Showing 1 - 20 results of 51 for search '"Charcot-Marie-Tooth"', query time: 0.10s Refine Results
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    Charcot‐Marie‐Tooth disease in children by Ezgi Saylam, Praveen Kumar Ramani, Ruthwik Duvuru, Brett Haley, Aravindhan Veerapandiyan

    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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    Article
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    Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease by Sherif Ali Eltawansy, Andrea Bakos, John Checton

    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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    Article
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    Wellbeing measurement among adults with Charcot-Marie-Tooth disease by Payton D. Rule, Megan W. Wolk, Patrick L. Hill

    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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    Cochlear Implantation in Charcot-Marie-Tooth Disease: Case Report and Review of the Literature by C. Lane Anzalone, Sarah Nuhanovic, Amy P. Olund, Matthew L. Carlson

    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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    Article
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    Osseous Morphology Differences Between Demyelinating and Axonal Subtypes of Charcot Marie Tooth Disease by Melissa Requist, Andrew Peterson MS, Timothy Beals MD, Rich Lisonbee MS, Bopha Chrea MD, Cesar de Cesar Netto MD, PhD, Amy Lenz PhD

    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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    Article
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    Case Study on the Role of Neuromotor Re-Education Methods in the Treatment of Charcot Marie-Tooth Disease by C.E. Stoica, G.S. Lupu

    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 by Seyed Hossein Mirlohi, Sanaz Tajfirooz, Mitra Rouhi

    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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    Article
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    The Mystery of Meary’s: 3D Analysis of First Ray Plantarflexion Deformity in Charcot-Marie-Tooth Disease by Christian Blough MD, Max P. Michalski MD, Jaehwang Song MD, PhD, Glenn Pfeffer MD

    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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    Article
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    Charcot-Marie-Tooth Disease vs Idiopathic: A Comparison of Pes Cavovarus Using Known and Novel Measurements by Eli Schmidt BS, Nolan M. Schonhorst, Andrew Behrens BS, Grayson M. Talaski, Jason Wilken MPT, PhD, Donald D. Anderson PhD, Cesar de Cesar Netto MD, PhD, Bopha Chrea MD

    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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    Article
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    Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement by Georgios Koutsis, Georgia Karadima, Paraskewi Floroskoufi, Maria Raftopoulou, Marios Panas

    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 by Bopha Chrea MD, Lauren Crowe BS, Kailee Ward BS, Tiffany Grider MS, Mary Shepherd BS, PT, Donald D. Anderson PhD, Michael Shy MD, Jason Wilken MPT, PhD

    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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    Article
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    Genetically confirmed Charcot–Marie–Tooth disease type 2A manifesting with postural tremor: a case report by Salhadin Mohammed, Selam Kifelew, Fikru Tsehayneh, Abel Teklit Haile, Esrom Hagos Gebrehiwot

    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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    Article
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    IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta. by Marjo K Hytönen, Julius Rönkkö, Sruthi Hundi, Tarja S Jokinen, Emilia Suonto, Eeva Teräväinen, Jonas Donner, Rita La Rovere, Geert Bultynck, Emil Ylikallio, Henna Tyynismaa, Hannes Lohi

    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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    Article
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