Not logged in Share Save
Share Save
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 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 Share Save
The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN) Schierbaum, Luca; Quiroz, Vicente; Yang, Kathryn; Rong, Joshua; Battaglia, Nicole; Zubair, Umar; Christie, Michelle; Davis, Marie; Calame, Daniel; Danzi, Matt C.; Finkel, Richard S.; Burns, Joshua; Gilbert, Donald L.; Mingbunjerdsuk, Dararat; Pruitt, Greg; Pruitt, Norma; Cobb, John; Sadjadi, Reza; Cashman, Christopher R.; Blackstone, Craig; Fink, John K.; Shy, Michael E.; Zuchner, Stephan; Ebrahimi-Fakhari, Darius Share Save
Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B Touvier, Thierry; Veneri, Francesca A.; Claessens, Anke; Ferri, Cinzia; Mastrangelo, Rosa; Sorgiati, Noemie; Bianchi, Francesca; Valenzano, Serena; Del Carro, Ubaldo; Rivellini, Cristina; Duong, Phu; Shy, Michael E.; Kelly, Jeffery W.; Svaren, John; Wiseman, R. Luke; D'Antonio, Maurizio Share Save
Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J Sadjadi, Reza; Picher-Martel, Vincent; Morrow, Jasper M.; Thedens, Daniel; Dicamillo, Paul A.; Mccray, Brett A.; Pareyson, Davide; Herrmann, David N.; Reilly, Mary M.; Li, Jun; Castro, Diana; Shy, Michael E. Share Save
Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants Berth, Sarah H.; Vo, Linh; Kwon, Do Hoon; Grider, Tiffany; Damayanti, Yasmine S.; Kosmanopoulos, Gage; Fox, Andrew; Lau, Alexander R.; Carr, Patrice; Donohue, Jack K.; Hoke, Maya; Thomas, Simone; Karam, Chafic; Fay, Alex J.; Meltzer, Ethan; Crawford, Thomas O.; Gaudet, Rachelle; Shy, Michael E.; Hellmich, Ute A.; Lee, Seok-Yong; Sumner, Charlotte J.; Mccray, Brett A. Share Save
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity Beijer, Danique; Dohrn, Maike F.; Rebelo, Adriana; Danzi, Matt C.; Grosz, Bianca Rose; Ellis, Melina; Kumar, Kishore R.; Vucic, Steve; Vais, Horia; Weissenrieder, Jillian S.; Lunko, Olesia; Paudel, Usha; Simpson, Leah C.; Camarena, Vladimir; Raposo, Jacquelyn; Saporta, Mario; Arcia, Yeisha; Xu, Isaac; Feely, Shawna; Record, Christopher J.; Blake, Julian; Reilly, Mary M.; Scherer, Steven S.; Kennerson, Marina; Lee, Yi-Chung; Foskett, J. Kevin; Shy, Michael E.; Inherited Neuropathy Consortium, Stephan; Zuchner, Stephan Share Save
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations 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. Share Save
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A Doherty, Carolynne M.; Howard, Paige; O'Donnell, Luke F.; Zuccarino, Riccardo; Wastling, Stephen; Milev, Evelin; Banks, Tina; Shah, Sachit; Zafeiropoulos, Nick; Stephens, Katherine J.; Sarkozy, Anna; Grider, Tiffany; Feely, Shawna M. E.; Manzur, Adnan; Shy, Rosemary R.; Skorupinska, Mariola; Pipis, Menelaos; Nicolaisen, Emma; Mcdowell, Amy; Dilek, Nuran; Rossor, Alexander M.; Laura, Matilde; Clark, Christopher; Muntoni, Francesco; Thedens, Daniel; Thornton, John; Morrow, Jasper M.; Shy, Michael E.; Reilly, Mary M. Share Save
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 Share Save
Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure Mandarakas, Melissa R.; Eichinger, Katy J.; Bray, Paula; Cornett, Kayla M. D.; Shy, Michael E.; Reilly, Mary M.; Ramdharry, Gita M.; Scherer, Steven S.; Pareyson, Davide; Estilow, Timothy; McKay, Marnee J.; Herrmann, David N.; Burns, Joshua Share Save
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A Doherty, Carolynne M.; Morrow, Jasper M.; Zuccarino, Riccardo; Howard, Paige; Wastling, Stephen; Pipis, Menelaos; Zafeiropoulos, Nick; Stephens, Katherine J.; Grider, Tiffany; Feely, Shawna M. E.; Nopoulous, Peggy; Skorupinska, Mariola; Milev, Evelin; Nicolaisen, Emma; Dudzeic, Magdalena; Mcdowell, Amy; Dilek, Nuran; Muntoni, Francesco; Rossor, Alexander M.; Shah, Sachit; Laura, Matilde; Yousry, Tarek A.; Thedens, Daniel; Thornton, John; Shy, Michael E.; Reilly, Mary M. Share Save
Share Save
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 Share Save
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease 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. Share Save
Share Save
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants 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. Share Save
Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency Zhu, Yi; Lobato, Amanda G.; Rebelo, Adriana P.; Canic, Tijana; Ortiz-Vega, Natalie; Tao, Xianzun; Syed, Sheyum; Yanick, Christopher; Saporta, Mario; Shy, Michael; Perfetti, Riccardo; Shendelman, Shoshana; Zuechner, Stephan; Zhai, R. Grace Share Save
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Not logged in.png){kind=icon}