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Muscular dystrophy

Eteplirsen for Duchenne Muscular Dystrophy pdf

Eteplirsen for Duchenne Muscular Dystrophy pdf

... Duchenne muscular dystrophy, the most common of childhood muscular dystrophies, is a clear example of the influence of lobbyists on the political decisions made on medical ...Duchenne muscular ...

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Ischemic stroke in a young patient due to protein S deficiency in the context of muscular dystrophy - case report

Ischemic stroke in a young patient due to protein S deficiency in the context of muscular dystrophy - case report

... (8). Muscular dystrophy has an incidence, in its most frequent form of ...with muscular dystrophy and these were caused by embolism of cardiac origin ...cular dystrophy was not found in ...

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Combined therapies for Duchenne muscular dystrophy to optimize treatment efficacy

Combined therapies for Duchenne muscular dystrophy to optimize treatment efficacy

... The expression of microRNA-29—a family of microRNAs whose downregulation is associated with fibrosis—not only decreased TGF- β 1 and ECM proteins expression but also completely restored muscle strength in dystrophic ...

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Novel and optimized strategies for inducing fibrosis in vivo: Focus on Duchenne Muscular Dystrophy

Novel and optimized strategies for inducing fibrosis in vivo: Focus on Duchenne Muscular Dystrophy

... muscular degeneration, of which DMD is one of the se- verest. Progressive replacement of skeletal muscle by fat and fibrotic tissue not only exacerbates disease progres- sion, but also impairs the efficiency of ...

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EXON SKIPPING, NEW DRUGS STRATEGY FOR DUCHENNE MUSCULAR DYSTROPHY pdf

EXON SKIPPING, NEW DRUGS STRATEGY FOR DUCHENNE MUSCULAR DYSTROPHY pdf

... Duchenne Muscular Dystrophy are trying to make the FDA change its position of not authorizing Drisapersen; as well as fighting so that the approval of Eteplirsen is not hampered as ...

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Role of CTGF and TNF on fibrosis in muscular dystrophy

Role of CTGF and TNF on fibrosis in muscular dystrophy

... Duchenne Muscular Dystrophy (DMD) is an X-linked disease characterized by progressive and accumulative damage in the muscle due to the absence of the dystrophin ...

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Changes in Pain related Beliefs, Coping, and Catastrophizing Predict Changes in Pain Intensity, Pain Interference, and Psychological Functioning in Individuals With Myotonic Muscular Dystrophy and Facioscapulohumeral Dystrophy

Changes in Pain related Beliefs, Coping, and Catastrophizing Predict Changes in Pain Intensity, Pain Interference, and Psychological Functioning in Individuals With Myotonic Muscular Dystrophy and Facioscapulohumeral Dystrophy

... The participants in the current study consisted of adults with a primary diagnosis of neuromuscular disease (NMD) completing assessments at two time-points (termed initial and 24-month). Participants were recruited from ...

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Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A

Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A

... TFRC (transferrin receptor) and VLDLR (very low density lipoprotein receptor) are upregulated in LGMD2A patients as occurred in FSHD muscles [33]. Transferrin is a key myoblast trophic factor, initially promoting ...

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Open design of an actuated arm orthosis using 3D printing technology for patients with progressive muscular dystrophy

Open design of an actuated arm orthosis using 3D printing technology for patients with progressive muscular dystrophy

... of muscular dystrophy is advanced, more than one joint needs to be actuated, and elevation support for the shoulder joint is not enough to carry out most of the ...

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Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

... Mutations in the dystrophin gene result in both Duch- enne and Becker muscular dystrophies (DMD and BMD). Approximately two-thirds of the affected patients have large deletions or duplications. Using the multi- ...

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Rehabilitación del paciente agudo con enfermedad de Duchenne

Rehabilitación del paciente agudo con enfermedad de Duchenne

... Muscular dystrophy is defined as a group of hereditary diseases characterized for weakness and progressive atrophy of the muscular ...Duchenne's muscular atrophy of genetic origin which is a ...

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Distrofia muscular Duchenne

Distrofia muscular Duchenne

... Duchenne muscular dystrophy at the age of 7 years, currently under treatment with Prednisone and IECAS as ...Duchenne Muscular Dystrophy is a type of progressive hereditary neuromuscular ...

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Estudio de la patología molecular en disferlinopatías

Estudio de la patología molecular en disferlinopatías

... girdle muscular dystrophy) son un grupo heterogéneo de enfermedades neurológicas raras, que se incluyen dentro de las llamadas distrofias musculares ...

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Distrofia muscular miotónica: estudio de 17 casos

Distrofia muscular miotónica: estudio de 17 casos

... cular Dystrophy (MMD), a hereditary myo- pathy characterized by Myotonia, Muscular Dystrophy and abnormalities of other ...cular Dystrophy, Myotonia and systemic ab- ...

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Secuenciación de exoma completo en trastorno bipolar autosómico dominante: afectación del gen PERIOD3 ritmo circadiano

Secuenciación de exoma completo en trastorno bipolar autosómico dominante: afectación del gen PERIOD3 ritmo circadiano

... AUTOSOMAL RECESSIVE EMERY–DREIFUSS MUSCULAR DYSTROPHY CAUSED BY A NOVEL MUTATION R225Q IN THE LAMIN A/C GENE IDENTIFIED BY EXOME SEQUENCING ADRIANO JIMENEZ-ESCRIG, MD, PhD,1,2 ISABEL GOB[r] ...

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Vigorexia o dismorfia muscular

Vigorexia o dismorfia muscular

... “Dismorfia Muscular” o “Vigorexia”, descripta como la preocupación crónica por verse pequeño e insuficientemente musculado, lo que alcanza su máxima expresión en actividades como el fisioculturismo y el ...

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Electroterapia en fortalecimiento muscular

Electroterapia en fortalecimiento muscular

... fuerza muscular y la velocidad que se imponga a ...fibra muscular en una contracción máxima está en dependencia del número de puentes que tenga establecidos la actina y la miosina y también la fibra ...

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Cada abrupta del tono muscular al entrar a sueo MOR en el ser humano

Cada abrupta del tono muscular al entrar a sueo MOR en el ser humano

... of muscular tone for scoring the start of REM sleep and for sleep disorders —such as narcolepsy and REM sleep behavioral disorder, where loss of muscle tone or the lack of it is implicated—, very few quantitative ...

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