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Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism Sarveswaran, Nivedita; Pamela, Yunisa; Reddy, Akhila A. N.; Mustari, Akash P.; Parthasarathi, Anchala; Mancini, Anthony J.; Bishnoi, Anuradha; Inamadar, Arun C.; Olabi, Bayanne; Browne, Fiona; Deshmukh, Gargi N.; McWilliam, Kenneth; Vinay, Keshavamurthy; Srinivas, Sahana; Ibbs, Samantha; Natarajan, Sivakumar; Rao, Vadlamudi R.; Zawar, Vijay; Gowda, Vykuntaraju K.; Shaikh, Samiha S.; Moss, Celia; Woods, Christopher G.; Drissi, Ichrak 分享 收藏
Evidence of a genetic background predisposing to complex regional pain syndrome type 1 Shaikh, Samiha S.; Goebel, Andreas; Lee, Michael C.; Nahorski, Michael S.; Shenker, Nicholas; Pamela, Yunisa; Drissi, Ichrak; Brown, Christopher; Ison, Gillian; Shaikh, Maliha F.; Kuttikat, Anoop; Woods, William A.; Dixit, Abhishek; Stouffer, Kaitlin; Clarke, Murray C. H.; Menon, David K.; Woods, C. Geoffrey 分享 收藏
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Lischka, Annette; Eggermann, Katja; Record, Christopher J.; Dohrn, Maike F.; Lassuthova, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Soukalova, Jana; Laura, Matilde; Rossor, Alexander M.; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J.; Ungelenk, Martin; Debus, Karlien Y.; Feely, Shawna M. E.; Glaeser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M.; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramirez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sanchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques Junior, Wilson; Mercier, Sandra; Procaccio, Vincent; Bris, Celine; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M.; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J.; Mueller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B.; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgul, Behiye S.; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Joerg B.; Wood, John N.; Cox, James J.; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C.; Shy, Michael; Bennett, David L.; Baets, Jonathan; Huebner, Christian A.; Leipold, Enrico; Zuchner, Stephan; Elbracht, Miriam; Cakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C. Geoffrey; Reilly, Mary M.; Kurth, Ingo 分享 收藏
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort Themistocleous, Andreas C.; Baskozos, Georgios; Blesneac, Iulia; Comini, Maddalena; Megy, Karyn; Chong, Sam; Deevi, Sri V. V.; Ginsberg, Lionel; Gosal, David; Hadden, Robert D. M.; Horvath, Rita; Mahdi-Rogers, Mohamed; Manzur, Adnan; Mapeta, Rutendo; Marshall, Andrew; Matthews, Emma; McCarthy, Mark, I; Reilly, Mary M.; Renton, Tara; Rice, Andrew S. C.; Vale, Tom A.; van Zuydam, Natalie; Walker, Suellen M.; Woods, Christopher Geoffrey; Bennett, David L. H. 分享 收藏
Genetic pain loss disorders 遗传性疼痛丧失障碍 Lischka, Annette; Lassuthova, Petra; cakar, Arman; Record, Christopher J.; Van Lent, Jonas; Baets, Jonathan; Dohrn, Maike F.; Senderek, Jan; Lampert, Angelika; Bennett, David L.; Wood, John N.; Timmerman, Vincent; Hornemann, Thorsten; Auer-Grumbach, Michaela; Parman, Yesim; Huebner, Christian A.; Elbracht, Miriam; Eggermann, Katja; Geoffrey Woods, C.; Cox, James J.; Reilly, Mary M.; Kurth, Ingo 分享 收藏
Nav1.7 is required for normal C-low threshold mechanoreceptor function in humans and mice Middleton, Steven J.; Perini, Irene; Themistocleous, Andreas C.; Weir, Greg A.; McCann, Kirsty; Barry, Allison M.; Marshall, Andrew; Lee, Michael; Mayo, Leah M.; Bohic, Manon; Baskozos, Georgios; Morrison, India; Loken, Line S.; McIntyre, Sarah; Nagi, Saad S.; Staud, Roland; Sehlstedt, Isac; Johnson, Richard D.; Wessberg, Johan; Wood, John N.; Woods, Christopher G.; Moqrich, Aziz; Olausson, Hakan; Bennett, David L. 分享 收藏
Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel Kv6.4 Subunit 人类分娩疼痛受电压门控钾通道Kv6.4亚基的影响 Lee, Michael C.; Nahorski, Michael S.; Hockley, James R. F.; Lu, Van B.; Ison, Gillian; Pattison, Luke A.; Callejo, Gerard; Stouffer, Kaitlin; Fletcher, Emily; Brown, Christopher; Drissi, Ichrak; Wheeler, Daniel; Ernfors, Patrik; Menon, David; Reimann, Frank; Smith, Ewan St John; Woods, C. Geoffrey 分享 收藏
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features Buratti, Julien; Ji, Lei; Keren, Boris; Lee, Youngha; Booke, Stephanie; Erdin, Serkan; Kim, Soo Yeon; Palculict, Timothy Blake; Meiner, Vardiella; Chae, Jong Hee; Woods, Christopher Geoffrey; Tam, Allison; Heron, Delphine; Cong, Feng; Harel, Tamar 分享 收藏
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Prdm12 Directs Nociceptive Sensory Neuron Development by Regulating the Expression of the NGF Receptor TrkA Prdm12通过调节NGF受体TrkA的表达来指导伤害性感觉神经元的发育 Desiderio, Simon; Vermeiren, Simon; Van Campenhout, Claude; Kricha, Sadia; Malki, Elisa; Richts, Sven; Fletcher, Emily, V; Vanwelden, Thomas; Schmidt, Bela Z.; Henningfeld, Kristine A.; Pieler, Tomas; Woods, C. Geoffrey; Nagy, Vanja; Verfaillie, Catherine; Bellefroid, Eric J. 分享 收藏
PEHO syndrome: the endpoint of different genetic epilepsies Chitre, Manali; Nahorski, Michael S.; Stouffer, Kaitlin; Dunning-Davies, Bryony; Houston, Hamish; Wakeling, Emma L.; Brady, Angela F.; Zuberi, Sameer M.; Suri, Mohnish; Parker, Alasdair P. J.; Woods, C. Geoffrey 分享 收藏
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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development 双等位基因UFM1和UFC1突变扩大了ufmylation在大脑发育中的重要作用 Nahorski, Michael S.; Maddirevula, Sateesh; Ishimura, Ryosuke; Alsahli, Saud; Brady, Angela F.; Begemann, Anaies; Mizushima, Tsunehiro; Guzman-Vega, Francisco J.; Obata, Miki; Ichimura, Yoshinobu; Alsaif, Hessa S.; Anazi, Shams; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Monies, Dorota; Abouelhoda, Mohamed; Meyer, Brian F.; Alfadhel, Majid; Eyaid, Wafa; Zweier, Markus; Steindl, Katharina; Rauch, Anita; Arold, Stefan T.; Woods, C. Geoffrey; Komatsu, Masaaki; Alkuraya, Fowzan S. 分享 收藏
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Autosomal recessive primary microcephaly due to ASPM mutations: An update 由于ASPM突变引起的常染色体隐性原发性小头畸形: 更新 Letard, Pascaline; Drunat, Severine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stephanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco-Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Genevieve, David; Gerard, Marion; Gitiaux, Cyril; Julia, Sophie; Lebon, Sebastien; Lubala, Toni; Mathieu-Dramard, Michele; Maurey, Helene; Metreau, Julia; Nasserereddine, Sanaa; Nizon, Mathilde; Pierquin, Genevieve; Pouvreau, Nathalie; Rivier-Ringenbach, Clothilde; Rossi, Massimiliano; Schaefer, Elise; Sefiani, Abdelaziz; Sigaudy, Sabine; Sznajer, Yves; Tunca, Yusuf; Guilmin Crepon, Sophie; Alberti, Corinne; Elmaleh-Berges, Monique; Benzacken, Brigitte; Wollnick, Bernd; Woods, C. Geoffrey; Rauch, Anita; Abramowicz, Marc; El Ghouzzi, Vincent; Gressens, Pierre; Verloes, Alain; Passemard, Sandrine 分享 收藏
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PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins Hall, Emma A.; Nahorski, Michael S.; Murray, Lyndsay M.; Shaheen, Ranad; Perkins, Emma; Dissanayake, Kosala N.; Kristaryanto, Yosua; Jones, Ross A.; Vogt, Julie; Rivagorda, Manon; Handley, Mark T.; Mali, Girish R.; Quidwai, Tooba; Soares, Dinesh C.; Keighren, Margaret A.; McKie, Lisa; Mort, Richard L.; Gammoh, Noor; Garcia-Munoz, Amaya; Davey, Tracey; Vermeren, Matthieu; Walsh, Diana; Budd, Peter; Aligianis, Irene A.; Faqeih, Eissa; Quigley, Alan J.; Jackson, Ian J.; Kulathu, Yogesh; Jackson, Mandy; Ribchester, Richard R.; von Kriegsheim, Alex; Alkuraya, Fowzan S.; Woods, C. Geoffrey; Maher, Eamonn R.; Mill, Pleasantine 分享 收藏
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