Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Ali B, Naini"'
Autor:
Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, Avinash Dharmadhikari, Subit Barua, Winston Lee, Merry Z. C. Ruan, Megan Soucy, Sara Ragi, Joy Tanaka, Lorraine N. Clark, Ali B. Naini, Jun Liao, Mahesh Mansukhani, Stephen Tsang, Vaidehi Jobanputra
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort
Externí odkaz:
https://doaj.org/article/60c235675b5f4c62a81a925e0d5a5726
Autor:
Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi, Jose Ronaldo Lima de Carvalho, Christine L. Xu, Amanda L. Thomas, Christie M. Buchovecky, Mahesh M. Mansukhani, Ali B. Naini, Jun Liao, Vaidehi Jobanputra, Irene H. Maumenee, Stephen H. Tsang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has also been observed w
Externí odkaz:
https://doaj.org/article/558d0ed72fd84caf809686f06ec0780f
Publikováno v:
Case Reports in Genetics, Vol 2021 (2021)
Mitochondrial DNA (mtDNA) depletion syndromes are a group of autosomal recessive disorders associated with a spectrum of clinical diseases, which include progressive external ophthalmoplegia (PEO). They are caused by variants in nuclear DNA (nDNA) en
Externí odkaz:
https://doaj.org/article/530aba970bae4c4f8bde706d79e970eb
Autor:
Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B. Naini
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 23-27 (2017)
Coenzyme Q10 (CoQ10) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired
Externí odkaz:
https://doaj.org/article/753e2cc8a6654c369b7d2bc8b9a8c4b8
Autor:
Kirsten E Hoff, Karen L DeBalsi, Maria J Sanchez-Quintero, Matthew J Longley, Michio Hirano, Ali B Naini, William C Copeland
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0203198 (2018)
Mutations in mitochondrial DNA (mtDNA) have been linked to a variety of metabolic, neurological and muscular diseases which can present at any time throughout life. MtDNA is replicated by DNA polymerase gamma (Pol γ), twinkle helicase and mitochondr
Externí odkaz:
https://doaj.org/article/df50385706fb4e65b9724f6ee0fdd5d7
Autor:
Amanda, Thomas-Wilson, Avinash V, Dharmadhikari, Jonas J, Heymann, Vaidehi, Jobanputra, Salvatore, DiMauro, Michio, Hirano, Ali B, Naini, Mythily, Ganapathi
Publikováno v:
Cold Spring Harbor molecular case studies. 8(2)
McArdle disease is a debilitating glycogen storage disease with typical onset in childhood. Here, we describe a former competitive athlete with early adult-onset McArdle disease and a septuagenarian with a history of exercise intolerance since adoles
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::91700a7753be46ef6b0bcae5f55cbf4f
https://pubmed.ncbi.nlm.nih.gov/35022222
https://pubmed.ncbi.nlm.nih.gov/35022222
Autor:
Amanda Thomas-Wilson, Avinash V Dharmadhikari, Jonas J Heymann, Vaidehi Jobanputra, Salvatore DiMauro, Michio Hirano, Ali B Naini, Mythily Ganapathi
Publikováno v:
Molecular Case Studies. :mcs.a006173
McArdle disease is a progressive and debilitating glycogen storage disease with typical onset in late childhood. Here we describe a former competitive athlete with early adult onset McArdle disease and a septuagenarian with a history of exercise-into
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e337257d3b571d83b4a7bf561018ad9b
https://doi.org/10.1101/mcs.a006173
https://doi.org/10.1101/mcs.a006173
Autor:
SABRINA SACCONI, LEONARDO SALVIATI, CAROLYN M. SUE, SARA SHANSKE, MERCY M. DAVIDSON, EDUARDO BONILLA, ALI B. NAINI, DARRYL C. DE VIVO, AND, SALVATORE DIMAURO
Publikováno v:
Pediatric Research. 53:224-230
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca97cb4939b7596d49921a62ebbaaadb
https://doi.org/10.1203/00006450-200302000-00005
https://doi.org/10.1203/00006450-200302000-00005
Autor:
Lorenzo, Peverelli, Carl A, Gold, Ali B, Naini, Kurenai, Tanji, H Orhan, Akman, Michio, Hirano, Salvatore, Dimauro
Publikováno v:
Musclenerve. 50(2)
A 61-year-old woman with a 5-year history of progressive muscle weakness and atrophy had a muscle biopsy characterized by a combination of dystrophic features (necrotic fibers and endomysial fibrosis) and mitochondrial alterations [ragged-red, cytoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f2229181acbe43e368d93bf008a9a07f
https://pubmed.ncbi.nlm.nih.gov/24711008
https://pubmed.ncbi.nlm.nih.gov/24711008
Autor:
Leonardo, Salviati, Sabrina, Sacconi, Michelangelo, Mancuso, David, Otaegui, Pilar, Camaño, Alberto, Marina, Simon, Rabinowitz, Rebecca, Shiffman, Karen, Thompson, Claire M, Wilson, Annette, Feigenbaum, Ali B, Naini, Michio, Hirano, Eduardo, Bonilla, Salvatore, DiMauro, Tuan H, Vu
Publikováno v:
Annals of neurology. 52(3)
Mitochondrial DNA depletion syndrome is a clinically heterogeneous group of disorders characterized by a reduction in mitochondrial DNA copy number. The recent discovery of mutations in the deoxyguanosine kinase (dGK) gene in patients with the hepato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3901bd55751259cae9a3429cbd92bb93
https://pubmed.ncbi.nlm.nih.gov/12205643
https://pubmed.ncbi.nlm.nih.gov/12205643