Bibliografias temáticas / Myotonia

Índice

  1. Artigos de revistas
  2. Teses / dissertações
  3. Livros
  4. Capítulos de livros
  5. Trabalhos de conferências
  6. Relatórios de organizações

Literatura científica selecionada sobre o tema "Myotonia"

Autor: Grafiati
Publicado: 4 de junho de 2021
Última modificação: 5 de março de 2023

Crie uma referência precisa em APA, MLA, Chicago, Harvard, e outros estilos

Selecione um tipo de fonte:

Consulte a lista de atuais artigos, livros, teses, anais de congressos e outras fontes científicas relevantes para o tema "Myotonia".

Ao lado de cada fonte na lista de referências, há um botão "Adicionar à bibliografia". Clique e geraremos automaticamente a citação bibliográfica do trabalho escolhido no estilo de citação de que você precisa: APA, MLA, Harvard, Chicago, Vancouver, etc.

Você também pode baixar o texto completo da publicação científica em formato .pdf e ler o resumo do trabalho online se estiver presente nos metadados.

Artigos de revistas sobre o assunto "Myotonia"

1

Bretag, Allan H. "Myotonic diseases since Asmus Julius Thomas Thomsen (1815–1896) and Peter Emil Becker (1908–2000)". Proceedings of the Royal Society of Victoria 127, n.º 1 (2015): 59. http://dx.doi.org/10.1071/rs15005.

Texto completo da fonte
Resumo:
Julius Thomsen first published his account of myotonia (an unusual muscle stiffness disorder) in himself and his family in 1876. By November 1971, Peter Becker was already famous for his eponymous Becker muscular dystrophy when he came to the Second International Congress on Muscle Diseases, in Perth. There, he presented an extensive study of myotonia, recognising a recessively inherited disease (now known as Becker’s recessive generalised myotonia), distinct from Thomsen’s myotonia congenita and clearly distinguishable from Steinert’s myotonic dystrophy, both dominantly inherited. Peter Becker, Shirley Bryant, Reinhardt Rüdel and Allan Bretag all met in Perth, with mutual interests in myotonia. They subsequently maintained contact while Bretag undertook research in Germany in 1972–1973 and 1977. Later, in 1978, Bretag worked with Bryant’s myotonic goats in Cincinnati. His research on Thomsen’s and Becker’s myotonias has since progressed to confirmation of Bryant’s chloride hypothesis through a molecular genetic study of the muscle chloride channel, CLC -1. This has culminated in several collaborative papers with German colleagues and, finally, in a mechanistic description of how the CLC -1 channel is gated.
Estilos ABNT, Harvard, Vancouver, APA, etc.
2

Finsterer, Josef, Georg Safoschnik e Martina Witsch-Baumgartner. "Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia". SAGE Open Medical Case Reports 5 (1 de janeiro de 2017): 2050313X1770302. http://dx.doi.org/10.1177/2050313x17703021.

Texto completo da fonte
Resumo:
Objectives: A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. Methods: Case report. Results: The patient is a 54-year-old female sport teacher who developed myotonia of the distal upper limbs at the age of 32 years. Over the following 22 years, myotonia spreaded to the entire musculature. Myotonia did not prevent her from doing her job and from marathoning and improved with continuous exercise. Additionally, she had developed hypothyroidism, ovarial cysts, incipient cataract, motor neuropathy, hepatopathy, leukopenia, and mild hyper-CK-emia. A heterozygous CCTG-repeat expansion of 500–9500 was found in the CNBP/ZNF9 gene. At the age of 54 years, she was still performing sport, without presenting with myotonia on clinical examination or having developed other typical manifestations of proximal myotonic myopathy. Conclusions: This case shows that proximal myotonic myopathy may take a mild course over at least 22 years, that proximal myotonic myopathy with mild myotonia may allow a patient to continue strenuous sport activity, and that continuous physical activity may contribute to the mild course of the disease.
Estilos ABNT, Harvard, Vancouver, APA, etc.
3

Fanning, Lorna, e Mary MacDermott. "Effect of Temperature Reduction on Myotonia in Rat Skeletal Muscles in vitro". Clinical Science 92, n.º 6 (1 de junho de 1997): 587–92. http://dx.doi.org/10.1042/cs0920587.

