Results 171 to 180 of about 49,167 (262)

Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes. [PDF]

J Peripher Nerv Syst
Shumeri E, Mandorah E, Martini N, Boyer A, Halbert C, Puma A, Chaussenot A, Delmont E, N'guyen K, Attarian S, Bonello-Palot N.   +10 more
europepmc   +1 more source

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Journal of Neurology Neurosurgery & Psychiatry, 2012
S. Murphy, M. Laurá, K. Fawcett, A. Pandraud, Yo-Tsen Liu, G. Davidson, A. Rossor, J. Polke, Victoria H. Castleman, H. Manji, M. Lunn, K. Bull, G. Ramdharry, M. Davis, J. Blake, H. Houlden, M. Reilly   +16 more
semanticscholar   +1 more source

INF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights. [PDF]

Ann Clin Transl Neurol
Yano 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 more
europepmc   +1 more source

Guillain-Barré Syndrome With Asymmetrical Weakness in a Patient With Charcot-Marie-Tooth Disease Type 1A. [PDF]

Cureus
Ahmed K, Elachola M, Alsararatee H, Pugh N.   +3 more
europepmc   +1 more source

Muscle-Specific DNM2 Overexpression Improves Charcot-Marie-Tooth Disease In Vivo and Reveals a Narrow Therapeutic Window in Skeletal Muscle. [PDF]

Int J Mol Sci
Goret M, Piccolo G, Laporte J.
europepmc   +1 more source

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD. [PDF]

Brain
Cortese 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 more
europepmc   +1 more source

A Case Report and Literature Review of Charcot-Marie-Tooth Disease Type 2F in a Family. [PDF]

Degener Neurol Neuromuscul Dis
Lei Y, Cheng L, Zhao W, Che P, Dong X, Ma L.   +5 more
europepmc   +1 more source

Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth disease. [PDF]

NAR Mol Med
Mahmood M, Wilhelm SDP, Mendes MI, Smith DE, Kenana R, Hoffman K, Moresco AA, Siu VM, Heinemann IU.   +8 more
europepmc   +1 more source

Characterising PMP22-Proximal Partners in a Schwann Cell Model of Charcot-Marie-Tooth Disease Type1A. [PDF]

Biology (Basel)
Holt I, Emery N, Gates MA, Brown SJ, Shirran SL, Fuller HR.   +5 more
europepmc   +1 more source