Results 271 to 280 of about 9,361,467 (352)

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

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

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well‐Defined Cohort Including the Indigenous Population

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSP) are rare disorders sharing common features of leg spasticity with gait impairment. Simple and complex forms are recognized; over 50% of cases remain unsolved genetically. Little is known about the genetics of HSP among Indigenous Peoples. Objectives To describe clinical, radiological, and genetic
Ekhlas Assaedi, Setareh Ashtiani, Mehrdad A. Estiar, Ziv Gan‐Or, Erica D. McKenzie, Aakash Shetty, Guy Rouleau, Oksana Suchowersky   +7 more
wiley   +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

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

Bilateral Focused Ultrasound Thalamotomy for Essential Tremor: Clinical Outcomes Compared to Bilateral Deep Brain Stimulation and Probabilistic Lesion Mapping

Movement Disorders, EarlyView.
Abstract Background The efficacy and adverse events (AEs) of bilateral magnetic resonance‐guided focused ultrasound (MRgFUS) thalamotomies for essential tremor (ET) have not been compared to those of deep brain stimulation (DBS). Furthermore, it is uncertain whether second‐side thalamotomies can be positioned differently from the first without ...
Can Sarica, Kazuaki Yamamoto, Christian Iorio‐Morin, Jurgen Germann, Andrew Z. Yang, Brendan Santyr, Michael Colditz, Artur Vetkas, Anton Fomenko, Benjamin Davidson, Franziska Schmidt, Talyta Grippe, Nardin Samuel, Ajmal Zemmar, Oliver Flouty, Cletus Cheyuo, Ghazaleh Darmani, Robert Chen, Alexandre Boutet, Clemens Neudorfer, Mojgan Hodaie, Suneil K. Kalia, Renato P. Munhoz, Alfonso Fasano, Andres M. Lozano   +24 more
wiley   +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

Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology

Movement Disorders, EarlyView.
Abstract Background Therapeutic interventions in Friedreich's ataxia (FRDA) are progressing into clinical trials, and the need for robust and easily accessible biomarkers has arisen. Objective This study aimed to consolidate preliminary findings of changes in the levels of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), Tau, and ...
Christian Rummey, Gilbert Thomas‐Black, Hector Garcia‐Moreno, David R. Lynch, Rosella Abeti, Huseyin Arisoy, Amanda Heslegrave, Henrik Zetterberg, Paola Giunti, the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)   +9 more
wiley   +1 more source

Physical exercise halts further functional decline in an animal model for Charcot-Marie-Tooth disease 1X at an advanced disease stage. [PDF]

J Peripher Nerv Syst
Klein D, Yépez MG, Martini R.
europepmc   +1 more source

Characterization of a novel heterozygous variant in the histidyl-tRNA synthetase gene associated with Charcot-Marie-Tooth disease type 2W. [PDF]

IUBMB Life
Wilhelm SDP, Moresco AA, Rivero AD, Siu VM, Heinemann IU.   +4 more
europepmc   +1 more source