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The Role of PIEZO2 in Human Mechanosensation
Chesler, Alexander T, Szczot, Marcin, Bharucha-Goebel, Diana, Čeko, Marta, Donkervoort, Sandra, Laubacher, Claire, Hayes, Leslie H, Alter, Katharine, Zampieri, Cristiane, Stanley, Christopher, Innes, A. Micheil, Mah, Jean K, Grosmann, Carla M, Bradley, Nathaniel, Nguyen, David, Foley, A. Reghan, Le Pichon, Claire E, Bönnemann, Carsten G
Published in The New England journal of medicine (06.10.2016)
Published in The New England journal of medicine (06.10.2016)
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Journal Article
Genetic regulatory variation in populations informs transcriptome analysis in rare disease
Mohammadi, Pejman, Castel, Stephane E., Cummings, Beryl B., Einson, Jonah, Sousa, Christina, Hoffman, Paul, Donkervoort, Sandra, Jiang, Zhuoxun, Mohassel, Payam, Foley, A. Reghan, Wheeler, Heather E., Im, Hae Kyung, Bonnemann, Carsten G., MacArthur, Daniel G., Lappalainen, Tuuli
Published in Science (American Association for the Advancement of Science) (18.10.2019)
Published in Science (American Association for the Advancement of Science) (18.10.2019)
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Journal Article
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Oates, Emily C., Rossor, Alexander M., Hafezparast, Majid, Gonzalez, Michael, Speziani, Fiorella, MacArthur, Daniel G., Lek, Monkol, Cottenie, Ellen, Scoto, Mariacristina, Foley, A. Reghan, Hurles, Matthew, Houlden, Henry, Greensmith, Linda, Auer-Grumbach, Michaela, Pieber, Thomas R., Strom, Tim M., Schule, Rebecca, Herrmann, David N., Sowden, Janet E., Acsadi, Gyula, Menezes, Manoj P., Clarke, Nigel F., Züchner, Stephan, Muntoni, Francesco, North, Kathryn N., Reilly, Mary M.
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
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Journal Article
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
Logan, Clare V, Szabadkai, György, Sharpe, Jenny A, Parry, David A, Torelli, Silvia, Childs, Anne-Marie, Kriek, Marjolein, Phadke, Rahul, Johnson, Colin A, Roberts, Nicola Y, Bonthron, David T, Pysden, Karen A, Whyte, Tamieka, Munteanu, Iulia, Foley, A Reghan, Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Abdelhamed, Zakia A, Morgan, Joanne E, Roper, Helen, Santen, Gijs W E, Niks, Erik H, van der Pol, W Ludo, Lindhout, Dick, Raffaello, Anna, De Stefani, Diego, den Dunnen, Johan T, Sun, Yu, Ginjaar, Ieke, Sewry, Caroline A, Hurles, Matthew, Rizzuto, Rosario, Duchen, Michael R, Muntoni, Francesco, Sheridan, Eamonn
Published in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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Journal Article
Lessons Learned From Clinical Studies in Centronuclear Myopathies: The Patient Perspective—A Qualitative Study
Stinissen, Lizan, Böhm, Johann, Bouma, Sietse, van Tienen, Jeno, Fischer, Holger, Hughes, Zak, Lennox, Anne, Ward, Erin, Wood, Marie, Foley, A. Reghan, Oortwijn, Wija, Jungbluth, Heinz, Voermans, Nicol C.
Published in Clinical therapeutics (01.10.2024)
Published in Clinical therapeutics (01.10.2024)
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Journal Article
Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans
Case, Laura K., Liljencrantz, Jaquette, Madian, Nicholas, Necaise, Aaron, Tubbs, Justin, McCall, Micaela, Bradson, Megan L., Szczot, Marcin, Pitcher, Mark H., Ghitani, Nima, Frangos, Eleni, Cole, Jonathan, Bharucha-Goebel, Diana, Saade, Dimah, Ogata, Tracy, Donkervoort, Sandra, Foley, A. Reghan, Bönnemann, Carsten G., Olausson, Håkan, Bushnell, M. Catherine, Chesler, Alexander T.
Published in Nature communications (28.01.2021)
Published in Nature communications (28.01.2021)
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Journal Article
Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort
Bharucha-Goebel, Diana X, Norato, Gina, Saade, Dimah, Paredes, Eduardo, Biancavilla, Victoria, Donkervoort, Sandra, Kaur, Rupleen, Lehky, Tanya, Fink, Margaret, Armao, Diane, Gray, Steven J, Waite, Melissa, Debs, Sarah, Averion, Gilberto, Hu, Ying, Zein, Wadih M, Foley, A Reghan, Jain, Minal, Bönnemann, Carsten G
Published in Brain (London, England : 1878) (29.11.2021)
Published in Brain (London, England : 1878) (29.11.2021)
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Journal Article
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
Johnson, Janel O., Gibbs, J. Raphael, Megarbane, Andre, Urtizberea, J. Andoni, Hernandez, Dena G., Foley, A. Reghan, Arepalli, Sampath, Pandraud, Amelie, Simón-Sánchez, Javier, Clayton, Peter, Reilly, Mary M., Muntoni, Francesco, Abramzon, Yevgeniya, Houlden, Henry, Singleton, Andrew B.
