未登录 Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱 Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan 分享 收藏
Comparison of intraepidermal nerve fiber density and confocal corneal microscopy for neuropathy Reynolds, Evan L.; Koenig, Fallon; Watanabe, Maya; Kwiatek, Alyssa; Elafros, Melissa A.; Stino, Amro; Henderson, Don; Herrmann, David N.; Feldman, Eva L.; Callaghan, Brian C. 分享 收藏
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations TRPV4神经肌肉疾病注册表突出了球部，骨骼和近端肢体表现 Kosmanopoulos, Gage P.; Donohue, Jack K.; Hoke, Maya; Thomas, Simone; Peyton, Margo A.; Vo, Linh; Crawford, Thomas O.; Sadjadi, Reza; Herrmann, David N.; Yum, Sabrina W.; Reilly, Mary M.; Scherer, Steven S.; Finkel, Richard S.; Lewis, Richard A.; Pareyson, Davide; Pisciotta, Chiara; Walk, David; Shy, Michael E.; Sumner, Charlotte J.; Mccray, Brett A. 分享 收藏
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A Xu, Isaac R. L.; Danzi, Matt C.; Ruiz, Ariel; Raposo, Jacquelyn; De Jesus, Yeisha Arcia; Reilly, Mary M.; Cortese, Andrea; Shy, Michael E.; Scherer, Steven S.; Herrmann, David N.; Fridman, Vera; Baets, Jonathan; Saporta, Mario; Seyedsadjadi, Reza; Stojkovic, Tanya; Claeys, Kristl G.; Patel, Pooja; Feely, Shawna; Rebelo, Adriana P.; Dohrn, Maike F.; Zuchner, Stephan 分享 收藏
A randomized, double-blind, placebo-controlled study of histone deacetylase type 6 inhibition for the treatment of painful diabetic peripheral neuropathy Michelson, David; Chin, William W.; Dworkin, Robert H.; Freeman, Roy; Herrmann, David N.; Mazitschek, Ralph; Pop-Busui, Rodica; Shaibani, Aziz; Vornov, James; Jones, Melissa; Jarpe, Matthew; Hader, Brittany; Viera, Theresa; Hylan, Michelle; Kachmar, Tim; Jones, Simon 分享 收藏
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation O'Donnell, Luke F.; Pipis, Menelaos; Thornton, John S.; Kanber, Baris; Wastling, Stephen; McDowell, Amy; Zafeiropoulos, Nick; Laura, Matilde; Skorupinska, Mariola; Record, Christopher J.; Doherty, Carolynne M.; Herrmann, David N.; Zetterberg, Henrik; Heslegrave, Amanda J.; Laban, Rhiannon; Rossor, Alexander M.; Morrow, Jasper M.; Reilly, Mary M. 分享 收藏
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease Charcot-marie-tooth病儿童体重指数与疾病进展的关系 Donlevy, Gabrielle A.; Cornett, Kayla M. D.; Garnett, Sarah P.; Shy, Rosemary; Estilow, Timothy; Yum, Sabrina W.; Anderson, Kimberly; Pareyson, Davide; Moroni, Isabella; Muntoni, Francesco; Reilly, Mary M.; Finkel, Richard S.; Herrmann, David N.; Eichinger, Katy J.; Shy, Michael E.; Burns, Joshua; Menezes, Manoj P. 分享 收藏
Disease-specific wearable sensor algorithms for profiling activity, gait, and balance in individuals with Charcot-Marie-Tooth disease type 1A Dinesh, K.; White, N.; Baker, L.; Sowden, J. E.; Behrens-Spraggins, S.; Wood, E.; Charles, J.; Herrmann, D. N.; Sharma, G.; Eichinger, K. 分享 收藏
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants 由于GJB1变异引起的charcot-marie-tooth病CMTX1的遗传分析和自然史 Record, Christopher J.; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M.; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna M. E.; Lloyd, Thomas E.; Horvath, Rita; Sadjadi, Reza; Herrmann, David N.; Li, Jun; Walk, David; Yum, Sabrina W.; Lewis, Richard A.; Day, John; Burns, Joshua; Finkel, Richard S.; Saporta, Mario A.; Ramchandren, Sindhu; Weiss, Michael D.; Acsadi, Gyula; Fridman, Vera; Muntoni, Francesco; Poh, Roy; Polke, James M.; Zuchner, Stephan; Shy, Michael E.; Scherer, Steven S.; Reilly, Mary M. 分享 收藏
