نتایج جستجو برای: charcot marie
تعداد نتایج: 11416 فیلتر نتایج به سال:
Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine-Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are kn...
JAMES R. GUM, JR.,1,2 JAMES W. HICKS,3 ANNE-MARIE GILLESPIE,4 ELAINE J. CARLSON,4 LAZLO KÖMÜVES,5 SATYAJIT KARNIK,1 JOE C. HONG,3 CHARLES J. EPSTEIN,4 AND YOUNG S. KIM1,3 1Gastrointestinal Research Laboratory, Department of Veterans Affairs Medical Center, San Francisco 94121; and Departments of 2Anatomy, 3Medicine, 4Pediatrics, and 5Dermatology, University of California at San Francisco, Calif...
Title: A study on the implementation fidelity of the performance-based financing policy in Burkina Faso after 12 months Authors: Oriane Bodson ([email protected]) Ahmed Barro ([email protected]) Anne-Marie Turcotte-Tremblay ([email protected]) Nestor Zanté ([email protected]) André Somé ([email protected]) Valéry Ridde ([email protected]) Vers...
We explore the functional, developmental, and evolutionary processes which are argued to produce tooth reduction in the extinct marine reptile Stenopterygius quadriscissus (Reptilia: Ichthyosauria). We analyze the relationship between mandible growth and tooth size, shape, and count, to establish an ontogenetic trend. The pattern in S. quadriscissus is consistent with hypotheses of tooth size r...
The ganglioside-induced differentiation-associated protein 1 (GDAP1) is a mitochondrial fission factor and mutations in GDAP1 cause Charcot-Marie-Tooth disease. We found that Gdap1 knockout mice (Gdap1(-/-)), mimicking genetic alterations of patients suffering from severe forms of Charcot-Marie-Tooth disease, develop an age-related, hypomyelinating peripheral neuropathy. Ablation of Gdap1 expre...
OBJECTIVE The objective of this paper was to present a report in which the Bournemouth Questionnaire was used as an outcome measure in the treatment and rehabilitation of an individual previously diagnosed with Charcot-Marie-Tooth disease and concurrently suffering with mechanical neck and arm pain. DESIGN ARCHITECTURE: This was a retrospective case report. SAMPLE PROFILE: An individual over 18...
OBJECTIVES Myotonic dystrophy is a disease characterised by myotonia and muscle weakness. Psychiatric disorder and sleep problems have also been considered important features of the illness. This study investigated the extent to which apathy, major depression, and hypersomnolence were present. The objective was to clarify if the apathy reported anecdotally was a feature of CNS involvement or if...
Geoffrey J McColl MEd, PhD, FRACP ITraining, which was led by Professor Andrew Wilson and Dr Anne-Marie Feyer. The purpose of the review was “to examine the current medical internship model and consider potential reforms to support medical graduate transition into practice and further training”. The review involved regular interaction with external stakeholders, including the invitation of subm...
S OF MAGAZINE ARTICLES MARIE-FRANCINE MOENS and JOS DUMORTIER {marie-france.moens, jos.dumortier}@law.kuleuven.ac.be Interdisciplinary Centre for Law & IT (ICRI) , Katholieke Universiteit Leuven Tiensestraat 41, B-3000 Leuven, Belgium Browsing a database of article abstracts is one way to select and buy relevant magazine articles online. Our research contributes to the design and development of...
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