Texto completo da fonte
Resumo:
1. The objective of the study was to determine the effect of temperature reduction on the response of rat skeletal muscles to myotonia-inducing agents. 2. A model myotonia was induced in the muscles in vitro, using either the chloride channel blocker anthracene-9-carboxylic acid or chloride-free Krebs solution. This model is similar in its characteristics to the myotonia which occurs in autosomal recessive generalized myotonia congenita in humans. 3. Isometric twitch contractions were recorded in the muscles in Krebs solution before and after the addition of the myotonia-inducing agent. The presence of myotonia was confirmed when the half-relaxation time of the twitch contraction after the addition of the agent was significantly greater than that before its addition. 4. Recordings were made at 37°C, 30°C, 25°C and 15°C. Myotonia developed at 37°C, 30°C and 25°C, but not at 15°C, indicating that at a temperature between 25°C and 15°C, anthracene-9-carboxylic acid-induced myotonia failed to develop. This supports the results obtained in humans suffering from myotonia congenita where myotonic contractions in the adductor pollicis muscle disappeared when the muscle temperature was cooled to 20°C. 5. The myotonia which developed at 37°C could be significantly reduced by exposure to 1 × 10−4 mol/l ouabain or by elevation of the K+ concentration of the Krebs solution to 7.5 mmol/l. 6. Measurements made using microelectrodes showed that the conditions under which myotonia either did not develop or was significantly reduced, i.e. a temperature of 15°C, exposure to 7.5 mmol/l K+ at 37°C or exposure to 1 × 10−4 mol/l ouabain at 37°C, were each associated with membrane depolarization. The results are discussed in terms of a possible role for depolarization in preventing/reducing the myotonic response.
Estilos ABNT, Harvard, Vancouver, APA, etc.
4

Magnussen, Marcus, Ioannis Karakis e Taylor B. Harrison. "The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis". Case Reports in Neurological Medicine 2015 (2015): 1–4. http://dx.doi.org/10.1155/2015/242691.

Texto completo da fonte
Resumo:
Electrical myotonia is known to occur in a number of inherited and acquired disorders including myotonic dystrophies, channelopathies, and metabolic, toxic, and inflammatory myopathies. Yet, electrical myotonia in myasthenia gravis associated with antibodies against muscle-specific tyrosine kinase (MuSK) has not been previously reported. We describe two such patients, both of whom had a typical presentation of proximal muscle weakness with respiratory failure in the context of a significant electrodecrement in repetitive nerve stimulation. In both cases, concentric needle examination revealed electrical myotonia combined with myopathic motor unit morphology and early recruitment. These findings suggest that MuSK myasthenia should be included within the differential diagnosis of disorders with electrical myotonia.
Estilos ABNT, Harvard, Vancouver, APA, etc.
5

Carter, Gregory T., Michael D. Weiss e Thomas D. Bird. "Myotonic disorder without myotonia?" Muscle & Nerve 40, n.º 6 (31 de agosto de 2009): 1071–72. http://dx.doi.org/10.1002/mus.21418.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
6

Ricker, K. "The expanding clinical and genetic spectrum of the myotonic dystrophies". Neurology Bulletin XXXIII, n.º 1-2 (15 de maio de 2001): 115–16. http://dx.doi.org/10.17816/nb79796.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
7

Лихачев, С. А., А. В. Астапенко, И. П. Марьенко, Т. В. Корбут e Е. С. Степанова. "Dystrophic Myotonia of Rossolimo – Steinert – Kurshman, Sporadic Case. Clinical Observation". Неврология и нейрохирургия. Восточная Европа, n.º 1 (29 de abril de 2020): 120–26. http://dx.doi.org/10.34883/pi.2020.10.1.050.

Texto completo da fonte
Resumo:
Дистрофическая миотония это генетически детерминированное нервно-мышечное заболевание, относящееся к каналопатиям (заболеваниям, связанным с патологией ионных каналов мембран скелетных мышечных волокон). Классическими признаками миотонии являются миотонические феномены, характеризующиеся замедленным расслаблением скелетных мышц после произвольного сокращения или электрической стимуляции и миотоническими разрядами, выявляемые при клиническом обследовании и игольчатой электромиографии соответственно. Типичным представителем является миотоническая дистрофия (или дистрофическая миотония), описанная в начале прошлого века несколькими авторами и получившая название болезни Россолимо Штейнерта Куршмана. Данная нозологическая единица является самым распространенным заболеванием из разряда миотоний и самой частой формой мышечной дистрофии у взрослых людей. Миотония может вовлекать все группы мышц. Однако характер поражения мышц может варьировать в зависимости от конкретного заболевания. В статье описаны этиология, патогенез, формы, диагностика и основные принципы лечения. Описан клинический случай. Dystrophic myotonia is a genetically determined neuromuscular disease related to canalopathies (diseases associated with the pathology of the ion channels of the skeletal muscle fiber membranes). Classic signs of myotonia are myotonic phenomena characterized by delayed relaxation of skeletal muscles after arbitrary contraction or electrical stimulation and myotonic discharges detected during clinical examination and needle electromyography, respectively. A typical representative is myotonic dystrophy (or dystrophic myotonia), described at the beginning of the last century by several authors and called Rossolimo-Steinert-Kurschmann disease. This nosological unit is the most common disease of the category of myotonia and the most common form of muscular dystrophy in adults. Myotonia can involve all muscle groups. However, the nature of muscle damage may vary depending on the specific disease. The article describes the etiology, pathogenesis, forms, diagnosis, and basic principles of treatment. A clinical case is described.
Estilos ABNT, Harvard, Vancouver, APA, etc.
8

Yadava, Ramesh S., Qing Yu, Mahua Mandal, Frank Rigo, C. Frank Bennett e Mani S. Mahadevan. "Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3′UTR RNA". Human Molecular Genetics 29, n.º 9 (2 de abril de 2020): 1440–53. http://dx.doi.org/10.1093/hmg/ddaa060.

