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http://dx.doi.org/10.1007/s00415-013-7179-5 | DOI Listing |
Am J Med Sci
September 2024
Wellington Regional Medical Center, Wellington, FL, USA.
J Hist Neurosci
October 2021
Former Head of the Department of Neurology, Schlosspark-Klinik Berlin, Berlin, Germany.
As an internist, Wilhelm Erb (1840-1921) developed neurology (he also used the term "neuropathology" synonymously) in the tradition of his teacher, Nikolaus Friedreich, in Heidelberg. He left behind a huge corpus of semiological and nosological elements that now constitute our current knowledge of neurology, much more than just the eponyms associated with his name. In 1891, he founded the journal [Journal of Neurology] together with internist-neurologist colleagues, thus creating the counterpart to the [Archive for Psychiatry and Neurology], which was founded by Berlin neuropsychiatrists Wilhelm Griesinger and Carl Westphal.
View Article and Find Full Text PDFJ Neurol
October 2014
Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
J Neurochem
August 2013
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative ataxic syndrome which bears his name, his description remains at the core of the classical clinical phenotype of gait and limb ataxia, poor balance and coordination, leg weakness, sensory loss, areflexia, impaired walking, dysarthria, dysphagia, eye movement abnormalities, scoliosis, foot deformities, cardiomyopathy and diabetes. Onset is typically around puberty with slow progression and shortened life-span often related to cardiac complications. Inheritance is autosomal recessive with the vast majority of cases showing an unstable intronic GAA expansion in both alleles of the frataxin gene on chromosome 9q13.
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