Development of models to determine dynamic GNE expression in vivo to aid resolution of sialic acid dysfunction associated with Hereditary Inclusion Body Myopathy [PDF]
, 2010 Dissertação de Mestrado em Biotecnologia para as Ciências da SaúdeOs ácidos siálicos ocorrem maioritariamente como componentes terminais da superfície celular de glicoproteínas e glicolípidos, desempenhando um papel essencial na diversidade biológica dos
Pereira, Sofia Melo
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The Crescent Student Newspaper, November 20, 1998
, 1998 Student Newspaper of George Fox University,https://digitalcommons.georgefox.edu/the_crescent/2204/thumbnail ...
George Fox University Archives
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Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue. [PDF]
Genes (Basel), 2023 Politano L, Santorelli FM.
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Inclusion body myositis: from genetics to clinical trials. [PDF]
J Neurol, 2023 Nagy S, Khan A, Machado PM, Houlden H.
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Myosin Myopathy Presenting as Chronic Progressive External Ophthalmoplegia. [PDF]
Ann Indian Acad Neurol, 2023 Maniyar AMH +5 more
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ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia. [PDF]
Front Neurol, 2022 Wang Y +9 more
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Advanced CO2 removal process control and monitor instrumentation development [PDF]
A progam to evaluate, design and demonstrate major advances in control and monitor instrumentation was undertaken. A carbon dioxide removal process, one whose maturity level makes it a prime candidate for early flight demonstration was investigated.
Dalhausen, M. J. +2 more
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Metabolic Pathways for Natural and Unnatural Sialic Acids [PDF]
, 2018 Carbohydrates, along with lipids, nucleic acids, and amino acids constitute the four main building blocks of life. This thesis will focus on sialic acid, a unique, nine-carbon sugar that is critically important in humans.
Pham, Nam Dinh
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The use of the wire hang test and a novel genotyping method to further determine the M712T mouse model [PDF]
, 2013 Hereditary Inclusion Body Myopathy (HIBM) is a disorder caused by a mutation in the GNE gene. Although there are 60 known mutations, this research study focused on the M712T mutation.
Qubrosi, Mirey
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Hereditary inclusion body myopathy: novel GNE mutations in non-middle eastern patients [PDF]
, 2010 Autosomal recessive Hereditary Inclusion Body Myopathy (HIBM) is a progressive adult onset skeletal muscle wasting disorder characterized by limb weakness with sparing of the quadriceps.
Saechao, Chai Weun
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