Texto completo da fonte
Resumo:
Abstract Myotonic dystrophy type 1 (DM1), the most common adult muscular dystrophy, is an autosomal dominant disorder caused by an expansion of a (CTG)n tract within the 3′ untranslated region (3′UTR) of the dystrophia myotonica protein kinase (DMPK) gene. Mutant DMPK mRNAs are toxic, present in nuclear RNA foci and correlated with a plethora of RNA splicing defects. Cardinal features of DM1 are myotonia and cardiac conduction abnormalities. Using transgenic mice, we have demonstrated that expression of the mutant DMPK 3′UTR is sufficient to elicit these features of DM1. Here, using these mice, we present a study of systemic treatment with an antisense oligonucleotide (ASO) (ISIS 486178) targeted to a non-CUG sequence within the 3′UTR of DMPK. RNA foci and DMPK 3′UTR mRNA levels were reduced in both the heart and skeletal muscles. This correlated with improvements in several splicing defects in skeletal and cardiac muscles. The treatment reduced myotonia and this correlated with increased Clcn1 expression. Furthermore, functional testing showed improvements in treadmill running. Of note, we demonstrate that the ASO treatment reversed the cardiac conduction abnormalities, and this correlated with restoration of Gja5 (connexin 40) expression in the heart. This is the first time that an ASO targeting a non-CUG sequence within the DMPK 3′UTR has demonstrated benefit on the key DM1 phenotypes of myotonia and cardiac conduction defects. Our data also shows for the first time that ASOs may be a viable option for treating cardiac pathology in DM1.
Estilos ABNT, Harvard, Vancouver, APA, etc.
9

Bandschapp, Oliver, Hans F. Ginz, Charles L. Soule, Thierry Girard, Albert Urwyler e Paul A. Iaizzo. "In Vitro Effects of Propofol and Volatile Agents on Pharmacologically Induced Chloride Channel Myotonia". Anesthesiology 111, n.º 3 (1 de setembro de 2009): 584–90. http://dx.doi.org/10.1097/aln.0b013e3181b05f23.

Texto completo da fonte
Resumo:
Background Anesthetic choice for patients with chloride channel myotonia remains under debate. The authors have, therefore, investigated the in vitro effects of various anesthetic agents on pharmacologically induced chloride channel myotonia. Methods Functionally viable (> 10 mN force generation) rectus abdominis muscle preparations obtained from normal swine were investigated using in vitro muscle contracture test baths. During continuous 0.1-Hz supramaximal electrical stimulation, the chloride channel blocker 9-anthracenecarboxylic acid (64 microM) was added before the addition of propofol or one of three volatile anesthetics. The concentration of propofol in either Intralipid (n = 11) or dimethyl sulfoxide (n = 10) was doubled every 10 min (from 4-512 microM). The concentration of halothane (n = 8), isoflurane (n = 8), and sevoflurane (n = 8) was doubled from 0.25 vol% up to the maximum dose according to calibrated vaporizers. Control muscle bundles were either untreated (n = 30) or exposed to 9-anthracenecarboxylic acid (n = 19). Results The myotonic reactions induced by 9-anthracenecarboxylic acid were reversed by high-dose (> 64 microM) propofol (P < 0.01). Halothane, isoflurane, or sevoflurane each enhanced the myotonic reactions at 5.4 (P < 0.001), 0.21 (P < 0.01), and 0.5 minimum alveolar concentrations (P < 0.05), respectively. Conclusions The authors' in vitro data imply that propofol administration for general anesthesia may be better suited for patients with chloride channel myotonia versus volatile anesthetics. In isolated swine skeletal muscle bundles, propofol elicited a reversal of 9-anthracenecarboxylic acid-induced chloride channel myotonia, whereas volatile anesthetics further increased the associated myotonic reactions.
Estilos ABNT, Harvard, Vancouver, APA, etc.
10

Karras, Georgios, Evangelia Nikouli e Bulent Kiamiloglou. "Laparoscopic cholecystectomy under total intravenous anaesthesia in a patient with myotonic dystrophy type 1 (Steinert’s disease) – a case report". Folia Medica 64, n.º 2 (30 de abril de 2022): 333–36. http://dx.doi.org/10.3897/folmed.64.e59905.

