it has been retired from the market in several countries because of its undesired effects. Thus, several papers were reported in the last years about analogues and homologues of mexiletine being endowed with a wider therapeutic ratio and a more selectivity of action. Some of them showed sodium channel blocking activity higher than the parent compound. It is noteworthy that mexiletine is used in therapy as a racemate even though a difference in the activities of the two enantiomers were widely demonstrated, with (–)-(R)-enantiomer being more active: this finding led several research groups to study mexiletine and its analogues and homologues in their optically active forms. This review summarizes the different synthetic routes used to obtain these compounds. They could represent an interesting starting point to new mexiletine-like compounds without common side effects related to the use of mexiletine.
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Thèses sur le sujet "Myotonic distrophy"

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PERFETTI, ALESSANDRA. « SKELETAL MUSCLE AND CIRCULATING MICRORNAS IN MYOTONIC DISTROPHY TYPE 1 ». Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/481442.

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In Myotonic Dystrophy type 1 (DM1), the accumulation of transcripts containing CUG triplet expansions leads to the dysregulation of multiple cellular processes, including RNA splicing and microRNA (miRNAs) synthesis. This project aims to find functional miRNAs that are specifically deregulated in muscles of DM1 patients, and to identify circulating miRNAs in the plasma of DM1 patients that could be used as biomarkers of DM1 disease progression. Preliminary studies had previously identified a group of miRNAs that were deregulated in the plasma or serum of small groups of DM1 patients. In this work, very stringent selection and normalization criteria were adopted to validate or disprove these miRNAs in 103 DM1 patients and 111 matched controls. We found that 8 miRNAs out of 12 were significantly deregulated in DM1 patients and that the levels of these miRNAs discriminated DM1 from controls significantly. Next, we determined a “DM1-miRNAs score”, calculated averaging the values of all 8 miRNAs, and a “miR-133a/b score” obtained averaging the levels of the two miR-133 members, both displaying a good ability to discriminate between DM1 and control subjects. Additionally, both scores correlated with muscle strength and Creatine Kinase levels. Moreover, 7 out of 8 miRNAs were found deregulated also in 30 patient affected by Myotonic Dystrophy type 2. The second aim of this work was the identification of miRNA/target mRNAs couples deregulated in skeletal muscles of DM1 patients. To this aim, the RNAs associated to RISC effector complex were analyzed from muscle biopsies of DM1 patients and healthy individuals and RNA-Sequencing was used to identify RISC-associated small RNAs (miRNAs) and long RNAs (mRNAs). A number of small and long RNAs differentially expressed in RISC complexes of DM1 vs healthy controls were identified, that showed statistically significant modulation. Next, using target prediction algorithms, miRNA-mRNA couples deregulated in DM1 were identified. RNA-sequencing data confirmed in independent qPCR assays, analyzing larger groups of DM1 patients and controls. Moreover, using myogenic cell models derived from dermal fibroblasts of DM1 patients and healthy individuals, a subset of these interactions was confirmed, validating this in vitro system for future functional studies. In conclusion, this study identified relevant tissue miRNAs aberrantly expressed in DM1 and validated plasma miRNAs as potential DM1 biomarkers.
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Ang, Caroline Wan-Yin. « The myotonic distrophy kinase 3' untranslated region and its effect on gene expression ». Thesis, University of Ottawa (Canada), 1995. http://hdl.handle.net/10393/9785.

