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Mostrando ítems 411-420 de 836
Distribution of calcitonin gene-related peptide at the neuromuscular junction of mdx mice
(Wiley-lissHobokenEUA, 2004)
Fiber Type Composition of the Sternomastoid and Diaphragm Muscles of Dystrophin-Deficient mdx Mice
(Wiley-lissHobokenEUA, 2010)
Acetylcholine receptors and neuronal nitric oxide synthase distribution at the neuromuscular junction of regenerated muscle fibers
(John Wiley & Sons IncNew YorkEUA, 2001)
Alterations in the permeability of dystrophic fibers during neuromuscular junction development
(Akademiai KiadoBudapestHungria, 2007)
Acetylcholine receptor organization at the dystrophic extraocular muscle neuromuscular junction
(Wiley-lissHobokenEUA, 2007)
Acetylcholine receptor distribution and synapse elimination at the developing neuromuscular junction of mdx mice
(John Wiley & Sons IncHobokenEUA, 2003)
International retrospective natural history study of LMNA-related congenital muscular dystrophy
(Oxford University Press, 2021)
Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and
severity with an age of onset ranging from the neonatal period to adulthood. The natural history ...
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene
(Elsevier Science, 2016-06)
Dystrophinopathies are X-linked recessive diseases caused by mutations in the DMD gene. Our objective was to identify mutations in this gene by Multiplex Ligation Probe Amplification (MLPA), to confirm the clinical diagnosis ...
Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort
(Pergamon-Elsevier Science Ltd, 2018-12)
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical ...
Smaug variants in neural and non-neuronal cells
(Taylor & Francis, 2016-02)
Mammalian Smaug1/Samd4a is an mRNA regulator involved in synapse plasticity and additional non-neuronal functions. Here we analyzed the expression of Smaug1/Samd4a variants and Smaug2/Samd4b in primary hippocampal neurons ...