Texto completo da fonte
Resumo:
Myotonic dystrophy type 1 or Steinert’s disease is an autosomal dominant multisystem disease which is characterized by consistent contracture of muscle following stimulation (myotonia). Hypothermia, shivering, mechanical or electric stimulation during surgery can precipitate episodes of myotonia which may complicate the course of anaesthesia. The present case report focuses on successful strategies for providing general anaesthesia for laparoscopic cholecystectomy in a patient affected by this genetic disorder, at a hospital which does not have the facility for postoperative ventilation.
Estilos ABNT, Harvard, Vancouver, APA, etc.
Mais fontes

Teses / dissertações sobre o assunto "Myotonia"

1

Meyer, Alayne. "Genotype-phenotype correlations and characterization of medication use in inherited myotonic disorders". The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu155506792600104.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
2

Villeneuve, Josée. "Évaluation du recours au test génétique chez les personnes à risque de la dystrophie myotonique au Saguenay-Lac-St-Jean /". Thèse, Chicoutimi : Université du Québec à Chicoutimi, 2001. http://theses.uqac.ca.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
3

Brisson, Diane. "Évaluation de la variabilité génotypique et phénotypique, intrafratrie, dans la dystrophie myotonique de Steinert /". Thèse, Ste-Foy : Chicoutimi : Université Laval. Université du Québec à Chicoutimi, 1999. http://theses.uqac.ca.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
4

Novak, Kevin Richard. "Novel Mechanisms Underlying Warm-up and Percussion Myotonia in Myotonia Congenita". Wright State University / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=wright1496183981178166.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
5

Burge, J. A. "Mechanisms of phenotypic variability in Myotonia Congenita". Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1401157/.

Texto completo da fonte
Resumo:
The severity of Myotonia Congenita varies not only across individuals with different CLCN1 genotypes, but also within a pedigree, and can even fluctuate over time within a single individual in response to environmental circumstances. The functional consequences of eight naturally occurring sequence variants in the skeletal muscle chloride channel gene, CLCN1, were examined by whole cell patch-clamp of HEK293T cells expressing the gene product, ClC-1, in order to investigate potential differences in their mechanisms of pathogenicity. G276D and G523D caused complete loss of function, while S289G produced altered kinetics and a marked depolarizing shift of voltage dependence. H369P, A566T and M646T all tested normal in the HEK293T assay despite strong clinical support for pathogenicity. Their mechanism of pathogenicity may rely on muscle-specific processes that are not faithfully recapitulated in HEK293T cells. W118G and P744T were selected as examples of variants for which pathogenicity is unclear from the clinical evidence. The former is present in controls, but over-represented in the Myotonia Congenita population. The latter is present in an individual who also harbours a large deletion in CLCN1. Both variants tested normal in the HEK293T assay. A potent trigger for worsening of myotonia in some female patients is pregnancy. In order to clarify the role of sex hormones in non-genomic modulation of skeletal muscle excitability, the effects of progesterone and oestrogen on endogenous chloride currents through the wildtype ClC-1 of mouse skeletal muscle were tested by whole cell patch clamp. Progesterone and oestrogen rapidly reduced the chloride conductance and shifted its voltage dependence, thus a non-genomic mechanism exists in skeletal muscle linking sex hormones to ClC-1. However the effect was only significant at 500 times the highest physiological concentration encountered in pregnancy. The macroscopic chloride conductance of a membrane expressing wildtype ClC-1 was simulated in Matlab. The simulation improves on published models by recapitulating both time-dependence and voltage-dependence of the channel through a method based on independent representations of the fast and the slow gates. The applicability of the model for the purposes of exploring the effects of specific mutations was assessed by attempting to simulate the currents through S289G channels; the effects of S289G could be mimicked by slowing and inverting the kinetics of the fast gate and shifting the fast gate opening probability to more depolarized potentials. The mechanism of low chloride conductance myotonia and electrical factors likely to impact on its severity are discussed in the context of experiments conducted in a model of myotonic muscle. Slowing of ClC-1 kinetics alone did not produce myotonia, but could lower the threshold for myotonia caused by shifts in voltage dependence. Muscle fibre diameter is an important factor in the propensity to myotonia, which can be driven by asynchrony between surface and t-tubular action potentials in large muscle fibres. Increasing muscle fibre diameter could underly the age-dependence of symptom onset in Myotonia Congenita, and differences in diameter could contribute to phenotypic variability, including male-female differences.
Estilos ABNT, Harvard, Vancouver, APA, etc.
6

Chaiklieng, Sunisa. "Low chloride conductance myotonia - in vitro investigations on muscle stiffness and the warm-up phenomenon". [S.l. : s.n.], 2008. http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-61365.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
7

Papponen, H. (Hinni). "The muscle specific chloride channel ClC-1 and myotonia congenita in Northern Finland". Doctoral thesis, University of Oulu, 2008. http://urn.fi/urn:isbn:9789514286926.