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Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history 由双等位基因SH3TC2变体引起的神经病: 基因型-表型相关性和自然史 Rehbein, Tyler; Wu, Tong Tong; Treidler, Simona; Pareyson, Davide; Lewis, Richard; Yum, Sabrina W.; McCray, Brett A.; Ramchandren, Sindhu; Burns, Joshua; Li, Jun; Finkel, Richard S.; Scherer, Steven S.; Zuchner, Stephan; Shy, Michael E.; Reilly, Mary M.; Herrmann, David N. 分享 收藏
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Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study Fridman, Vera; Sillau, Stefan; Bockhorst, Jacob; Smith, Kaitlin; Moroni, Isabella; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Guiseppe; Laura, Matilde; Muntoni, Francesco; Bacon, Chelsea; Feely, Shawna; Grider, Tiffany; Gutmann, Laurie; Shy, Rosemary; Wilcox, Janel; Herrmann, David N.; Li, Jun; Ramchandren, Sindhu; Sumner, Charlotte J.; Lloyd, Thomas E.; Day, John; Siskind, Carly E.; Yum, Sabrina W.; Sadjadi, Reza; Finkel, Richard S.; Scherer, Steven S.; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E. 分享 收藏
Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease Thomas, Florian P.; Brannagan, Thomas H., III; Butterfield, Russell J.; Desai, Urvi; Habib, Ali A.; Herrmann, David N.; Eichinger, Katy J.; Johnson, Nicholas E.; Karam, Chafic; Pestronk, Alan; Quinn, Colin; Shy, Michael E.; Statland, Jeffrey M.; Subramony, Sub H.; Walk, David; Stevens-Favorite, Katherine; Miller, Barry; Leneus, Ashley; Fowler, Marcie; van de Rijn, Marc; Attie, Kenneth M. 分享 收藏
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Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease Donlevy, Gabrielle A.; Garnett, Sarah P.; Cornett, Kayla M. D.; McKay, Marnee J.; Baldwin, Jennifer N.; Shy, Rosemary R.; Yum, Sabrina W.; Estilow, Timothy; Moroni, Isabella; Foscan, Maria; Pagliano, Emanuela; Pareyson, Davide; Laura, Matilde; Bhandari, Trupti; Muntoni, Francesco; Reilly, Mary M.; Finkel, Richard S.; Sowden, Janet E.; Eichinger, Katy J.; Herrmann, David N.; Shy, Michael E.; Burns, Joshua; Menezes, Manoj P. 分享 收藏
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study 2A型charcot-marie-tooth病的自然史: 一项大型国际多中心研究 Pipis, Menelaos; Feely, Shawna M. E.; Polke, James M.; Skorupinska, Mariola; Perez, Laura; Shy, Rosemary R.; Laura, Matilde; Morrow, Jasper M.; Moroni, Isabella; Pisciotta, Chiara; Taroni, Franco; Vujovic, Dragan; Lloyd, Thomas E.; Acsadi, Gyula; Yum, Sabrina W.; Lewis, Richard A.; Finkel, Richard S.; Herrmann, David N.; Day, John W.; Li, Jun; Saporta, Mario; Sadjadi, Reza; Walk, David; Burns, Joshua; Muntoni, Francesco; Ramchandren, Sindhu; Horvath, Rita; Johnson, Nicholas E.; Zuchner, Stephan; Pareyson, Davide; Scherer, Steven S.; Rossor, Alexander M.; Shy, Michael E.; Reilly, Mary M. 分享 收藏
The genetic landscape of axonal neuropathies in the middle-aged and elderly Focus on MME Senderek, Jan; Lassuthova, Petra; Kabzinska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J.; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Draeger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N.; Horvath, Rita; Hoyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N.; Kurth, Ingo; Laing, Nigel G.; Lamont, Phillipa J.; Loescher, Wolfgang N.; Ludolph, Albert; Marques, Wilson, Jr.; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schoeneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schuele, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M.; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Zuechner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochanski, Andrzej; Auer-Grumbach, Michaela 分享 收藏
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