Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Tonya, Moss"'
Autor:
Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome (also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dyst
Externí odkaz:
https://doaj.org/article/dbd914df64284d34aa13e99f91cafaa9
Autor:
Maxwell B Colonna, Tonya Moss, Sneha Mokashi, Sujata Srikanth, Julie R Jones, Jackson R Foley, Cindy Skinner, Angie Lichty, Anthony Kocur, Tim Wood, Tracy Murray Stewart, Robert A Casero Jr., Heather Flanagan-Steet, Arthur S Edison, Michael J Lyons, Richard Steet
Publikováno v:
Human Molecular Genetics. 32:732-744
Mono- and bi-allelic variants in ALDH18A1 cause a spectrum of human disorders associated with cutaneous and neurological findings that overlap with both cutis laxa and spastic paraplegia. ALDH18A1 encodes the bifunctional enzyme pyrroline-5-carboxyla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cbbb2275c5e888aa175ac583a5cd72d
https://doi.org/10.1093/hmg/ddac226
https://doi.org/10.1093/hmg/ddac226
Autor:
Tonya, Moss, Melanie, May, Heather, Flanagan-Steet, Raymond, Caylor, Yong-Hui, Jiang, Marie, McDonald, Michael, Friez, Allyn, McConkie-Rosell, Richard, Steet
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Variants in the X-linked gene AIFM1 (apoptosis-inducing factor mitochondria-associated 1) are associated with a highly variable clinical presentation that encompasses motor neuropathy, ataxia, encephalopathies, deafness, and cognitive impairment. AIF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e0fe0c715eb0d52771060670f78e6a18
https://pubmed.ncbi.nlm.nih.gov/34117073
https://pubmed.ncbi.nlm.nih.gov/34117073
Autor:
Anna Fernandez, Carmen Fons, Julie M. Jones, Francesca Cristofoli, Heather Flanagan-Steet, Melanie May, Richard Steet, Gerd Van der Hoeven, Koen Devriendt, Steven A. Skinner, Silvia Maitz, Angelo Selicorni, Hilde Van Esch, Loreto Martorell, Giuseppina Vitiello, Hannah W. Moore, Mathieu Bollen, Tonya Moss, Filip Roelens, Joris Vermeesch
Publikováno v:
Am J Hum Genet
Lamin B1 plays an important role in the nuclear envelope stability, the regulation of gene expression, and neural development. Duplication of LMNB1, or missense mutations increasing LMNB1 expression, are associated with autosomal-dominant leukodystro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c6cd2e5cf3f8a8115a698e99b2c098f
https://europepmc.org/articles/PMC7536573/
https://europepmc.org/articles/PMC7536573/
Autor:
Lynda Holloway, Richard Steet, Tonya Moss, Steve A. Skinner, Seok-Ho Yu, Addison Neighbors, Russell P. Saneto, Fran Annese
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome (also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dystonia, ear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac1a0bbe327f661f5bac002d9d8c8b4
https://doi.org/10.1002/mgg3.1121
https://doi.org/10.1002/mgg3.1121
Autor:
Allyn McConkie-Rosell, Marie T. McDonald, Raymond Caylor, Tonya Moss, Richard Steet, Melanie May, Michael J. Friez, Heather Flanagan-Steet, Yong-Hui Jiang
Publikováno v:
Molecular Case Studies. 7:a006081
Variants in the X-linked gene AIFM1 (apoptosis-inducing factor mitochondria-associated 1) are associated with a highly variable clinical presentation that encompasses motor neuropathy, ataxia, encephalopathies, deafness, and cognitive impairment. AIF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fd2284232b8b491f37d76acb5571d4c9
https://doi.org/10.1101/mcs.a006081
https://doi.org/10.1101/mcs.a006081
Autor:
Tonya Moss, Barbara R. DuPont, John L. Johnson, Frank O. Bartel, Cindy Skinner, Roger E. Stevenson, Charles E. Schwartz, Katherine Berry, Michael J. Friez, Margaret L. Bauman, Julia Butler, Richard J. Simensen, Karl J. Franek
Publikováno v:
American Journal of Medical Genetics Part A. 155:1109-1114
X-Linked intellectual disability accounts for a significant fraction of males with cognitive impairment. Many of these males present with a non-syndromic phenotype and presently mutations in 17 X-linked genes are associated with these patients. Mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605f7440d55c347aa9bf7722a26f9a2b
https://doi.org/10.1002/ajmg.a.33833
https://doi.org/10.1002/ajmg.a.33833