Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ronit Sethi"'
Autor:
Debolina D. Biswas, Ronit Sethi, Yochebed Woldeyohannes, Evelyn R. Scarrow, Léa El Haddad, Jane Lee, Mai K. ElMallah
Publikováno v:
Frontiers in Physiology, Vol 15 (2024)
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that results in death within 2–5 years of diagnosis. Respiratory failure is the most common cause of death in ALS. Mutations in the transactive response DNA binding prot
Externí odkaz:
https://doaj.org/article/22969ab8797643549261bd5b03bca29d
Autor:
Angela L. Roger, Ronit Sethi, Meredith L. Huston, Evelyn Scarrow, Joy Bao-Dai, Elias Lai, Debolina D. Biswas, Léa El Haddad, Laura M. Strickland, Priya S. Kishnani, Mai K. ElMallah
Publikováno v:
Expert Opinion on Biological Therapy. 22:1117-1135
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid-α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. A lack of GAA leads to accumulation of glycogen in the lysosomes of cardiac, skeletal, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c2e853a11ccbf32b203789f8a0b7474
https://doi.org/10.1080/14712598.2022.2067476
https://doi.org/10.1080/14712598.2022.2067476
Autor:
Debolina D. Biswas, Léa El Haddad, Ronit Sethi, Meredith L. Huston, Elias Lai, Mariam M. Abdelbarr, Doreen Z. Mhandire, Mai K. ElMallah
Publikováno v:
Journal of the neurological sciences. 443
The spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders with an autosomal dominant inheritance. Symptoms include poor coordination and balance, peripheral neuropathy, impaired vision, incontinence, respiratory insuf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af848cd7a77ae2f37583745acda5e9fb
https://pubmed.ncbi.nlm.nih.gov/36410186
https://pubmed.ncbi.nlm.nih.gov/36410186
Accumulation of pathological Ataxin‐7 in the medulla leads to hypoglossal (XII) motor unit pathology
Autor:
Debolina D. Biswas, Laura M. Strickland, Justin S. Dhindsa, Yihan Shi, Ronit Sethi, Sean Kehoe, Elias X. Lai, Meredith L. Huston, Evelyn R. Scarrow, Mai K. ElMallah
Publikováno v:
The FASEB Journal. 36
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::558cda9fe137b0d92a3b0f5682756009
https://doi.org/10.1096/fasebj.2022.36.s1.r2442
https://doi.org/10.1096/fasebj.2022.36.s1.r2442