Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Angela, Gruber"'
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100174- (2023)
Externí odkaz:
https://doaj.org/article/2da61d8fb1db4f52bbf7e591d4adfc16
Autor:
Zhiyv Niu, Carly Sabine Pontifex, Sarah Berini, Leslie E. Hamilton, Elie Naddaf, Eric Wieben, Ross A. Aleff, Kristina Martens, Angela Gruber, Andrew G. Engel, Gerald Pfeffer, Margherita Milone
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
ObjectiveThe aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located
Externí odkaz:
https://doaj.org/article/b52b8d2eeaf5408ca25991522ea4a062
Autor:
Angela Gruber, Jens Radü
Publikováno v:
Journalismus und Instagram ISBN: 9783658346027
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc42243a181e880a83272e40f4cc3abf
https://doi.org/10.1007/978-3-658-34603-4_17
https://doi.org/10.1007/978-3-658-34603-4_17
Autor:
William A. Gahl, John D. Heiss, Vandana Singhal, Joseph A. Shrader, Angela Gruber, John Perreault, Prashant Chittiboina, Christina Slota, Aaron Poliak, Christina Hayes, Carla Ciccone, Marjan Huizing, May Christine V. Malicdan, Jennifer Garland, Joshi Stephen, Bradley Class, Ralitza H. Gavrilova, Galen O. Joe, Nuria Carrillo
Publikováno v:
Molecular Genetics & Genomic Medicine. 5:410-417
Background GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)-N-acetylglucosamine (G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64c6152e6e474ac65f435d799e37663d
https://doi.org/10.1002/mgg3.300
https://doi.org/10.1002/mgg3.300
Autor:
Mário Sousa, Julie Rath, Manuela M. Santos, Jorge Oliveira, Emília Vieira, Márcia E. Oliveira, Thomas L. Winder, Angela Gruber, T. Lourenço, José Pedro Vieira, Rosário Santos, Luciano Almendra, I. Fineza, Ana L. Gonçalves, Jocelyn Schroeder, Teresa Coelho, A. Sousa, Manuel Melo-Pires, Johan T. den Dunnen, Márcio Cardoso, Andreas Laner, Luís Negrão, Ricardo Taipa
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thriv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c04cd6b5e71af867bcdbbbc92a1fd80d
https://pubmed.ncbi.nlm.nih.gov/30055037
https://pubmed.ncbi.nlm.nih.gov/30055037
Autor:
Jennifer, Garland, Joshi, Stephen, Bradley, Class, Angela, Gruber, Carla, Ciccone, Aaron, Poliak, Christina P, Hayes, Vandana, Singhal, Christina, Slota, John, Perreault, Ralitza, Gavrilova, Joseph A, Shrader, Prashant, Chittiboina, Galen, Joe, John, Heiss, William A, Gahl, Marjan, Huizing, Nuria, Carrillo, May Christine V, Malicdan
Publikováno v:
Molecular Genetics & Genomic Medicine
Background GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)‐N‐acetylglucosamin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d96e2e9a8cd057c3cfe6d0e2768d956a
https://pubmed.ncbi.nlm.nih.gov/28717665
https://pubmed.ncbi.nlm.nih.gov/28717665
Autor:
Bernhard Brüne, Susanne Arnold, Christian Hugo, Angela Gruber, Sylvia Rost, E. Schulze-Lohoff, R B Sterzel
Publikováno v:
American Journal of Physiology-Renal Physiology. 275:F962-F971
Mesangial cells undergo cell death both by apoptosis and necrosis during glomerular disease. Since nucleotides are released from injured and destroyed cells in the glomerulus, we examined whether extracellular ATP and its receptors may regulate cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a73c28d75c600bdc4bd6d09c3786329f
https://doi.org/10.1152/ajprenal.1998.275.6.f962
https://doi.org/10.1152/ajprenal.1998.275.6.f962
Publikováno v:
Journal of Cardiovascular Magnetic Resonance, Vol 14, Iss Suppl 1, p P196 (2012)
Journal of Cardiovascular Magnetic Resonance
Journal of Cardiovascular Magnetic Resonance
Background The high prevalence of cardiovascular abnormalities in patients (pts.) with systemic lupus erythematosus (SLE) results in an increased risk of premature cardiovascular events. Inflammatory and immunological processes have been associated w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1e22e48aaa2e68a37f57d8d6f38f0a0
https://doaj.org/article/cb0d8f5f9a874ced929cb66b194ad1f3
https://doaj.org/article/cb0d8f5f9a874ced929cb66b194ad1f3