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The Clinical Spectrum of ANO3—Report of a New Family and Literature Review
Percetti, Marco, Zini, Michela, Soliveri, Paola, Cogiamanian, Filippo, Ferrara, Mariarosa, Orunesu, Eva, Ranghetti, Alessandra, Ferrarese, Carlo, Pezzoli, Gianni, Garavaglia, Barbara, Isaias, Ioannis Ugo, Sacilotto, Giorgio
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.03.2024)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.03.2024)
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Both TMEM16F-dependent and TMEM16F-independent pathways contribute to phosphatidylserine exposure in platelet apoptosis and platelet activation
van Kruchten, Roger, Mattheij, Nadine J.A., Saunders, Christine, Feijge, Marion A.H., Swieringa, Frauke, Wolfs, Jef L.N., Collins, Peter W., Heemskerk, Johan W.M., Bevers, Edouard M.
Published in Blood (07.03.2013)
Published in Blood (07.03.2013)
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Genetic Dystonias: Update on Classification and New Genetic Discoveries
Keller Sarmiento, Ignacio Juan, Mencacci, Niccolò Emanuele
Published in Current neurology and neuroscience reports (01.03.2021)
Published in Current neurology and neuroscience reports (01.03.2021)
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ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation
Sarkozy, Anna, Hicks, Debbie, Hudson, Judith, Laval, Steve H., Barresi, Rita, Hilton-Jones, David, Deschauer, Marcus, Harris, Elizabeth, Rufibach, Laura, Hwang, Esther, Bashir, Rumaisa, Walter, Maggie C., Krause, Sabine, van den Bergh, Peter, Illa, Isabel, Pénisson-Besnier, Isabelle, De Waele, Liesbeth, Turnbull, Doug, Guglieri, Michela, Schrank, Bertold, Schoser, Benedikt, Seeger, Jürgen, Schreiber, Herbert, Gläser, Dieter, Eagle, Michelle, Bailey, Geraldine, Walters, Richard, Longman, Cheryl, Norwood, Fiona, Winer, John, Muntoni, Francesco, Hanna, Michael, Roberts, Mark, Bindoff, Laurence A., Brierley, Charlotte, Cooper, Robert G., Cottrell, David A., Davies, Nick P., Gibson, Andrew, Gorman, Gráinne S., Hammans, Simon, Jackson, Andrew P., Khan, Aijaz, Lane, Russell, McConville, John, McEntagart, Meriel, Al-Memar, Ali, Nixon, John, Panicker, Jay, Parton, Matt, Petty, Richard, Price, Christopher J., Rakowicz, Wojtek, Ray, Partha, Schapira, Anthony H., Swingler, Robert, Turner, Chris, Wagner, Kathryn R., Maddison, Paul, Shaw, Pamela J., Straub, Volker, Bushby, Kate, Lochmüller, Hanns
Published in Human mutation (01.08.2013)
Published in Human mutation (01.08.2013)
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Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum
Panadés-de Oliveira, Luísa, Bermejo-Guerrero, Laura, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Cantero Montenegro, Diana, Hernández Lain, Aurelio, Martí, Pilar, Muelas, Nuria, Vilchez, Juan J., Domínguez-González, Cristina
Published in Journal of neurology (01.09.2020)
Published in Journal of neurology (01.09.2020)
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Epigenome-wide DNA methylation patterns associated with fatigue in primary Sjögren’s syndrome
Brække Norheim, Katrine, Imgenberg-Kreuz, Juliana, Jonsdottir, Kristin, Janssen, Emiel A. M., Syvänen, Ann-Christine, Sandling, Johanna K., Nordmark, Gunnel, Omdal, Roald
Published in Rheumatology (Oxford, England) (01.06.2016)
Published in Rheumatology (Oxford, England) (01.06.2016)
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ANO5 mutations in the Dutch limb girdle muscular dystrophy population
van der Kooi, Anneke J., ten Dam, Leroy, Frankhuizen, Wendy S., Straathof, Chiara S.M., van Doorn, Pieter A., de Visser, Marianne, Ginjaar, Ieke B.
Published in Neuromuscular disorders : NMD (01.06.2013)
Published in Neuromuscular disorders : NMD (01.06.2013)
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Genetic disruption of Ano5 leads to impaired osteoclastogenesis for gnathodiaphyseal dysplasia
Liu, Xiu, Wang, Xiaoyu, Ma, Xinrong, Li, Hongyu, Miao, Congcong, Tian, Zhenchuan, Hu, Ying
Published in Oral diseases (01.04.2024)
Published in Oral diseases (01.04.2024)
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Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man
Lahoria, Rajat, Winder, Thomas L., Lui, Jie, Al‐Owain, Mohammed A., Milone, Margherita
Published in Muscle & nerve (01.10.2014)
Published in Muscle & nerve (01.10.2014)
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Assessment of the Olfactory Function in Italian Patients with Type 3 von Willebrand Disease Caused by a Homozygous 253 Kb Deletion Involving VWF and TMEM16B/ANO2
Cenedese, Valentina, Mezzavilla, Massimo, Morgan, Anna, Marino, Renato, Ettorre, Cosimo Pietro, Margaglione, Maurizio, Gasparini, Paolo, Menini, Anna
Published in PloS one (30.01.2015)
Published in PloS one (30.01.2015)
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AB0122 Correlation Studies between Anoctamin 6 Gene Polymorphism and Expression and Ankylosing Spondylitis
Yang, M., Hu, Z., Zhang, Y., Li, Q., Gu, J.
Published in Annals of the rheumatic diseases (01.06.2016)
Published in Annals of the rheumatic diseases (01.06.2016)
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Molecular and functional significance of Ca(2+)-activated Cl(-) channels in pulmonary arterial smooth muscle
Leblanc, Normand, Forrest, Abigail S, Ayon, Ramon J, Wiwchar, Michael, Angermann, Jeff E, Pritchard, Harry A T, Singer, Cherie A, Valencik, Maria L, Britton, Fiona, Greenwood, Iain A
Published in Pulmonary circulation (01.06.2015)
Published in Pulmonary circulation (01.06.2015)
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Molecular and functional significance of Ca2+-activated Cl− channels in pulmonary arterial smooth muscle
Leblanc, Normand, Forrest, Abigail S., Ayon, Ramon J., Wiwchar, Michael, Angermann, Jeff E., Pritchard, Harry A. T., Singer, Cherie A., Valencik, Maria L., Britton, Fiona, Greenwood, Iain A.
Published in Pulmonary circulation (01.06.2015)
Published in Pulmonary circulation (01.06.2015)
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Use of anoctamin as a biomarker for radiation biodosimetry
Year of Publication 10.12.2019
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Use of anoctamin as a biomarker for radiation biodosimetry
Year of Publication 28.11.2017
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Patent