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Charcot‐Marie‐Tooth disease in children
Published 2024-12-01“…Abstract Charcot‐Marie‐Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. …”
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Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease
Published 2015-01-01“…Our case had a history of Charcot-Marie-Tooth disease. There is a high incidence of arrhythmia and embolic complications. …”
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Wellbeing measurement among adults with Charcot-Marie-Tooth disease
Published 2024-01-01“…Background and aims: Wellbeing research among individuals with Charcot-Marie-Tooth disease (CMT) is limited. The goal of the current study is to characterize the challenges experienced by adults with CMT that researchers may miss by utilizing typical strategies to capture mental health and wellbeing. …”
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Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination.
Published 2011-07-01Subjects: “…enfermedad de charcot-marie-tooth…”
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Hip Dysplasia in Patients with Charcot-Marie-Tooth Disease: Unraveling an Underrecognized Condition
Published 2024-08-01Subjects: “…Charcot-Marie-Tooth…”
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Cochlear Implantation in Charcot-Marie-Tooth Disease: Case Report and Review of the Literature
Published 2018-01-01“…Introduction. Charcot-Marie-Tooth (CMT) disease is a peripheral hereditary neuropathy associated with motor and sensory impairment and can result in profound sensorineural hearing loss (SNHL). …”
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Osseous Morphology Differences Between Demyelinating and Axonal Subtypes of Charcot Marie Tooth Disease
Published 2024-12-01“…Category: Midfoot/Forefoot; Basic Sciences/Biologics Introduction/Purpose: Charcot Marie Tooth disease (CMT) is a progressive genetic neurological condition that, despite heterogeneity in genotype and expression, presents with characteristic cavovarus foot deformity consisting of a varus hindfoot with a high arch and valgus forefoot. …”
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Case Study on the Role of Neuromotor Re-Education Methods in the Treatment of Charcot Marie-Tooth Disease
Published 2024-07-01“…The paper is a case study of a subject diagnosed with Charcot Marie-Tooth disease. The physical therapy intervention aimed to apply elements of neuromotor re-education methods over a period of nine months. …”
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Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis
Published 2025-01-01“…Charcot-Marie-Tooth is an inherited disorder involving multiple genes, causing progressive nerve damage affecting sensation and movement. …”
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The Mystery of Meary’s: 3D Analysis of First Ray Plantarflexion Deformity in Charcot-Marie-Tooth Disease
Published 2024-12-01“…Category: Midfoot/Forefoot; Other Introduction/Purpose: The typical cavovarus deformity seen in patients with Charcot-Marie-Tooth involves plantarflexion of the first ray. …”
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Charcot-Marie-Tooth Disease vs Idiopathic: A Comparison of Pes Cavovarus Using Known and Novel Measurements
Published 2024-12-01“…In the setting of Charcot-Marie-Tooth disease this often presents in more severe deformity due to muscular imbalance, however, pes cavus may also present idiopathically. …”
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Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement
Published 2015-01-01“…We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. …”
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Timed Up and Go, Fall Risk and Foot Deformities in Charcot-Marie-Tooth Patients: A Retrospective Review
Published 2024-12-01“…Category: Other; Midfoot/Forefoot Introduction/Purpose: Charcot-Marie-Tooth (CMT) disease is an inherited peripheral neuropathy known to cause progressive sensory and motor impairment. …”
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3D‐printed custom ankle braces for people with Charcot‐Marie‐Tooth disease: A pilot study
Published 2024-12-01Subjects: Get full text
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Genetically confirmed Charcot–Marie–Tooth disease type 2A manifesting with postural tremor: a case report
Published 2024-11-01“…Postural tremor as a manifestation of Charcot–Marie–Tooth is seldom present, except in a variant of Charcot–Marie–Tooth subtype 1 (Roussy–Levy syndrome), and its presence often results in a diagnostic dilemma. …”
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IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.
Published 2025-01-01“…Variants in the ITPR3 gene, which encodes IP3R3, have recently been found to cause demyelinating sensorimotor Charcot-Marie-Tooth neuropathy type 1J (CMT1J). In addition to peripheral neuropathy, immunodeficiency and tooth abnormalities are occasionally present. …”
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Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis
Published 2025-01-01Subjects: Get full text
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21548. ENFERMEDAD DE CHARCOT-MARIE-TOOTH DE TIPO INTERMEDIO: PERFILES CLÍNICO-GENÉTICOS MÁS ALLÁ DEL GJB1
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Evaluating plasma biomarkers NfL, GFAP, GDF15, and FGF21 as indicators of disease severity in Charcot–Marie Tooth patients
Published 2025-01-01“…BackgroundCharcot–Marie–Tooth disease (CMT), a slowly advancing hereditary nerve disorder, presents a significant challenge in the medical field. …”
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Functional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease
Published 2024-12-01“…Abstract The Charcot-Marie-Tooth-1E (CMT1E) disease is typically described as a peripheral neuropathy in humans, causing decreased nerve conduction, spastic paralysis, and tremor. …”
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