Challenges in treating Charcot-Marie-Tooth disease and related neuropathies: current management and future perspectives
C Pisciotta, P Saveri, D Pareyson - Brain sciences, 2021 - mdpi.com
There is still no effective drug treatment available for Charcot-Marie-Tooth neuropathies
(CMT). Current management relies on rehabilitation therapy, surgery for skeletal deformities …
(CMT). Current management relies on rehabilitation therapy, surgery for skeletal deformities …
Hereditary neuropathy
C Pisciotta, ME Shy - Handbook of clinical neurology, 2023 - Elsevier
The hereditary neuropathies, collectively referred as Charcot–Marie–Tooth disease (CMT)
and related disorders, are heterogeneous genetic peripheral nerve disorders that …
and related disorders, are heterogeneous genetic peripheral nerve disorders that …
Triggers and alleviating factors for fatigue in Parkinson's disease
Background Fatigue is common in Parkinson's Disease, but few effective treatments are
available for it. Exploring triggers and alleviating factors, including effects of exercise, could …
available for it. Exploring triggers and alleviating factors, including effects of exercise, could …
Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease
M Bellofatto, A Bertini, I Tramacere… - European Journal of …, 2023 - Wiley Online Library
Background and purpose Fatigue, a disabling symptom in many neuromuscular disorders,
has been reported also in Charcot–Marie–Tooth disease (CMT). The presence of fatigue …
has been reported also in Charcot–Marie–Tooth disease (CMT). The presence of fatigue …
Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment
Objectives Inherited defects of the neuromuscular junction (NMJ) comprise an increasingly
diverse range of diseases. Several recently identified genes highlight the overlap between …
diverse range of diseases. Several recently identified genes highlight the overlap between …
Pharmacological doses of thiamine benefit patients with the charcot–marie–tooth neuropathy by changing thiamine diphosphate levels and affecting regulation of …
AV Artiukhov, ON Solovjeva, NV Balashova… - Biochemistry …, 2024 - Springer
Abstract Charcot–Marie–Tooth (CMT) neuropathy is a polygenic disorder of peripheral
nerves with no effective cure. Thiamine (vitamin B1) is a neurotropic compound that …
nerves with no effective cure. Thiamine (vitamin B1) is a neurotropic compound that …
Exploratory study of physical activity in persons with Charcot-Marie-Tooth disease
E Anens, M Emtner, K Hellström - Archives of Physical Medicine and …, 2015 - Elsevier
Objectives To explore and describe the perceived facilitators and barriers to physical activity,
and to examine the physical activity correlates in people with Charcot-Marie-Tooth (CMT) …
and to examine the physical activity correlates in people with Charcot-Marie-Tooth (CMT) …
Exploring quality of life in people with slowly-progressive neuromuscular disease
Purpose: A qualitative work is conducted to enable later the construction of a health-related
quality of life (HRQL) questionnaire for patients with slowly-progressive neuromuscular …
quality of life (HRQL) questionnaire for patients with slowly-progressive neuromuscular …
Therapeutic options in Charcot–Marie–Tooth diseases
S Mathis, L Magy, JM Vallat - Expert review of neurotherapeutics, 2015 - Taylor & Francis
Charcot–Marie–Tooth (CMT) diseases represent a heterogeneous genetic disorder (more
than 80 genes are implicated in these inherited neuropathies), but sharing a similar …
than 80 genes are implicated in these inherited neuropathies), but sharing a similar …
Review of general and head and neck/oral and maxillofacial features of Charcot-Marie-Tooth disease and dental management considerations
JK Brooks, NC Porter, KA Bisordi, CE Miclat… - Oral Surgery, Oral …, 2022 - Elsevier
Charcot-Marie-Tooth disease (CMTD) is an uncommon progressive neuromuscular disorder
of the peripheral nervous system and primarily leads to distal extremity weakness and …
of the peripheral nervous system and primarily leads to distal extremity weakness and …