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المؤلفون: Nuria Muelas, Zohar Argov, Juan J. Vílchez, Sini Penttilä, Volker Straub, Carsten Bonneman, Patricia G. Wheeler, Kathryn R. Wagner, Phillipa J. Lamont, Rebecca Gooding, Kym M. Boycott, Gerald F. Cox, Alan H. Beggs, Jahannaz Dastgir, Alexandru Barboi, Anne M. Connolly, David Hilton-Jones, E. Schmedding, Johanna Palmio, Elizabeth T. DeChene, NP Davies, Heinz Jungbluth, Tiina Suominen, Bjarne Udd, Kate Bushby, Peter Van den Bergh, William Wallefeld, Nigel G. Laing, Elizabeth Wraige, Christopher Staples
المساهمون: Neuroprotection & Neuromodulation
المصدر: Human mutation. 35(7)
مصطلحات موضوعية: Proband, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Child, preschool, Biopsy, DNA Mutational Analysis, Cardiomyopathy, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Myosin, Genetics, medicine, Missense mutation, Humans, Myopathy, Child, Muscle, Skeletal, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, Myosin Heavy Chains, Infant, Newborn, Skeletal muscle, Infant, Middle Aged, medicine.disease, Immunohistochemistry, 3. Good health, Distal Myopathies, medicine.anatomical_structure, Phenotype, young adult, MYH7, Female, medicine.symptom, mutation, Cardiac Myosins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d5f95eec553d1cc27eafb63d53104cTest
http://ora.ox.ac.uk/objects/uuid:95321b62-c413-45d4-81cd-c9728f1b6a5fTest -
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المؤلفون: Haluk Topaloglu, Els De Vriendt, Argirios Dinopoulos, Esra Battaloglu, Kim Van Hoorenbeeck, Berten Ceulemans, Vincent Timmerman, Patrick Van Bogaert, Jonathan Baets, A. Pou-Serradell, Michaela Auer-Grumbach, Albena Jordanova, Yesim Parman, Peter Van den Bergh, Ricardo E. Madrid, Andrzej Kochański, Magdalena Zimoń, Dagmara Kabzińska, K. Peeters, Laetitia Yperzeele, Geoffrey P. Miller, Gian Maria Fabrizi, Günther Bernert, Birdal Bilir, Peter De Jonghe, Ronen Spiegel, Fernand Pauly, Satu-Leena Sallinen, Tine Deconinck
المساهمون: Çocuk Sağlığı ve Hastalıkları, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Brain, 134 (Pt 9
Brain
Brain : a journal of neurology, Vol. 134, no. 9, p. 2664-2676 (2011)مصطلحات موضوعية: Génétique clinique, genotype-phenotype correlations, DNA Mutational Analysis, Disease, Charcot–Marie–Tooth disease, Dejerine-Sottas neuropathy, medicine.disease_cause, Bioinformatics, Cohort Studies, 0302 clinical medicine, Charcot-Marie-Tooth Disease, SH3TC2, Gene duplication, Age of Onset, Child, Genetics, 0303 health sciences, Mutation, early onset hereditary neuropathies, congenital hypomyelinating neuropathy, Dejerine–Sottas neuropathy, genotype–phenotype correlations, Middle Aged, Hypotonia, Phenotype, Child, Preschool, Hereditary Sensory and Motor Neuropathy -- genetics -- pathology -- physiopathology, medicine.symptom, Adult, Adolescent, Charcot-Marie-Tooth disease, 03 medical and health sciences, Young Adult, Neurologie, medicine, Humans, 030304 developmental biology, Aged, Genetic heterogeneity, business.industry, Infant, Original Articles, medicine.disease, Peripheral neuropathy, Charcot-Marie-Tooth Disease -- genetics -- pathology -- physiopathology, Neurology (clinical), Human medicine, Age of onset, business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery
وصف الملف: 2 full-text file(s): application/pdf; application/pdf; text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a38300dcc0daaeeed746ea51631b2759Test
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/108357Test