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Charcot-Marie-Tooth Disease
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1. Hand function in Charcot Marie Tooth: test retest reliability of some measurements.
Match Strength: 19.581

OBJECTIVE: To evaluate the reliability of some measurements of hand function in people with Charcot Marie Tooth disease. DESIGN: Test retest study. SETTING: University, hospitals/clinics in northern Sweden. SUBJECTS: Twenty people with Charcot Marie Tooth disease. MAIN OUTCOME MEASURES: Measures of (1) dexterity; Box and Block Test and Nine-Hole Peg Test, (2) strength; Grippit instrument (grip and pinch), (3) tactile sensation; Shape Texture Identification Test. Statistics used: intraclass correlation (ICC 2.1), limits of agreement, coefficient of repeatability, coefficient of variation, and ... Read More »
» Published in Clin Rehabil. 2006 Oct;20(10):896-908.

2. Mivacurium-induced neuromuscular block in adult patients suffering from Charcot-Marie-Tooth disease.
Match Strength: 16.070

PURPOSE: The response to non-depolarizing neuromuscular blocking drugs is variable in patients with Charcot-Marie-Tooth (CMT) disease. We speculated that CMT involvement of the monitored muscle may be partially responsible for this inconsistency. We therefore investigated the response to a standard dose of mivacurium simultaneously assessed at adductor pollicis (AP) and orbicularis oculi (OO) muscles in five patients with CMT. CLINICAL FEATURES: Over a period of one year, five adult patients with CMT scheduled for orthopedic surgery were studied. The right arm and the right supercilliary arch ... Read More »
» Published in Can J Anaesth. 2006 Oct;53(10):984-8.

3. Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression.
Match Strength: 10.135

Onset of myelination in Schwann cells is governed by several transcription factors, including Krox20/Egr2, and mutations affecting Krox20 result in various human hereditary peripheral neuropathies, including congenital hypomyelinating neuropathy (CHN) and Charcot-Marie-Tooth disease (CMT). Similar molecular information is not available on the process of myelin maintenance. We have generated conditional Krox20 mutations in the mouse that allowed us to develop models for CHN and CMT. In the latter case, specific inactivation of Krox20 in adult Schwann cells results in severe demyelination, ... Read More »
» Published in J Neurosci. 2006 Sep 20;26(38):9771-9.

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