2013 (v1)
Publication
No description
Uploaded on: April 14, 2023
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2013 (v1)Publication
No description
Uploaded on: April 14, 2023 -
2018 (v1)Publication
Background: Charcot-Marie-Tooth (CMT) is a slowly progressive disease characterized by muscular weakness and wasting with a length-dependent pattern. Mildly affected CMT subjects showed slight alteration of walking compared to healthy subjects (HS).Research question: To investigate the biomechanics of step negotiation, a task that requires...
Uploaded on: April 14, 2023 -
2019 (v1)Publication
Mutations of myelin protein zero gene (MPZ) are found in 5% of Charcot-Marie-Tooth patients. In 2004, Shy et al. identified two main phenotypes associated with them: an early-onset subtype with mainly demyelinating features and a late-onset subgroup with prominent axonal impairment. We evaluated whether novel MPZ mutations described in...
Uploaded on: April 14, 2023 -
2008 (v1)Publication
Pain is not considered a relevant symptom in Charcot-Marie-Tooth (CMT) patients and no studies have comprehensively assessed it. We performed a multidimensional assessment in 211 consecutive CMT patients to evaluate the clinical features, quality of life (QoL) and disability. For QoL we used the SF-36, which comprises one domain called "Bodily...
Uploaded on: March 31, 2023