Results 231 to 240 of about 47,101 (300)

A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3. [PDF]

Front Neurol
Liu H, Dong J, Xie Z, Yu L.
europepmc   +1 more source

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease. [PDF]

Brain
Record CJ, Pipis M, Skorupinska M, Blake J, Poh R, Polke JM, Eggleton K, Nanji T, Zuchner S, Cortese A, Houlden H, Rossor AM, Laura M, Reilly MM.   +13 more
europepmc   +1 more source

Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant. [PDF]

BMC Nephrol
Ding Y, Wu Z, Tang X, Li X.
europepmc   +1 more source

Evaluation of the Role of Tanshinone I in an In Vitro System of Charcot-Marie-Tooth Disease Type 2N. [PDF]

Int J Mol Sci
Zhang J, Meng X, Qin Q, Liang Y, Yang G, Li S, Li X, Zhou JC, Sun L.   +8 more
europepmc   +1 more source

ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease. [PDF]

Eur J Neurol
Cabello-Murgui J, Jiménez-Jiménez J, Vílchez JJ, Azorín I, Martí-Martínez P, Millet E, Lupo V, Sevilla T, Sivera R.   +8 more
europepmc   +1 more source

Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth disease. [PDF]

Nucleic Acids Res
Wilhelm SDP, Kakadia JH, Beharry A, Kenana R, Hoffman KS, O'Donoghue P, Heinemann IU.   +6 more
europepmc   +1 more source

Middle ear cholesteatoma and facial nerve hypertrophy mimicking schwannoma in Charcot-Marie-Tooth disease: A case report. [PDF]

Medicine (Baltimore)
Jang M, Hong C, Choi JW, Kim CH.
europepmc   +1 more source

Hip Dysplasia in Patients with Charcot-Marie-Tooth Disease: Unraveling an Underrecognized Condition. [PDF]

J Pediatr Soc North Am
Chaclas N, Hall CE, Yum S, Seeley M, Sankar WN.   +4 more
europepmc   +1 more source

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease. [PDF]

Front Genet
Shchagina O, Murtazina A, Chausova P, Orlova M, Dadali E, Kurbatov S, Kutsev S, Polyakov A.   +7 more
europepmc   +1 more source

Electrical storm in a patient with Charcot-Marie-Tooth disease treated with radiofrequency ablation and subsequent serious complication of implantable cardioverter defibrillator implantation: a case report. [PDF]

Eur Heart J Case Rep
Vrtal J, Plášek J, Václavík J, Šipula D, Dodulík J.   +4 more
europepmc   +1 more source