Texto completo da fonte
Resumo:
Abstract Functional defects in the muscle specific chloride channel ClC-1 result in reduced chloride conductance and electrical hyperexcitability, which in turn impairs muscle relaxation and leads to myotonia. The gene CLCN 1 codes for ClC-1 in humans, and mutations in CLCN 1 cause the disease known as myotonia congenita. Worldwide over 80 mutations in CLCN1 have been described, but only three were found in patients in Northern Finland. These included two missense mutations and a nonsense mutation. The behavior and localization of the normal and mutated ClC-1 mRNA and protein were analyzed in muscle cell cultures. In intact muscle the ClC-1 protein was seen in the sarcolemma, but after myofiber isolation the protein was located intracellularly. Sarcolemmal localization was restored when myofibers were electrically stimulated or treated with a protein kinase C inhibitor. When mutated ClC-1 proteins were examined in a myofiber cell culture system, retardation in the ER was observed with the two missense mutations. The nonsense mutation did not have an effect on the transport from the ER to the Golgi elements, but the mutated ClC-1 was degraded more rapidly than the wild type ClC-1, at least in myotubes. Both retardation and degradation of the mutated ClC-1 are likely to result in too few channels present at the plasma membrane of the muscle cell to maintain normal physiological function. A very strict quality control in muscle cells was observed. The behavior and survival of multinuclear skeletal muscle cells is dependent on innervation and muscle activity, and the balance between the phosphorylation and dephosphorylation pathways modulates the function of muscle chloride channels
Tiivistelmä Lihasspesifisen kloridikanavan ClC-1:n toiminnalliset virheet johtavat alentuneeseen kloridin johtumiseen solukalvon läpi ja lihassolun ylieksitoitumiseen. Tämän seurauksena lihaksen rentoutuminen vaikeutuu ja havaitaan myotoniaa, lihasjäykkyyttä. Pohjoissuomalaisesta potilasmateriaalista tautiin johtavia geenimutaatioita löytyi kolme erilaista. Poikkeuksellista havainnoissa on erilaisten mutaatioiden vähyys, mikä on tyypillistä suomalaiselle tautiperinnölle. Yhteensä tämän kloridikanavan mutaatioita on julkaistu yli 80 erilaista. Tutkiessamme normaalin ja mutatoidun ClC-1 lRNA:n ja proteiinin käyttäytymistä ja sijaintia lihassoluviljelmissä. Havaitsimme eron lihasleikkeiden ja eristettyjen myofiibereiden välillä. Lihasleikkeissä ClC-1 paikantui solun pinnalle sarkolemmalle, mutta eristetyissä myofiibereissä lähinnä solun sisälle. Stimuloimalla eristettyjä myofiibereitä sähkövirralla tai käsittelemällä proteiini kinaasi C inhibiittorilla, saimme kloridikanava-proteiinin siirtymään takaisin solun pinnalle. Proteiinitasolla kuljetuksessa on havaittavissa eroja. Aminohappomuutokseen johtavat pistemutaatiot aiheuttivat proteiinin jäämisen endoplasmiseen kalvostoon, kun taas ennenaikaisen stop-kodonin johdosta lyhentynyt proteiini kuljetetaan eteenpäin Golgin laitteeseen. Myotuubeissa tämä lyhentynyt proteiini kuitenkin hajotettiin nopeammin kuin normaali kloridikanavaproteiini. Sekä kuljetuksen hidastuminen että nopeampi hajotus johtavat tilanteeseen, jossa lihassolun solukalvolla on liian vähän kloridikanavia ylläpitämään lihaksen normaalia fysiologista toimintaa. Monitumaisten lihassolujen laaduntarkkailu havaittiin vielä monitahoisemmaksi kuin yksitumaisilla. Monitumainen lihassolu on riippuvainen hermoärsytyksestä ja lihasaktiivisuudesta. Lisäksi fosforylaatioon liittyvä signalointi on tärkeää ClC-1 proteiinin oikealle paikantumiselle lihassolussa
Estilos ABNT, Harvard, Vancouver, APA, etc.
8

Amior, N. "Developing models to study the mechanisms of weakness and myotonia in Periodic Paralysis". Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10044636/.

Texto completo da fonte
Resumo:
Periodic paralysis (PP) is a disorder characterised by episodic attacks of paralysis, caused by mutations of skeletal muscle voltage gated ion channels. Although episodes eventually subside, patients develop progressive muscle weakness and frequently, myopathy. The relationship between this progression and the associated mutations is not understood. I propose that the longer term defect might result from disordered calcium signalling secondary to altered excitability, and its impact on mitochondrial function. I sought models where these aspects of muscle signalling could be studied. These were: A genetic model derived from patients: patient derived fibroblasts were virally transduced with MyoD to generate myoblasts, which were differentiated into myotubes with patient specific gene mutations. A pharmacological model: generated by treating neonatal rat myotube cultures with barium (an inhibitor of potassium channels) and low extracellular potassium to simulate attacks of PP. Treated cultures displayed more frequent spontaneous calcium fluctuations. Mitochondrial membrane potential was not affected by the treatment, but expression of TFAM (mitochondrial transcription factor A; a regulator of mitochondrial transcription and biogenesis) was upregulated, suggesting activation of retrograde signalling pathways. A mouse model: collaborators at MRC Harwell generated mice carrying a mutation (c.1744A > G; p.Ile582Val) equivalent to a novel point mutation in SCN4A, one of the ion channel genes associated with PP. Measurements in vivo established that affected mice show muscle weakness and delayed fatigue during tetanic responses. Calcium handling and mitochondrial function were analysed in single isolated myofibres. Calcium handling was not affected, however mitochondrial membrane potential was reduced in fibres from the PP mice and distribution was also affected, with fewer intermyofibrillar mitochondria, indicating altered mitochondrial bioenergetics. Thus I describe several approaches to investigate mechanisms that cause progressive weakness and myopathy in PP, and assess the relative merits of each approach. Furthermore, results suggest that a shift toward a more oxidative phenotype is taking place.
Estilos ABNT, Harvard, Vancouver, APA, etc.
9

