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Muscular dystrophy
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Ebook "Cell-penetrating peptides: Methods and protocols" is divided into three parts, summarizing the most important areas of CPP research and hopefully raising relevant questions for further development. Part I briefly presents the historical background of CPP studies and the classifications of the available CPPs, and then summarizes the approaches for prediction of novel CPPs. An overview of penetration studies is also included due to the importance of this CPP for the whole field.
489p
dongmelo
27-05-2024
6
2
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Ebook "Stem cells in modeling human genetic diseases" examples of the use of iPS cell technology, a recent Nobel Prize-winning scientific breakthrough, to obtain patient-specific pluripotent cells from which many types of specialized cells involved in a particular disease can be generated, including psychiatric and neurodegenerative disorders, muscular dystrophies, laminopathies, among others.
157p
ladongphongthanh1008
22-04-2024
6
2
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Ebook "Muscle gene therapy" will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients.
281p
tracanhphuonghoa1007
22-04-2024
3
1
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The phenotypic severity of congenital muscular dystrophy-dystroglycanopathy (MDDG) syndromes associated with aberrant glycosylation of α-dystroglycan ranges from the severe Walker-Warburg syndrome or muscle-eye-brain disease to mild, late-onset, isolated limb-girdle muscular dystrophy without neural involvement.
11p
vioraclene
31-03-2024
3
2
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Massively parallel DNA sequencing, such as exome sequencing, has become a routine clinical procedure to identify pathogenic variants responsible for a patient’s phenotype. Exome sequencing has the capability of reliably identifying inherited and de novo single-nucleotide variants, small insertions, and deletions.
11p
vioraclene
31-03-2024
3
1
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Mutations in the DMD gene encoding dystrophin—a critical structural element in muscle cells— cause Duchenne muscular dystrophy (DMD), which is the most common fatal genetic disease. Clustered regularly interspaced short palindromic repeat (CRISPR)-mediated gene editing is a promising strategy for permanently curing DMD.
19p
vibransone
28-03-2024
5
2
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Ebook "Stem cells in animal species: From pre-clinic to biodiversity" focuses on stem cell research and disease modeling in non-murine species. The book is divided into three parts: Stem Cells for Pre-Clinical Models, Stem Cells in Non-Conventional Species, and Stem Cell Banking for the Future. The first section presents an overview of the different pre-clinical stem cell models recently created in animal species, including the porcine model for heart failure, iPSC in large animal species, Duchenne muscular dystrophy and canine embryo-derived stem cells and modeling for human diseases.
192p
manmanthanhla0201
26-02-2024
6
1
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Merosin-deficient congenital muscular dystrophy (MDCMD) is a progressive autosomal recessive disorder caused by the lack of expression of the α2-chain of laminin-211 glycoprotein. The defect results in skeletal muscle dysfunction with severe muscle weakness, hypotonia, proximal joint contractures, facial dysmorphism, and late or failed ambulation.
5p
viintuit
26-09-2023
0
0
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Collagen type VI-related disorders consist of Ullrich congenital muscular dystrophies (UCMD) and Bethlem myopathy, in which these entities are at two opposite extremes of the phenotype continuum. Clinical characteristics include proximal joint contracture, distal joint hyperlaxity, generalized muscle weakness, normal cognitive function, and pulmonary insufficiency.
9p
vimulcahy
18-09-2023
3
3
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Anesthesia-associated rhabdomyolysis is a rare complication of surgery that causes postoperative myalgia, weakness, and potential renal failure if not managed promptly. Predisposing conditions that may lead to this complication include muscular dystrophies and myopathies.
4p
vigamora
23-05-2023
5
3
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The clinical presentations of each patient in this study are different from each other, demonstrating the intrafamilial phenotypic variability of this mutation. Early identification of the underlying genetic course of the disease by sequencing, combined with clinical findings provides solid evidence to diagnosis process, genetic counseling and management strategy.
9p
vicaptainmarvel
21-04-2023
4
2
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The goal of this study is to identify the hub genes for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) via weighted correlation network analysis (WGCNA). The gene expression profile of vastus lateralis biopsy samples obtained in 17 patients with DMD, 11 patients with BMD and 6 healthy individuals was downloaded from the Gene Expression Omnibus (GEO) database (GSE109178).
12p
vihagrid
30-01-2023
7
3
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Continued part 1, part 2 of ebook "Textbook for MRCOG-1: Basic sciences in obstetrics and gynaecology" provide readers with content about: embryology; genetics; biophysics; epidemiology/statistics; endocrinology; pharmacology; obstetrics; gynaecology; stress urinary incontinence; sexually transmitted infections;... Please refer to the part 2 of ebook for details!
247p
duonghoanglacnhi
07-11-2022
19
7
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Autism spectrum disorder (ASD) is a common neurodevelopmental disorder that tends to co-occur with other diseases, including asthma, inflammatory bowel disease, infections, cerebral palsy, dilated cardiomyopathy, muscular dystrophy, and schizophrenia. However, the molecular basis of this co-occurrence, and whether it is due to a shared component that influences both pathophysiology and environmental triggering of illness, has not been elucidated.
19p
viaristotle
29-01-2022
32
0
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Limb-girdle muscular dystrophies (LGMDs) belong to few neuromuscular disorders mainly involving pelvic and shoulder girdle muscles. Also, cardiac or pulmonary complications, increased rhabdomyolysis risk when exposed to volatile anesthetics and succinylcholine may increase anesthesia related risks.
6p
vizhangzhidong
29-12-2021
11
0
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This review examines DGC remodeling as a common denominator in diseases affecting heart function and health. Dystrophin and the DGC serve as broad cytoskeletal integrators that are critical for maintaining stability of muscle membranes. The presence of pathogenic variants in genes encoding proteins of the DGC can cause absence of the protein and/or alterations in other complex members leading to muscular dystrophies.
20p
lazzaro
30-12-2021
8
0
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Ataluren is a relatively new treatment for male patients with Duchenne muscular dystrophy (DMD) due to a premature stop codon. Long-term longitudinal data as well as efficacy data on non-ambulant patients are still lacking.
10p
vimackenziebezos
30-11-2021
6
1
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This study expands the breadth of congenital muscular dystrophies research landcape and underscores the efficiency of WES in investigating the etiology of this group of heterogeneous diseases. Insight about the underlying genetic causes could contribute to develop a well-timed treatment regimen and help patients make an informed decision about reproductive health.
9p
spiritedaway36
25-11-2021
10
2
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Muscle fatigue, weakness and atrophy are basilar clinical features that accompany facioscapulohumeral dystrophy (FSHD) the third most common muscular dystrophy. A mixed exercise program combined with nutritional supplementation can be safely used with beneficial effects in selected patients with FSHD.
6p
viannito2711
20-04-2021
8
2
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Facioscapulohumeral muscular dystrophy (FSHD) is a patchy and slowly progressive disease of skeletal muscle. For MRI to be a useful biomarker in an FSHD clinical trial, it should reliably detect changes over relatively short time-intervals (~ 1 year).
11p
vianttinic2711
20-04-2021
5
1
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