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https://www.readbyqxmd.com/read/15860915/the-klumpke-family-memories-by-doctor-d%C3%A3-jerine-born-augusta-klumpke
#1
Julien Bogousslavsky
In this paper, we present a translation of an unpublished autobiographical document by Augusta Déjerine-Klumpke, reporting her early years before she came to Paris to study medicine, when she was able to become one of the first women in France to hold a hospital position, as an extern and an intern. This American-born girl later married Jules Déjerine, who was to become the second successor to Charcot at La Salpétrière 23 years later. The present document gives a vivid account on the preceding years, and emphasizes the extraordinary dynamism and enthusiasm of a young woman, whose efforts and contributions influenced neurology at the turn of the 20th century, and dramatically changed the role of women in medical careers...
2005: European Neurology
https://www.readbyqxmd.com/read/11002699/-the-mart%C3%A3-n-larios-affair-and-the-beginnings-of-neurology-in-spain-charcot-refuted-by-escuder-vera-and-simarro
#2
I Corral Corral, C Corral Corral
Jean Martin Charcot travelled to Spain in December 1887 in the company of Alfred Hardy for the medical examination of Martin Larios y Larios, a member of the Spanish parliament. Martín Larios had shown behavioral disturbances and had married secretly for the second time against the advice of his family, one of the richest and more dominating families in Spain during the 19th century. In their report Charcot and Hardy gave a diagnosis of mental insanity probably due to general paresis, as they had noted memory deficits and delusion of grandeur...
June 2000: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/2591266/-x-linked-recessively-inherited-peroneal-muscular-atrophy
#3
D S Wang
This article presents a pedigree of 80 members of which there are 13 patients (13 males) with peroneal muscular atrophy. The analysis of this pedigree shows that an affected male married to a normal female will have normal son(s) and carrier-daughter(s). The normal son(s) will have normal offspring, but half the sons of the carrier-daughter(s) will be affected. The pathogenic genes of affected males are transmitted to their daughters, but not to their sons. So this inheritance is of X-linked recessive type...
June 1989: Zhonghua Shen Jing Jing Shen Ke za Zhi, Chinese Journal of Neurology and Psychiatry
https://www.readbyqxmd.com/read/1822787/duplication-in-chromosome-17p11-2-in-charcot-marie-tooth-neuropathy-type-1a-cmt-1a-the-hmsn-collaborative-research-group
#4
P Raeymaekers, V Timmerman, E Nelis, P De Jonghe, J E Hoogendijk, F Baas, D F Barker, J J Martin, M De Visser, P A Bolhuis
Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT 1) is an autosomal dominant disorder of the peripheral nervous system characterized by progressive weakness and atrophy of distal limb muscles. In the majority of HMSN I families, linkage studies localized the gene (CMT 1a) to the pericentromeric region of chromosome 17. We have detected with probe pVAW409R3 (D17S122) localized in 17p11.2 a duplication, co-segregating with the disease in 12 HMSN I families. In these families the duplication was present in all 128 patients but absent in the 84 unaffected and 44 married-in individuals (lod score of 58...
1991: Neuromuscular Disorders: NMD
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