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A mutation occurring outside the coding region in the 3$\sp\prime$UTR or the myotonic dystrophy kinase (DMK) suggests the formation of a defective gene product may not be involved in the disease process. Instead, the effect of the repeat expansion may be directed toward gene regulation or expression. In this study, investigation of the possibility or cellular factors capable of directly binding DNA or RNA revealed the presence of at least two factors in cytosolic extract. Mobility shift assays were done using an RNA probe comprising a portion of the 3$\sp\prime$UTR containing the repeat region and approximately 150bp of upstream and downstream flanking sequence. Probes with repeat sizes of 13 repeats, 45 repeats, and 90 repeats did not appear to vary greatly in gel mobility complex size. Clones using the CAT reporter gene (Gorman et al., 1982) with the DMK 3$\sp\prime$UTR containing repeat sizes from 5 to 90 repeats were constructed. Transient transfection of the constructs into TE32 cells and assay for CAT gene expression revealed increased CAT activity correlating with increasing repeat size. Deletion of portions of the 3$\sp\prime$UTR sequence, either up- or downstream of the repeat region abrogated any CAT activity from constructs containing these variants. The complete inactivity of the deletion clones suggests the repeat sequence must be presented in the context of the full 3$\sp\prime$UTR to impose any regulatory control. Taken together, these data suggest a role for the DMK 3$\sp\prime$UTR in the regulation of gene expression. (Abstract shortened by UMI.)
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Mosbach, Valentine. « Contraction de répétitions de trinucléotides par induction ciblée d'une cassure double brin ». Thesis, Paris 6, 2017. http://www.theses.fr/2017PA066040.

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Les répétitions de trinucléotides sont des séquences répétées en tandem pouvant subir, chez l'homme, de larges expansions à l'origine de nombreuses maladies génétiques. La dystrophie myotonique de type 1 (DM1) est due à l'expansion d'une répétition CTG en 3'UTR du gène DMPK. Les mécanismes d'instabilités des répétitions, peu connus, reposeraient sur leur capacité à former des structures secondaires constituant un obstacle aux mécanismes impliquant une synthèse d'ADN. Nous avons montré qu'une TALEN induisant une cassure double brin dans les répétitions CTG à l'origine de la DM1 insérées chez la levure Saccharomyces cerevisiae permettait de manière efficace et spécifique d'aboutir après réparation à leur contraction. Le mécanisme de réparation est dépendant uniquement de deux gènes, RAD50 et RAD52, suggérant la formation de structures aux extrémités de la DSB devant être retirées pour initier la réparation, suivis d'une réaction de SSA entre les répétitions aboutissant à leur contraction. L'efficacité et spécificité d'un système CRISPR-Cas9 à contracter ces répétitions chez la levure ont été comparées à la TALEN. L'induction de CRISPR-Cas9 n'aboutit pas à la contraction des répétitions mais à des réarrangements chromosomiques suggérant un manque de spécificité et un mécanisme de réparation différent de celui de la TALEN. Enfin, nous avons étudié si ces nucléases peuvent contracter ces répétitions CTG à des tailles non pathologiques dans des cellules de mammifères. L'induction de la TALEN dans des cellules de souris transgéniques DM1, puis dans des fibroblastes humains de patients DM1 montre des résultats préliminaires encourageant de contraction des répétitions
Trinucleotides repeats are a specific class of microsatellites whose large expansions are responsible for many human neurological disorders. Myotonic dystrophy type 1 (DM1) is due to an expansion of CTG repeats in the 3’UTR of DMPK gene, which can reach thousands of repeats. Molecular mechanisms leading to these large expansions are poorly understood but in vitro studies have shown the capacity of these repeats to form secondary structures, which probably interfere with mechanisms involving DNA synthesis. We shown that a TALEN used to induce double-strand break (DSB) in DM1 CTG repeats integrated in the yeast Saccharomyces cerevisiae is specific and leads to highly efficient repeat contractions after repair. Mechanism involved in TALEN-induced DSB only depends of RAD50 and RAD52 genes, suggesting the formation of secondary structures at DSB ends that need to be removed for repair initiation, followed by an intramolecular recombinaison repair such as SSA between repeats leading to their contraction. We compared the efficiency and specificity of a CRISPR-Cas9 and the TALEN to contract CTG repeats in yeast. Surprisingly, CRISPR-Cas9 induction do not lead to repeat contraction but to chromosomal rearrangement, suggesting a lack of specificity and a different repair mechanism than with the TALEN. At last, we studied whether these nucleases could contract CTG repeats to a non-pathological length in mammalian cells. Finally, TALEN induction in DM1 transgenic mice cells, and in DM1 human fibroblasts show promising repeat contractions
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Flavia, Carton. « Biocompatible nanocarriers for delivering drugs to skeletal muscle cells : a therapeutic option for myotonic dystrophy ? » Doctoral thesis, 2019. http://hdl.handle.net/11562/994651.

