نتایج جستجو برای: charcot marie tooth disease

تعداد نتایج: 1566822  

2018
Veronick Benoy Lawrence Van Helleputte Robert Prior Constantin d’Ydewalle Wanda Haeck Natasja Geens Wendy Scheveneels Begga Schevenels M Zameel Cader Kevin Talbot Alan P Kozikowski Pieter Vanden Berghe Philip Van Damme Wim Robberecht Ludo Van Den Bosch

Peripheral nerve axons require a well-organized axonal microtubule network for efficient transport to ensure the constant crosstalk between soma and synapse. Mutations in more than 80 different genes cause Charcot-Marie-Tooth disease, which is the most common inherited disorder affecting peripheral nerves. This genetic heterogeneity has hampered the development of therapeutics for Charcot-Marie...

Journal: :genetics in the 3rd millennium 0
نادر لطفعلی زاده  nader lotfalizadeh allameh amini genetics counceling center of social welfare, 17 shahrivar st, tabriz, iranتبریز، خیابان هفده شهریور جدید، مرکز مشاوره علامه امینی بهزیستی معصومه جنت دوست masoumeh janat doust فرحناز ریحانی فر farahnaz reyhanifar نوشین سرخکوه آذری noushin sorkhkoh azari مجید رضائی بصیری majid rezai-basiri شیوا ثقفی shiva saghafi صدیقه نوبخت

diseases of the motor unit are common in children. these diseases are mostly genetically determined. cmt represents a clinically heterogeneous group of disorders caused by aberration of the intimate relationship between the schwann cell sheath and the neural axon, ultimately resulting in axonal death and muscular dennervation. a simple clinical classification of cmt (demyelinating versus axonal...

2014
Rune Østern Øivind Nilssen Svein Ivar Mellgren

Journal: :genetics in the 3rd millennium 0
آویسا عباسی avisa abbasi department of genetics, faculty of basic sciences, tarbiat modares university, tehran, iran مجید صادقی زاده majis sadeghizadeh مهرداد به منش mehrdad behmanesh امید آریانی omid ariani مسعود هوشمند masoud houshmand

charcot-marie-tooth disease (cmt) is the most common form of inherited peripheral neuropathy. cmt is genetically and clinically heterogenous group of hereditary motor and sensory neuropathies characterized by areflexia, distal sensory loss and progressive weakness of the distal limb muscles. the x-linked cmt (cmtx) is the second most frequent form of charcot-marie-tooth disease. the dominant cm...

Journal: :Archivos de la Sociedad Espanola de Oftalmologia 2015
E J Anaya-Pava R I Cárdenas-Hernández

CASE REPORT We describe a patient diagnosed with Charcot-Marie-Tooth disease, with a 4 months history of bilateral decreased visual acuity and floaters. On examination, he had severe bilateral vitreous opacity and sectoral diffuse vascular sheathing. It could not be linked to some underlying aetiology and did not respond to oral steroids. CONCLUSIONS Publications relating to ocular findings i...

Journal: :Middle East journal of anaesthesiology 2016
Khalid R Alzaben Omar Q Samarah Salameh S Obeidat Oday Halhouli Murad Al Kharabsheh

Charcot-Marie-Tooth disease comprises a group of disorders characterized by progressive muscle weakness and wasting. Reviewing the anaesthetic literature produced conflicting reports about the best anaesthetic options for patients with CMTD; as they are at increased risk of prolonged response to muscle relaxants, malignant hyperthermia and risks of regional anaesthesia. We present a case of the...

Journal: :Pediatric Neurology Briefs 2005

Journal: :Clinical and Experimental Neuroimmunology 2020

Journal: :Southern African Journal of Anaesthesia and Analgesia 2006

Journal: :Cochrane Database of Systematic Reviews 2008

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