2015 (v1)
Publication
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Uploaded on: April 14, 2023
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2024 (v1)Publication
Sleep-disordered breathing has been reported in Charcot-Marie-Tooth disease (CMT) type 1A in association with diaphragmatic weakness and sleep apnea syndrome, mainly of the obstructive type (OSA). Improvement has been observed not only in sleep quality but also in neuropathy symptoms in CMT1A patients with OSA following the initiation of...
Uploaded on: February 25, 2024 -
2017 (v1)Publication
Detection of worsening in the slowly progressive Charcot–Marie–Tooth disease (CMT) is difficult. As previous clinical scales showed low responsiveness, novel outcome measures are under study, including innovative approaches such as quantitative muscle MRI and instrumented movement analysis. Since gait analysis proved able to reliably quantify...
Uploaded on: April 14, 2023 -
2021 (v1)Publication
Background: Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient's functional autonomy negatively affects the patient's quality of life and requires increasing involvement of...
Uploaded on: April 14, 2023 -
2020 (v1)Publication
OBJECTIVE: To collect information on frequency of pregnancy and delivery complications in Charcot-Marie-Tooth (CMT) and on CMT course during pregnancy.METHODS: Through an ad hoc online questionnaire, we investigated pregnancy and neuropathy course in CMT women adhering to the Italian CMT Registry. Data were compared to controls (recruited among...
Uploaded on: April 14, 2023 -
2023 (v1)Publication
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Uploaded on: February 23, 2024 -
2023 (v1)Publication
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Uploaded on: July 3, 2024 -
2019 (v1)Publication
BACKGROUND: The outcome measures (OMs) in clinical trials for Charcot-Marie-Tooth disease (CMT) still represent an issue. A recent study highlighted that three additional clinical OMs, the 10-Meter Walk Test (10MWT), the 9-Hole Peg Test, and foot dorsal flexion dynamometry, further improve discrimination between severely and mildly affected...
Uploaded on: April 14, 2023 -
2023 (v1)Publication
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Uploaded on: July 3, 2024 -
2023 (v1)Publication
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Uploaded on: July 3, 2024 -
2022 (v1)Publication
: Axonal polyneuropathy is the main feature of hereditary transthyretin amyloidosis (ATTRv). Nerve morphological abnormalities have been reported, but longitudinal changes have never been assessed. We performed a prospective widespread nerve ultrasound evaluation and nerve cross-sectional area (CSA) was compared with baseline data in both ATTRv...
Uploaded on: April 14, 2023 -
2015 (v1)Publication
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Uploaded on: April 14, 2023 -
2017 (v1)Publication
Background Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for the development of new therapies. Hence, there is a strong need for...
Uploaded on: April 14, 2023