نتایج جستجو برای: charcot

تعداد نتایج: 4654  

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: :Arquivos de neuro-psiquiatria 2017
Hélio A G Teive Francisco M B Germiniani Renato P Munhoz

Jean-Martin Charcot (1825-1893), recognized as the founder of Neurology and the first formal teacher of nervous system diseases, died on August 16, 1893, from acute pulmonary edema secondary to myocardial infarction. In his last years, there were several descriptions of his gait and posture disorders, suggesting the diagnosis of "lower-half parkinsonism" due to cerebrovascular disease.

2014

Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...

2012
Aleksandra Konarzewska Ludomira Rzepecka-Wejs Anna Korzon-Burakowska

The paper presents a case of Charcot foot in a patient with long standing type 2 diabetes and complicated by peripheral neuropathy. It was initially diagnosed by an ultrasound examination and subsequently confirmed by an X-ray and an magnetic resonance imaging. Diabetic neuropathy is nowadays the most frequent cause of Charcot arthropathy, although it can be also a result of other diseases of t...

Journal: :European neurology 2009
Julien Bogousslavsky Olivier Walusinski Denis Veyrunes

Hysteria and hypnotism became a favorite topic of studies in the fin de siècle neurology that emerged from the school organized at La Salpêtrière by Jean-Martin Charcot, where he had arrived in 1861. Georges Gilles de la Tourette started working with Charcot in 1884 and probably remained his most faithful student, even after his mentor's death in 1893. This collaboration was particularly intens...

Journal: :The New England journal of medicine 2010
James R Lupski Jeffrey G Reid Claudia Gonzaga-Jauregui David Rio Deiros David C Y Chen Lynne Nazareth Matthew Bainbridge Huyen Dinh Chyn Jing David A Wheeler Amy L McGuire Feng Zhang Pawel Stankiewicz John J Halperin Chengyong Yang Curtis Gehman Danwei Guo Rola K Irikat Warren Tom Nick J Fantin Donna M Muzny Richard A Gibbs

BACKGROUND Whole-genome sequencing may revolutionize medical diagnostics through rapid identification of alleles that cause disease. However, even in cases with simple patterns of inheritance and unambiguous diagnoses, the relationship between disease phenotypes and their corresponding genetic changes can be complicated. Comprehensive diagnostic assays must therefore identify all possible DNA c...

Journal: :The British journal of venereal diseases 1967
A L Thorburn

Jean Martin Charcot, the father of modem neurology, was born in Paris on November 29, 1825, within the sound of the bells of Notre Dame and in an epoch of great political and economic struggle. He lived through a period which covered the ending of the French revolution, the Napoleonic era, the restoration of the Bourbons and Napoleon III, and the occupation of Paris by the Prussians in the Fran...

Journal: :Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin 1888

Journal: :Annals of Physical and Rehabilitation Medicine 2011

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