Results 11 to 20 of about 206,878 (242)

Hereditary muscular dystrophies [PDF]

open access: yesБюллетень сибирской медицины, 2009
Precise diagnostic of hereditary muscular diseases begins to change during recent years due to genetic achievements. Genetic defects discoveries typical for different clinical variants of muscular dystrophies give opportunity for creation of specific ...
V. B. Doronin, O. B. Doronina
doaj   +2 more sources

Temporal Bayesian classifiers for modelling muscular dystrophy expression data [PDF]

open access: yes, 2006
The analysis of microarray data from time-series experiments requires specialised algorithms, which take the temporal ordering of the data into account. In this paper we explore a new architecture of Bayesian classifier that can be used to understand how
Liu, X   +3 more
core   +6 more sources

Muscular Dystrophy [PDF]

open access: yesPediatrics In Review, 2000
Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation.
  +7 more sources

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

open access: yes, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core   +1 more source

Skeletal muscle in health and disease

open access: yesDisease Models & Mechanisms, 2020
Skeletal muscle fibres are multinucleated cells that contain postmitotic nuclei (i.e. they are no longer able to divide) and perform muscle contraction.
Jennifer Morgan, Terence Partridge
doaj   +1 more source

Establishment of a PBMC-derived induced pluripotent stem cell (NJUCMi001-A) from a patient with LAMA2-related congenital muscular dystrophy (MDC1A) carrying frameshift deletion c.3367delA in LAMA2 gene

open access: yesStem Cell Research, 2022
LAMA2-related congenital muscular dystrophy (MDC1A), the most commonly recognized type of congenital muscular dystrophies, is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Qiang Rui   +5 more
doaj   +1 more source

Psychosis in a Patient with Muscular Dystrophy : Case Report and Literature Review

open access: yesEuropean Psychiatry, 2023
Introduction Knowledge about muscular dystrophies and in particular X-linked inherited disorders such as Duchenne and Becker Muscular Dystrophy has been gradually acquired as more research studies have been conducted to better understand the ...
O. Ali, H. Raai
doaj   +1 more source

Exploiting the full power of temporal gene expression profiling through a new statistical test: Application to the analysis of muscular dystrophy data [PDF]

open access: yes, 2006
Background: The identification of biologically interesting genes in a temporal expression profiling dataset is challenging and complicated by high levels of experimental noise.
de Meijer Emile J   +14 more
core   +1 more source

Dystrophin glycoprotein complex dysfunction:a regulatory link between muscular dystrophy and cancer cachexia [PDF]

open access: yes, 2005
Cachexia contributes to nearly a third of all cancer deaths, yet the mechanisms underlying skeletal muscle wasting in this syndrome remain poorly defined.
Butchbach, Matthew E R   +21 more
core   +1 more source

Muscular Dystrophies [PDF]

open access: yes, 2012
Huge strides have been made in the last two decades in our understanding of muscular dystrophies. This has led to better classification of this group of heterogeneous neuromuscular disorders based on clinical features, investigation results, and ...
S, Sathasivam
core   +2 more sources

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