Braida, Claudia. "Molecular analysis of myotonic dystrophy type 1 patients with an unusual molecular diagnosis". Thesis restricted. Connect to e-thesis to view abstract, 2008. http://theses.gla.ac.uk/359/.

Texto completo da fonte
Resumo:
Thesis (Ph.D.) - University of Glasgow, 2008.
Ph.D. thesis submitted to the Division of Molecular Genetics, Institute of Biomedical and Life Sciences, University of Glasgow, 2008. Includes bibliographical references. Print version also available.
Estilos ABNT, Harvard, Vancouver, APA, etc.
10

Goers, Emily Sarah Marie. "The muscleblind protein family's RNA sequence elements, structural elements and novel binding sites defend through SELEX /". Connect to title online (Scholars' Bank) Connect to title online (ProQuest), 2008. http://hdl.handle.net/1794/9173.

Texto completo da fonte
Resumo:
Thesis (Ph. D.)--University of Oregon, 2008.
Typescript. Includes vita and abstract. Includes bibliographical references (leaves 93-106). Also available online in Scholars' Bank; and in ProQuest, free to University of Oregon users.
Estilos ABNT, Harvard, Vancouver, APA, etc.
Mais fontes

Livros sobre o assunto "Myotonia"

1

Ueda, Hideho. Myotonic dystrophy and myotonic dystrophy protein kinase. Jena, Germany: Urban & Fischer, 2000.

Encontre o texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
2

Shinichi, Ohno, e Kobayashi T. (Takayoshi), eds. Myotonic dystrophy and myotonic dystrophy protein kinase. Jena, Germany: Urban & Fischer, 2000.

Encontre o texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
3

Harper, Peter S. Myotonic dystrophy. 2a ed. New York: Oxford University Press, 2009.

Encontre o texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
4

Harper, Peter S. Myotonic dystrophy: A lecture given by Professor Harper to the Mytotonic Dystrophy Support Group on 21.4.89. Nottingham: Myotonic Dystrophy Support Group, 1989.

Encontre o texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
5

S, Harper Peter, ed. Myotonic dystrophy: Present management, future therapy. Oxford: Oxford University Press, 2004.

Encontre o texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
6

Fanning, Lorna. Factors influencing chemically induced myotonia in rat muscles. Dublin: University College Dublin, 1995.

Encontre o texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
7

Parker, James N., e Philip M. Parker. Myotonic dystrophy: A bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]. San Diego, CA: ICON Health Publications, 2007.

Encontre o texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
8

Takahashi, Masanori P., e Tsuyoshi Matsumura, eds. Myotonic Dystrophy. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0508-5.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
9

Engvall, Monica. On oral health in children and adults with myotonic dystrophy. Gothenburg: Department of Pedodontics, Institute of Odontology at the Sahlgrenska Academy, University of Gothenburg, 2010.

Encontre o texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
10

Pinheiro, Philip Mark. A study of RNA trinucleotide repeats involved in myotonic dystrophy. Portsmouth: University of Portsmouth, School of Biological Sciences, 1999.

Encontre o texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
Mais fontes

Capítulos de livros sobre o assunto "Myotonia"

1

Anderson, Janice R. "Myotonia". In Atlas of Skeletal Muscle Pathology, 89–96. Dordrecht: Springer Netherlands, 1985. http://dx.doi.org/10.1007/978-94-009-4866-2_11.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
2

Leung, Alexander K. C., Cham Pion Kao, Andrew L. Wong, Alexander K. C. Leung, Thomas Kolter, Ute Schepers, Konrad Sandhoff et al. "Subtypes Myotonia Fluctuans and Myotonia Permanens". In Encyclopedia of Molecular Mechanisms of Disease, 2002. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7479.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
3

Bien, Christian G., Christian E. Elger, Ali R. Afzal, Sirajedin Natah, Ritva Häyrinen-Immonen, Yrjö Konttinen, George S. Zubenko et al. "Recessive Myotonia". In Encyclopedia of Molecular Mechanisms of Disease, 1805. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7481.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
4

Peters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann et al. "Chondrodystrophic Myotonia". In Encyclopedia of Molecular Mechanisms of Disease, 344–45. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7830.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
5

