Progressive Muscular Dystrophies
Mostrando 1-12 de 15 artigos, teses e dissertações.
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1. Neuromuscular disorders: genes, genetic counseling and therapeutic trials
Abstract Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes re
Genet. Mol. Biol.. Publicado em: 2016-09
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2. Neurotrophins, cytokines, oxidative parameters and funcionality in Progressive Muscular Dystrophies
Nós investigamos os níveis do Fator Neurotrófico Derivado do Cérebro (BDNF), citosinas e parâmetros oxidativos em soro e correlacionamos com a idade e funcionalidade dos pacientes com Distrofias Musculares Progressivas (PMD). Os pacientes foram separados em seis grupos (casos e controles pareados por idade e sexo), como segue: Distrofia Muscular de Duch
An. Acad. Bras. Ciênc.. Publicado em: 17/04/2015
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3. Distrofia muscular de cinturas em crianças brasileiras: caracterização clínica, histologia e molecular
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes. Autosomal recessive dystrophy is far more common than autosomal dominant dystrophy, particularly in children. The clinical course in this group is characterized by progressive prox
Arq. Neuro-Psiquiatr.. Publicado em: 2014-06
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4. Avaliação do potencial terapêutico de células-tronco mesenquimais do cordão umbilical humano associadas ao IGF-1 para distrofias musculares progressivas / Potential cell therapy for progressive muscular dystrophies using mesenchymal stem cells associated to IGF-1
As Distrofias Musculares Progressivas constituem um grupo de doenças genéticas caracterizadas por uma degeneração progressiva e irreversível da musculatura esquelética. As diferentes abordagens terapêuticas propostas para esse grupo de doenças têm como enfoque restaurar a proteína muscular deficiente por meio da terapia celular ou terapia gênica,
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 01/12/2011
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5. Avaliação do potencial terapêutico de células-tronco de tecido adiposo para doenças neuromusculares progressivas / Potential cell therapy for progressive muscular dystrophies using human adipose-derived stem cells
As Distrofias Musculares Progressivas (DMP) constituem um grupo de doenças genéticas caracterizadas por uma degeneração progressiva e irreversível da musculatura esquelética. A Distrofia Muscular de Duchenne (DMD) é a forma mais comum e grave de DMP. Obedece a herança recessiva ligada ao X e é caracterizada pela ausência de distrofina na membrana d
Publicado em: 2011
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6. Avaliação do padrão de degeneração e regeneração muscular em diferentes modelos murinos para distrofias musculares progressivas / Study of degeneration and regeneration pathways, in mice models for muscular dystrophies
The muscular dystrophies are a heterogeneous group of genetic diseases characterized by progressive and irreversible degeneration of skeletal muscles. Muscle weakness is the consequence of an imbalance between successive cycles of degeneration and regeneration, with further replacement of the degraded muscle fibers by adipose and connective tissues. Several
Publicado em: 2009
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7. Influência da distrofia muscular do Golden Retriever (GRMD) na viabilidade espermática e nas características morfológicas do aparelho reprodutivo masculino / Influence of Golden Retriever muscular dystrophy (GRMD) on sperm viability and on morphologic characteristics of the male reproductive tract
Muscular dystrophies constitute a group of diseases characterized by progressive and irreversible muscle degeneration. Duchenne´s Muscular Dystrophy (DMD) is a lethal myopathy caused by dystrophin deficiency, a muscular cell cytoskeleton protein. The dystrophin gene have recessive characteristic and is located in the p21 portion of the X chromosome. Advance
Publicado em: 2009
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8. Distrofias musculares progressivas de cinturas tipo 2: perfil epidemiolÃgico no estado do Cearà / Muscular Dystrophies progressive of waists type 2: profile epidemiologist in the state of CearÃ, Northeast of Brazil
Objective: To report the clinical and muscle biopsy findings from the recessive forms of limb girdle muscular dystrophies (LGMD type 2) seen in the state of CearÃ, Northeast of Brazil. Design: Case series. Setting: Tertiary care clinic, University hospital. Patients and Methods: We studied 41 patients from 32 families with chronic progressive weakness in a
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 26/09/2008
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9. Protein defects in neuromuscular diseases
Muscular dystrophies are a heterogeneous group of genetically determined progressive disorders of the muscle with a primary or predominant involvement of the pelvic or shoulder girdle musculature. The clinical course is highly variable, ranging from severe congenital forms with rapid progression to milder forms with later onset and a slower course. In recent
Brazilian Journal of Medical and Biological Research. Publicado em: 2003-05
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10. Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.
Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 are responsible for a subset of the muscular dystrophies. In this study we aim to characterise the nature and frequency of abnormalities of these proteins in an Australian population and to formulate an investigative algorithm to aid in approaching the diagnosis of the muscular dystrophies. To
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11. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.
BACKGROUND: The autosomal recessive limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscle diseases characterised by progressive proximal limb muscle weakness. Six different loci have been mapped and pathogenetic mutations in the genes encoding the sarcoglycan complex components (alpha-, beta-, gamma-, and delta-sarcoglycan)
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12. Partial gene duplication in Duchenne and Becker muscular dystrophies.
Duchenne and Becker muscular dystrophies (DMD and BMD) are progressive muscle wasting disorders with an X linked recessive mode of inheritance. We have surveyed 120 unrelated patients with DMD or BMD for gene duplications using a series of genomic probes from within the DMD/BMD gene locus. In three patients, two with DMD and one with BMD, a duplicated region