Published in Brain (London, England : 1878) (01.09.2012)
Published in Brain (London, England : 1878) (01.09.2012)
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Journal Article
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes
Maio, Nunziata, Orbach, Rotem, Zaharieva, Irina T., Töpf, Ana, Donkervoort, Sandra, Munot, Pinki, Mueller, Juliane, Willis, Tracey, Verma, Sumit, Peric, Stojan, Krishnakumar, Deepa, Sudhakar, Sniya, Foley, A. Reghan, Silverstein, Sarah, Douglas, Ganka, Pais, Lynn, DiTroia, Stephanie, Grunseich, Christopher, Hu, Ying, Sewry, Caroline, Sarkozy, Anna, Straub, Volker, Muntoni, Francesco, Rouault, Tracey A., Bönnemann, Carsten G.
Published in The Journal of clinical investigation (17.06.2024)
Published in The Journal of clinical investigation (17.06.2024)
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Journal Article
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B., Enns, Gregory M., Manning, Melanie, Krause, Amanda, Salih, Mustafa A., Walsh, Christopher A., Hurles, Matthew, Campbell, Kevin P., Manzini, M. Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Journal Article
Ethical challenges for a new generation of early-phase pediatric gene therapy trials
Iyer, Alexander A., Saade, Dimah, Bharucha-Goebel, Diana, Foley, A. Reghan, Averion, Gilberto ‘Mike’, Paredes, Eduardo, Gray, Steven, Bönnemann, Carsten G., Grady, Christine, Hendriks, Saskia, Rid, Annette
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
Anti–3‐hydroxy‐3‐methylglutaryl‐coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child
Mohassel, Payam, Foley, A. Reghan, Donkervoort, Sandra, Fequiere, Pierre R., Pak, Katherine, Bönnemann, Carsten G., Mammen, Andrew L.
Published in Muscle & nerve (01.12.2017)
Published in Muscle & nerve (01.12.2017)
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Journal Article
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
Foley, A. Reghan, Zou, Yaqun, Dunford, James E., Rooney, Jachinta, Chandra, Goutam, Xiong, Hui, Straub, Volker, Voit, Thomas, Romero, Norma, Donkervoort, Sandra, Hu, Ying, Markello, Thomas, Horn, Adam, Qebibo, Leila, Dastgir, Jahannaz, Meilleur, Katherine G., Finkel, Richard S., Fan, Yanbin, Mamchaoui, Kamel, Duguez, Stephanie, Nelson, Isabelle, Laporte, Jocelyn, Santi, Mariarita, Malfatti, Edoardo, Maisonobe, Thierry, Touraine, Philippe, Hirano, Michio, Hughes, Imelda, Bushby, Kate, Oppermann, Udo, Böhm, Johann, Jaiswal, Jyoti K., Stojkovic, Tanya, Bönnemann, Carsten G.
Published in Annals of Neurology (01.08.2020)
Published in Annals of Neurology (01.08.2020)
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Journal Article
NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease
Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Published in Cell reports (Cambridge) (27.06.2013)
Published in Cell reports (Cambridge) (27.06.2013)
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Journal Article
Natural history of pulmonary function in collagen VI-related myopathies
Foley, A. Reghan, Quijano-Roy, Susana, Collins, James, Straub, Volker, McCallum, Michelle, Deconinck, Nicolas, Mercuri, Eugenio, Pane, Marika, D’Amico, Adele, Bertini, Enrico, North, Kathryn, Ryan, Monique M., Richard, Pascale, Allamand, Valérie, Hicks, Debbie, Lamandé, Shireen, Hu, Ying, Gualandi, Francesca, Auh, Sungyoung, Muntoni, Francesco, Bönnemann, Carsten G.
Published in Brain (London, England : 1878) (01.12.2013)
Published in Brain (London, England : 1878) (01.12.2013)
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Journal Article
Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy
Chan, Sophelia H.S., Foley, A. Reghan, Phadke, Rahul, Mathew, Ann Agnes, Pitt, Matthew, Sewry, Caroline, Muntoni, Francesco
Published in Neuromuscular disorders : NMD (01.08.2014)
Published in Neuromuscular disorders : NMD (01.08.2014)
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Journal Article
An ultrafast system for signaling mechanical pain in human skin
Nagi, Saad S., Marshall, Andrew G., Makdani, Adarsh, Jarocka, Ewa, Liljencrantz, Jaquette, Ridderström, Mikael, Shaikh, Sumaiya, O’Neill, Francis, Saade, Dimah, Donkervoort, Sandra, Foley, A. Reghan, Minde, Jan, Trulsson, Mats, Cole, Jonathan, Bönnemann, Carsten G., Chesler, Alexander T., Bushnell, M. Catherine, McGlone, Francis, Olausson, Håkan
Published in Science advances (2019)
Published in Science advances (2019)
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Journal Article