Rayan, Dipa L. Raja, e Michael G. Hanna. "When Is Myotonia Not Caused By Myotonic Dystrophy?" In Neuromuscular Disease, 161–64. London: Springer London, 2016. http://dx.doi.org/10.1007/978-1-4471-2389-7_32.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
6

Oette, Mark, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz et al. "Myotonia and Paramyotonia". In Encyclopedia of Molecular Mechanisms of Disease, 1423–25. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_3119.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
7

Bien, Christian G., Christian E. Elger, Ali R. Afzal, Sirajedin Natah, Ritva Häyrinen-Immonen, Yrjö Konttinen, George S. Zubenko et al. "Recessive Generalized Myotonia". In Encyclopedia of Molecular Mechanisms of Disease, 1805. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_5130.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
8

Peters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann et al. "Chloride Channel Myotonia". In Encyclopedia of Molecular Mechanisms of Disease, 317. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7477.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
9

Leung, Alexander K. C., Cham Pion Kao, Andrew L. Wong, Alexander K. C. Leung, Thomas Kolter, Ute Schepers, Konrad Sandhoff et al. "Sodium Channel Myotonia". In Encyclopedia of Molecular Mechanisms of Disease, 1951. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7478.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
10

Angelini, Corrado. "Congenital Myotonia, Thomsen Disease". In Genetic Neuromuscular Disorders, 213–16. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56454-8_55.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.

Trabalhos de conferências sobre o assunto "Myotonia"

1

Lin, Lei, Beilei Xu, Wencheng Wu, Trevor Richardson, Edgar A. Bernal, Bill Martens, Charles Thornton e Chad Heatwole. "Deep Metric Learning with Triplet Networks: Application to Hand-grip Myotonia Quantification". In 2019 IEEE Healthcare Innovations and Point of Care Technologies (HI-POCT). IEEE, 2019. http://dx.doi.org/10.1109/hi-poct45284.2019.8962888.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
2

Moreira, João Victor Aguiar, Isabela Maria Bernardes Goulart, Diogo Fernandes dos Santos, Isabella Sabião Borges, Pedro Otávio Rego de Aguiar, Thaciany Soares Ferreira, Leonardo Peixoto Garcia et al. "Bilateral diaphragmatic eventration and alveolar hypoventilation in congenital myotonic dystrophy". In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.533.

Texto completo da fonte
Resumo:
Context: Congenital myotonic dystrophy (CMD) is a subtype of type 1 myotonic dystrophy presented in the neonatal period associated with a 16–40% mortality rate. CMD cause significant morbidity and mortality and often require intensive intervention at birth because of hypotonia, respiratory failure and feeding difficulties. It can cause respiratory problems including ineffective cough, recurrent pulmonary infections, orthopnea, dyspnea, poor sleep, apnea and snoring. However, there are few descriptions about diaphragmatic impairment in CMD. We present a baby who had bilateral diaphragmatic eventration associated with CMD. Case report: A term outborn female baby with normal birth weight, delivered by cesarean presenting hypotonia and breathing difficulty since birth. There was no history of meconium aspiration syndrome and aspiration pneumonia. Neurological examination showed a severe hypotonia, eyelid ptosis, oral motor weakness and suction inability, without contractures. Chest X-rays confirmed the bilateral diaphragmatic paralysis. Electroneuromyography confirmed a marked myopathic involvement with frequent myotonic discharges. The mother presented clinical and electrical myotonic phenomena. The baby started mechanical ventilation as was not maintaining saturation on head box oxygen. After surgical repair the baby started on non-invasive respiratory support with improvement of ventilatory conditions. Conclusion: Diaphragmatic eventration is a congenital condition where the muscle maintains its normal costal attachments but is significantly elevated with limited motility. Clinical manifestations vary to life-threatening respiratory distress. Bilateral congenital diaphragmatic eventration is rarer and has more guarded prognosis. Early diaphragmatic plication enhances weaning process and may prevent or minimize the morbidity. Infants with CMD should be monitored for diaphragmatic impairment.
Estilos ABNT, Harvard, Vancouver, APA, etc.
3

Schoser, B. "Molekulare Mechanismen der Myotonen Dystrophien". In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1684951.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
4

Wiedmer-Chaparro, R., T. Fritz, A. Ziachehabi, G. Spaun, F. Wewalka e R. Schöfl. "Perorale endoskopische Myotomie am Ordensklinikum Linz". In 54. Jahrestagung & 31. Fortbildungskurs der Österreichischen Gesellschaft für Gastroenterologie & Hepatologie – ÖGGH (Hybrid Veranstaltung). Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1734247.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
5

Meinke, P., S. Hintze, S. Limmer e B. Schoser. "Myotone Dystrophie – eine progeroide Erkrankung?" In 24. Kongress des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.V. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1684952.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
6

Almeda, M., S. Puranik, M. Felker e A. S. Daftary. "Biphasic Cuirass Ventilation in a Patient with Congenital Myotonic Dystrophy". In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1928.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
7

