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pro vyhledávání: '"Sarah Moldt"'
Autor:
Kristen N. Wong, Melissa McIntyre, Sabina Cook, Kim Hart, Amelia Wilson, Sarah Moldt, Andreas Rohrwasser, Russell J. Butterfield
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 54 (2024)
Spinal muscular atrophy (SMA) is an autosomal recessive condition characterized by alpha motor neuron degeneration in the spinal cord anterior horn. Clinical symptoms manifest in the first weeks to months of life in the most severe cases, resulting i
Externí odkaz:
https://doaj.org/article/7efbce1f4e0e4fc3bc7fb7f10d970352
Publikováno v:
bioRxiv
Fascioscapulohumeral muscular dystrophy (FSHD) is caused by a unique genetic mechanism that relies on contraction and hypomethylation of the D4Z4 macrosatellite array on the chromosome 4q telomere allowing ectopic expression of theDUX4gene in skeleta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f5fb623d8296a2d98f90906076e46d
https://europepmc.org/articles/PMC9949141/
https://europepmc.org/articles/PMC9949141/