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Myotonic dystrophy (DM) represents a genetic disorder characterized by progressive dysfunction of multiple organs and tissues (e.g. skeletal, cardiac, and smooth muscle; the central nervous systems) among which the most severely affected is the skeletal muscle; this condition leads patients to a progressive muscle weakness, wasting and myotonia. The molecular pathogenetic mechanism of DM type 1 (or Steinert’s) disease is the expansion of a (CTG)n triplet in 3’ UTR region of the Dystrophia Myotonica Protein Kinase (DMPK) gene, while the (CCTG)n quadruplet expansion in the first intron of the cellular Nucleic Acid Binding Protein/Zinc Finger 9 (CNBP/ZNF9) is responsible for DM type 2 (previously named “proximal Myotonic Myopathy” or “PROMM”). These expanded repeats are transcribed into toxic RNA that accumulates in nuclear RNA-protein aggregates (called foci), and lead to a general splicing alteration. The main problem of DM pathologies is that no therapies are currently available, and the commonly used treatments are administered to only manage symptoms. At present, the pharmaceutical research is screening small molecules such as pentamidine (PTM) able to repair the DM-associated splicing defects: PTM is an antimicrobial and antitumor compound that can mitigate the DM missplicing, but has limited applicability in humans due to its high systemic toxicity. To overcome these limitations, the administration via biocompatible nanoparticles (NPs) may represent a suitable approach, improving targeted delivery of the therapeutic drug and decreasing its systemic toxicity. Therefore, the main goal of the present experimental thesis was to set up an innovative experimental therapeutic strategy for DM based on biocompatible NPs loaded with PTM. To this aim, different types of NPs potentially suitable for drug delivery [liposomes, poly(lactic-co-glycolic acid) (PLGA) NPs, mesoporous silica NPs] were tested for biocompatibility in vitro on stabilized tumor cell lines and cultured primary human muscle cells. Conventional and confocal fluorescence microscopy and transmission electron microscopy allowed elucidating the mechanisms of NP internalization, intracellular distribution, fate and degradation. The tested NPs proved to be biocompatible for all the cell types investigated, although muscle-derived cells (especially the differentiated myotubes) showed lower internalization capability than cancer cells. In addition, novel hyaluronic acid-based nanocomplexes for hydrophilic drug encapsulation were synthesized in collaboration with the University of Lyon; these NPs proved to be biocompatible for both cancer and cultured muscle cells, and to efficiently deliver PTM to cancer cells; the effects of PTM-loaded NPs on muscle cells are currently under investigation. Finally, in the attempt to fill the gap between the conventional cell cultures and the organ complexity in vivo, an in vitro fluid dynamic system was set up to improve the preservation of explanted muscles and was then used for monitoring the biodistribution of NPs in this organ. Preliminary results revealed that PLGA NPs, which are easily internalized by cultured muscle cells, hardly enter the myofibers in the whole muscle since most of them accumulate in the connective tissue; consequently, modifications of the NP surface are in progress to improve targeting to and uptake by the muscle fibers.
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Actes de conférences sur le sujet "Myotonic distrophy"

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Lopez Delgado, Cristina, Eva Farrero Muñoz, Ana Córdoba Izquierdo, Esther Giró Bulta, Lluís Mateu Gómez, Jordi Dorca Sargatal et Enric Prats Soro. « Evolution and survival of patients with Myotonic Distrophy and non-invasive ventilation ». Dans ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.pa2136.

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