نتایج جستجو برای: charcot marie

تعداد نتایج: 11416  

2011
Jonathan Baets Tine Deconinck Els De Vriendt Magdalena Zimoń Laetitia Yperzeele Kim Van Hoorenbeeck Kristien Peeters Ronen Spiegel Yesim Parman Berten Ceulemans Patrick Van Bogaert Adolf Pou-Serradell Günther Bernert Argirios Dinopoulos Michaela Auer-Grumbach Satu-Leena Sallinen Gian Maria Fabrizi Fernand Pauly Peter Van den Bergh Birdal Bilir Esra Battaloglu Ricardo E. Madrid Dagmara Kabzińska Andrzej Kochanski Haluk Topaloglu Geoffrey Miller Albena Jordanova Vincent Timmerman Peter De Jonghe

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...

1999
JAMES R. GUM JAMES W. HICKS ANNE-MARIE GILLESPIE ELAINE J. CARLSON LAZLO KÖMÜVES SATYAJIT KARNIK JOE C. HONG CHARLES J. EPSTEIN YOUNG S. KIM James W. Hicks Anne-Marie Gillespie Elaine J. Carlson Lazlo Kömüves Satyajit Karnik Joe C. Hong Charles J. Epstein

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...

2017
Oriane Bodson Ahmed Barro

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...

Journal: :PloS one 2015
Daniel G Dick Erin E Maxwell

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...

2014
Axel Niemann Nina Huber Konstanze M. Wagner Christian Somandin Michael Horn Frédéric Lebrun-Julien Brigitte Angst Jorge A. Pereira Hartmut Halfter Hans Welzl M. Laura Feltri Lawrence Wrabetz Peter Young Carsten Wessig Klaus V. Toyka Ueli Suter

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...

Journal: :The Journal of the Canadian Chiropractic Association 2006
Paul Rankin

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...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1998
J S Rubinsztein D C Rubinsztein S Goodburn A J Holland

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...

Journal: :Brain : a journal of neurology 2013
Dana Šafka Brozková Petra Laššuthová Jana Neupauerová Marcela Krůtová Jana Haberlová David Stejskal Pavel Seeman

Journal: :The Medical journal of Australia 2016
Susannah F Ahern Peter T Morley Geoffrey J McColl

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...

2000
Marie-Francine Moens Jos Dumortier

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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