Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Zayd Al Rawi"'
Autor:
Monir Shababi, Caley E. Smith, Sara M. Ricardez Hernandez, Jose Marquez, Zayd Al Rawi, Eric Villalón, K. David Farris, Mona O. Garro-Kacher, Christian L. Lorson
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 23-32 (2021)
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal recessive disorder that develops in infancy and arises from mutation of the immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene. Whereas IGHMBP2 is ubiquitously
Externí odkaz:
https://doaj.org/article/ff8c855825c74815a870d89224bf781b
Autor:
Caley E. Smith, Sara M. Ricardez Hernandez, Christian L. Lorson, Zayd Al Rawi, K. David Farris, Mona O. Garro-Kacher, Monir Shababi, Jose Marquez, Eric Villalón
Publikováno v:
Molecular Therapy - Methods & Clinical Development. 23:23-32
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal recessive disorder that develops in infancy and arises from mutation of the immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene. Whereas IGHMBP2 is ubiquitously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e43815e31102b2793f4470a4c476bde
https://doi.org/10.1016/j.omtm.2021.07.008
https://doi.org/10.1016/j.omtm.2021.07.008
Autor:
Jose Marquez, Zayd Al Rawi, Elizabeth C. Bryda, Daniel J. Davis, Mona O. Garro-Kacher, Caley E. Smith, Christian L. Lorson, Catherine L Smith, Nicole L. Nichols, Amy N Keilholz, Jiude Mao, Eric Villalón, Sara M. Ricardez Hernandez, Toni I. Morcos, Monique A. Lorson
Publikováno v:
Hum Mol Genet
Spinal muscular atrophy with respiratory distress type I (SMARD1) is a neurodegenerative disease defined by respiratory distress, muscle atrophy and sensory and autonomic nervous system defects. SMARD1 is a result of mutations within the IGHMBP2 gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21e310a1294d2dab45144a52ff823d0f
https://doi.org/10.1093/hmg/ddab317
https://doi.org/10.1093/hmg/ddab317
Autor:
Monir Shababi, Caley E. Smith, Sara M. Ricardez Hernandez, Jose Marquez, Zayd Al Rawi, Eric Villalón, K. David Farris, Mona O. Garro-Kacher, Christian L. Lorson
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss, Pp 23-32 (2021)
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss, Pp 23-32 (2021)
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal recessive disorder that develops in infancy and arises from mutation of the immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene. Whereas IGHMBP2 is ubiquitously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b8d55680da5ab8faf3fcd74740ec8cf1
http://europepmc.org/articles/PMC8426477
http://europepmc.org/articles/PMC8426477