Seijger, Charlotte, Joost Raaphorst, Judith Vonk, Baziel Engelen, Van, Nadine Stigter e Peter Wijkstra. "Is survival in Myotonic Dystrophy improved by chronic ventilatory support?" In ERS International Congress 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/13993003.congress-2019.pa2300.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
8

Mewes, M., F. Straulino, A. Genthner e A. Eickhoff. "Peroral-endoskopische Myotomie (POEM) mit Hybrid-Knife und DryCut-Myotomie bei Achalasie - Langzeitergebnisse hinsichtlich Effektivität und Sicherheit". In Viszeralmedizin 2021 Gemeinsame Jahrestagung Deutsche Gesellschaft für Gastroenterologie, Verdauungs- und Stoffwechselkrankheiten (DGVS), Sektion Endoskopie der DGVS, Deutsche Gesellschaft für Allgemein und Viszeralchirurgie (DGAV). Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1733498.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
9

Mewes, M., F. Straulino, A. Genthner e A. Eickhoff. "Peroral-endoskopische Myotomie (POEM) mit Hybrid-Knife und DryCut-Myotomie bei Achalasie - Langzeitergebnisse hinsichtlich Effektivität und Sicherheit". In Viszeralmedizin 2021 Gemeinsame Jahrestagung Deutsche Gesellschaft für Gastroenterologie, Verdauungs- und Stoffwechselkrankheiten (DGVS), Sektion Endoskopie der DGVS, Deutsche Gesellschaft für Allgemein und Viszeralchirurgie (DGAV). Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1733498.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
10

Fregonezi, Guilherme, Morgana Araujo Evangelista, Fernando Dias, Mario Emilio Dourado Jr., Illia Nadine Dantas Florentino Lima, Vanessa Resqueti e Andrea Aliverti. "Noninvasive assessment of respiratory muscle strenght and activity in myotonic dystrophy". In ERS International Congress 2016 abstracts. European Respiratory Society, 2016. http://dx.doi.org/10.1183/13993003.congress-2016.pa5040.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.

Relatórios de organizações sobre o assunto "Myotonia"

1

Ni, Jiachun, Qiong Jiang, Gang Mao, Yi Yang, Qin Wei, Changcheng Hou, Xiangdong Yang, Wenbin Fan e Zengjin Cai. The effectiveness and safety of acupuncture for constipation associated with Parkinson’s disease: Protocol for a systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, fevereiro de 2022. http://dx.doi.org/10.37766/inplasy2022.2.0091.

Texto completo da fonte
Resumo:
Review question / Objective: Is acupuncture a safe and effective therapy for constipation associated with Parkinson’s disease? Our aim is to assess the effectiveness and safety of acupuncture for constipation associated with PD and give guidance to future research direction. Condition being studied: Parkinson’s disease (PD) is a prevalent degenerative disease of nervous system characterized mainly by static tremor, bradykinesia, myotonia, postural gait disorders and other non-motor symptoms. According to variations on race, ethnicity, age and sex, the incidence of PD ranges from 8 to 20.5 per 100, 000 individuals annually. One global research shows that there were 6.1 million individuals suffer from PD in 2016 and will be 12 million patients around the world. According to several outcomes of case-control studies, the prevalence of constipation in PD varies from 28% to 61%. Constipation, as a common gastrointestinal disease which refers to the clinical presentation of reduced spontaneous complete bowel movement, dyschezia, feeling of incomplete defecation and outlet obstruction, is demonstrated to antedate the motor symptom and it's severity is related to the progression of PD. Acupuncture has been proved to act on the pathogenesis of constipation associated with PD. The proposed systematic review we're about to present is the first advanced evidence-based medical evidence in this area.
Estilos ABNT, Harvard, Vancouver, APA, etc.
2

Cortés, Almendra, Fernanda Larenas, Sofía Yáñez, Elizabeth Fernández, Luis Vasconcello-Castillo, Xavier Alsina-Restoy, Gonzalo Rivera-Lillo e Rodrigo Torres-Castro. Pulmonary function in people with myotonic dystrophy: a systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, março de 2022. http://dx.doi.org/10.37766/inplasy2022.3.0130.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
3

Kastreva, Kristina, e Ivailo Tournev. Clinical Data Analysis of the Bulgarian Patient Registry for Myotonic Dystrophy Type 1 and Type 2 – Part of the Global TREAT-NMD Registry. "Prof. Marin Drinov" Publishing House of Bulgarian Academy of Sciences, junho de 2020. http://dx.doi.org/10.7546/crabs.2020.06.18.

Texto completo da fonte
Estilos ABNT, Harvard, Vancouver, APA, etc.
Você também pode estar interessado nas extensas listas de trabalhos sobre o assunto "Myotonia":
Artigos de revistas Teses / dissertações Livros
Oferecemos descontos em todos os planos premium para autores cujas obras estão incluídas em seleções literárias temáticas. Contate-nos para obter um código promocional único!

Vá para a bibliografia