نتایج جستجو برای: charcot marie tooth

تعداد نتایج: 97261  

Journal: :Revista Médica Clínica Las Condes 2018

Journal: :Brain : a journal of neurology 2012
Janos Groh Joachim Weis Hanna Zieger E Richard Stanley Heike Heuer Rudolf Martini

Previous studies in our laboratory have shown that in models for three distinct forms of the inherited and incurable nerve disorder, Charcot-Marie-Tooth neuropathy, low-grade inflammation implicating phagocytosing macrophages mediates demyelination and perturbation of axons. In the present study, we focus on colony-stimulating factor-1, a cytokine implicated in macrophage differentiation, activ...

Journal: :The New England journal of medicine 2011
Olivia Boyer Fabien Nevo Emmanuelle Plaisier Benoit Funalot Olivier Gribouval Geneviève Benoit Evelyne Huynh Cong Christelle Arrondel Marie-Josèphe Tête Rodrick Montjean Laurence Richard Alexandre Karras Claire Pouteil-Noble Leila Balafrej Alain Bonnardeaux Guillaume Canaud Christophe Charasse Jacques Dantal Georges Deschenes Patrice Deteix Odile Dubourg Philippe Petiot Dominique Pouthier Eric Leguern Anne Guiochon-Mantel Isabelle Broutin Marie-Claire Gubler Sophie Saunier Pierre Ronco Jean-Michel Vallat Miguel Angel Alonso Corinne Antignac Géraldine Mollet

BACKGROUND Charcot-Marie-Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying the neuropathy and FSGS remain unknown. Mutations in INF2 were recently identified in patients with autosomal dominant FSGS. INF2 encodes a formin protein that interacts with the Rho-GTPase CDC42 and myelin ...

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: :Medecine sciences : M/S 2004
Michel Fontès

Montréal. Il a pour mission la promotion et la valorisation de la recherche. Érudit offre des services d'édition numérique de documents scientifiques depuis 1998. Pour communiquer avec les responsables d'Érudit : [email protected] Article « L'acide ascorbique, un médicament de première génération pour la maladie de Charcot-Marie-Tooth de type 1A ? / Ascorbic acid : a first generation drug for Cha...

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: :Neuroscience Bulletin 2014

Journal: :médecine/sciences 2017

2014
Rune Østern Øivind Nilssen Svein Ivar Mellgren

Journal: :the archives of bone and joint surgery 0
mohammad naghi tahmasebi shariati hospital, tehran university of medical siences, tehran, iran gholamreza ghorbani amjad shariati hospital, tehran university of medical siences, tehran, iran mohammad hasan kaseb imam khomeni , tehran university of medical siences, tehran, iran kaveh bashti shariati hospital, tehran university of medical siences, tehran, iran

multiplanar or global laxity in arthritic knee is rare , most of this patients have neuromuscular disorder (post poliomyelitis , spinal dystrophy) or history of knee trauma. ligament insufficiency and severe bone loss is significant in this patient. the estimated prevalence for the concurrence of charcot marie-tooth (cmt) with myasthenia gravis (mg) suggests an extremely rare event. we have pre...

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