Results 171 to 180 of about 30,318 (229)
Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K
, 2019 Julien Cassereau, Arnaud Chevrollier, Philippe Codron, Cyril Goizet, Naïg Guéguen, Christophe Verny, Pascal Reynier, Dominique Bonneau, Guy Lenaers, Vincent Procaccio +9 moreopenalex +2 more sourcesDigenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes. [PDF]
J Peripher Nerv SystShumeri E, Mandorah E, Martini N, Boyer A, Halbert C, Puma A, Chaussenot A, Delmont E, N'guyen K, Attarian S, Bonello-Palot N. +10 moreeuropepmc +1 more sourceINF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights. [PDF]
Ann Clin Transl NeurolYano C, Ando M, Higuchi Y, Yuan JH, Yoshimura A, Hobara T, Nagatomo R, Kojima F, Hiramatsu Y, Nozuma S, Nakamura T, Sakiyama Y, Matsuoka C, Yamashita T, Kimura T, Miyazaki A, Kinjo C, Yokochi K, Yamanaka N, Matsuda N, Suichi T, Hanaoka Y, Kojima H, Todo K, Ishiura H, Mitsui J, Tsuji S, Takashima H. +27 moreeuropepmc +1 more sourceGenotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD. [PDF]
BrainCortese A, Dohrn MF, Curro R, Negri S, Lassuthova P, Pisciotta C, Tozza S, Al-Ajmi A, Feng C, Tomaselli PJ, Fernandez-Eulate G, Haddad S, Laurà M, Rossor AM, Vegezzi E, Facchini S, Sleigh JN, Rebelo A, Beijer D, Raposo J, Saporta M, Lauerova B, Pernice HF, Achenbach P, Schöne U, Alon T, Deschauer M, Cordts I, Obermaier CD, Winter N, Creigh PD, Sowden JE, Rehbein T, Magri S, Bertini A, Saveri P, Ripellino P, Huang J, Nadaj-Pakleza A, Ross A, Holt JKL, Brennan KM, Sukenik-Halevy R, Bizaoui V, Parman Y, Battaloglu E, Cakar A, Alrohaif H, Hammans S, Kumar KR, Kennerson ML, Kayserili H, Amado DA, Hahn K, Valentino P, Cavalcanti F, Gaetano C, Taroni F, Braathen GJ, Houlden H, Stojkovic T, Peric S, Bolino A, Previtali SC, Yi-Chung L, Başak AN, Hamed SA, Rojas-Garcia R, Claeys KG, Marques W, Sevilla T, Schlotter-Weigel B, Manganelli F, Zhang R, Herrmann DN, Scherer SS, Seeman P, Pareyson D, Reilly MM, Shy ME, Züchner S. +80 moreeuropepmc +1 more sourceIP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta
Marjo K. Hytönen, Julius Rönkkö, Sruthi Hundi, Tarja S. Jokinen, Emilia Suonto, Eeva Teräväinen, Jonas Donner, Rita La Rovere, Geert Bultynck, Emil Ylikallio, Henna Tyynismaa, Hannes Lohi +11 moreopenalex +2 more sources
