未登录 Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome O'Connor, Emily; Topf, Ana; Muller, Juliane S.; Cox, Daniel; Evangelista, Teresinha; Colomer, Jaume; Abicht, Angela; Senderek, Jan; Hasselmann, Oswald; Yaramis, Ahmet; Laval, Steven H.; Lochmuller, Hanns 分享 收藏
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Dystrophin quantification Biological and translational research implications Anthony, Karen; Arechavala-Gomeza, Virginia; Taylor, Laura E.; Vulin, Adeline; Kaminoh, Yuuki; Torelli, Silvia; Feng, Lucy; Janghra, Narinder; Bonne, Gisele; Beuvin, Maud; Barresi, Rita; Henderson, Matt; Laval, Steven; Lourbakos, Afrodite; Campion, Giles; Straub, Volker; Voit, Thomas; Sewry, Caroline A.; Morgan, Jennifer E.; Flanigan, Kevin M.; Muntoni, Francesco 分享 收藏
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy Nicole, Sophie; Chaouch, Amina; Torbergsen, Torberg; Bauche, Stephanie; de Bruyckere, Elodie; Fontenille, Marie-Josephine; Horn, Morten A.; van Ghelue, Marijke; Loseth, Sissel; Issop, Yasmin; Cox, Daniel; Mueller, Juliane S.; Evangelista, Teresinha; Stalberg, Erik; Ioos, Christine; Barois, Annie; Brochier, Guy; Sternberg, Damien; Fournier, Emmanuel; Hantai, Daniel; Abicht, Angela; Dusl, Marina; Laval, Steven H.; Griffin, Helen; Eymard, Bruno; Lochmueller, Hanns 分享 收藏
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 Cossins, Judith; Belaya, Katsiaryna; Hicks, Debbie; Salih, Mustafa A.; Finlayson, Sarah; Carboni, Nicola; Liu, Wei Wei; Maxwell, Susan; Zoltowska, Katarzyna; Farsani, Golara Torabi; Laval, Steven; Seidhamed, Mohammed Zain; Donnelly, Peter; Bentley, David; McGowan, Simon J.; Mueller, Juliane; Palace, Jacqueline; Lochmueller, Hanns; Beeson, David 分享 收藏
Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect Senderek, Jan; Mueller, Juliane S.; Dusl, Marina; Strom, Tim M.; Guergueltcheva, Velina; Diepolder, Irmgard; Laval, Steven H.; Maxwell, Susan; Cossins, Judy; Krause, Sabine; Muelas, Nuria; Vilchez, Juan J.; Colomer, Jaume; Jimenez Mallebrera, Cecilia; Nascimento, Andres; Nafissi, Shahriar; Kariminejad, Ariana; Nilipour, Yalda; Bozorgmehr, Bita; Najmabadi, Hossein; Rodolico, Carmelo; Sieb, Joern P.; Steinlein, Ortrud K.; Schlotter, Beate; Schoser, Benedikt; Kirschner, Janbernd; Herrmann, Ralf; Voit, Thomas; Oldfors, Anders; Lindbergh, Christopher; Urtizberea, Andoni; von der Hagen, Maja; Huebner, Angela; Palace, Jacqueline; Bushby, Kate; Straub, Volker; Beeson, David; Abicht, Angela; Lochmueller, Hanns 分享 收藏
Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients Durmus, H.; Laval, S. H.; Deymeer, F.; Parman, Y.; Kiyan, E.; Gokyigiti, M.; Ertekin, C.; Ercan, I.; Solakoglu, S.; Karcagi, V.; Straub, V.; Bushby, K.; Lochmueller, H.; Serdaroglu-Oflazer, P. 分享 收藏
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Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue Hicks, D.; Lampe, A. K.; Laval, S. H.; Allamand, V.; Jimenez-Mallebrera, C.; Walter, M. C.; Muntoni, F.; Quijano-Roy, S.; Richard, P.; Straub, V.; Lochmueller, H.; Bushby, K. M. D. 分享 收藏
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy Chiu, Yen-Hui; Hornsey, Mark A.; Klinge, Lars; Jorgensen, Louise H.; Laval, Steven H.; Charlton, Richard; Barresi, Rita; Straub, Volker; Lochmuller, Hanns; Bushby, Kate 分享 收藏
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance Lampe, A. K.; Zou, Y.; Sudano, D.; O'Brien, K. K.; Hicks, D.; Laval, S. H.; Charlton, R.; Jimenez-Mallebrera, C.; Zhang, R. -Z.; Finkel, R. S.; Tennekoon, G.; Schreiber, G.; van der Knaap, M. S.; Marks, H.; Straub, V.; Flanigan, K. M.; Chu, M. -L.; Muntoni, F.; Bushby, K. M. D.; Boennemann, C. G. 分享 收藏
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AHNAR, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration Huang, Yanchao; Laval, Steven H.; van Remoortere, Alexandra; Baudier, Jacques; Benaud, Chriselle; Anderson, Louise V. B.; Straub, Volker; Deelder, Andre; Frants, Rune R.; den Dunnen, Johan T.; Bushby, Kate; van der Maarel, Silvere M. 分享 收藏
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Whole-genome screening in ankylosing spondylitis: Evidence of non-MHC genetic-susceptibility loci Laval, SH; Timms, A; Edwards, S; Bradbury, L; Brophy, S; Milicic, A; Rubin, L; Siminovitch, KA; Weeks, DE; Calin, A; Wordsworth, BP; Brown, MA 分享 收藏
Suggestive evidence for association of human chromosome 18q12-q21 and its orthologue on rat and mouse chromosome 18 with several autoimmune diseases Merriman, TR; Cordell, HJ; Eaves, IA; Danoy, PA; Coraddu, F; Barber, R; Cucca, F; Broadley, S; Sawcer, S; Comptson, A; Wordsworth, P; Shatford, J; Laval, S; Jirholt, J; Holmdahl, R; Theofilopoulos, AN; Kono, DH; Tuomilehto, J; Tuomilehto-Wolf, E; Buzzetti, R; Marrosu, MG; Undlien, DE; Ronningen, KS; Ionesco-Tirgoviste, C; Shield, JP; Pociot, F; Nerup, J; Jacob, CO; Polychronakos, C; Bain, SC; Todd, JA 分享 收藏
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Evidence for linkage of psychosis and cerebral asymmetry to the centromeric region of the X chromosome Laval, SH; Dann, JC; Butler, RJ; Loftus, J; Rue, J; Leask, SJ; Bass, N; Vita, A; Nanko, S; Shaw, S; Peterson, P; Shields, G; Smith, AB; Stewart, J; DeLisi, LE; Crow, TJ 分享 收藏
Linkage study of schizophrenia to markers within Xp11 near the MAOB gene 精神分裂症与MAOB基因附近Xp11内标记物的连锁研究 Dann, J; DeLisi, LE; Devoto, M; Laval, S; Nancarrow, DJ; Shields, G; Smith, A; Loftus, J; Peterson, P; Vita, A; Comazzi, M; Invernizzi, G; Levinson, DF; Wildenauer, D; Mowry, BJ; Collier, D; Powell, J; Crowe, RR; Andreasen, NC; Silverman, JM; Mohs, RC; Murray, RM; Walters, MK; Lennon, DP; Hayward, NK; Albus, M; Lerer, B; Maier, W; Crow, TJ 分享 收藏
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