Results 171 to 180 of about 30,474 (227)

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

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

An observational study of asymmetry in CMT1A [PDF]

, 2015
Carr, AS, Laura, M, Pelayo-Negro, AL, Reilly, MM, Skorupinska, M   +4 more
core  

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

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease [PDF]

, 2013

core   +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

Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2

, 2019
Jiake Xu, Yong Fu, Weichun Xia, Jing He, Yan Zou, Wencong Ruan, Qi Lou, Ying Li, Jianwei Pan, Haifeng Li, Wei Chen   +10 more
openalex   +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

Functional study of a novel Charcot-Marie-Tooth disease-related gene: Promoting peripheral nerve regeneration via adeno-associated virus-mediated gene delivery

, 2019
Deepak Prasad Gupta, Sung Hee Park, Kyoungho Suk, Gyun Jee Song   +3 more
openalex   +1 more source