Results 141 to 150 of about 29,182 (218)

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

Alterações audiológicas na doença de Charcot-Marie-Tooth Audiological findings in the Charcot-Marie-Tooth disease

Brazilian Journal of Otorhinolaryngology, 2011
Erika Fukushima, Patricia Maria Sens, Ernani Lambert   +2 more
doaj   +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

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

Mitofusin MFN2 acts as a molecular sensor preventing protein aggregation and mitophagy, with a protective effect against apoptosis in Charcot-Marie-Tooth type 2A disease. [PDF]

Autophagy Rep
Joaquim M, Dohrn MF, Chevrollier A, Escobar-Henriques M.   +3 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

Metabolic signatures in sciatic nerve of PMP22 transgenic rats provide insights into the pathogenesis of charcot-marie-tooth disease type 1 A. [PDF]

Sci Rep
Muller A, Grove K, Christen I, Kreider J, Santos C, Hoque S, Bidinosti M, Hatakeyama S, Zhang J.   +8 more
europepmc   +1 more source

Metabolomics insights into Charcot-Marie-Tooth disease: toward biomarker discovery. [PDF]

Front Neurol
Setlere S, Schiemer T, Vaska A, Gailite L, Rots D, Kenina V, Klavins K.   +6 more
europepmc   +1 more source