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1
المؤلفون: Fabrice Michel, Cristina Domínguez-González, Gabriel Viennet, H. Orhan Akman, Johanna Nilsson, Carola Hedberg-Oldfors, Cornelia Kornblum, Aurelio Hernández-Laín, Salvatore DiMauro, Norma B. Romero, Peter Van den Bergh, Anders Oldfors, Andrew G. Engel, Edoardo Malfatti
المصدر: Annals of Neurology. 76:891-898
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Glycogenin, Skeletal muscle, Biology, Compound heterozygosity, medicine.disease, 3. Good health, Glycogen debranching enzyme, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, Neurology, Internal medicine, medicine, biology.protein, Glycogen storage disease, Neurology (clinical), medicine.symptom, Myopathy, Glycogen synthase, GSK3B, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf0f6d180b7e5aae9952ad294fc083dTest
https://doi.org/10.1002/ana.24284Test -
2
المؤلفون: Martin Bojar, S Bensa, A. V. Swan, Hugh J. Willison, P.A. van Doorn, Isabel Illa, Giacomo P. Comi, Marinos C. Dalakas, Richard A. C. Hughes, Peter Van den Bergh, Eduardo Nobile-Orazio
المصدر: Annals of Neurology. 50:195-201
مصطلحات موضوعية: Male, medicine.medical_specialty, Randomization, medicine.drug_class, Prednisolone, Administration, Oral, law.invention, Route of administration, Double-Blind Method, Randomized controlled trial, law, hemic and lymphatic diseases, Internal medicine, medicine, Humans, Adverse effect, business.industry, Immunoglobulins, Intravenous, Polyradiculoneuropathy, Middle Aged, Prognosis, medicine.disease, Crossover study, Surgery, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Neurology, Corticosteroid, Female, Neurology (clinical), business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8af5a73f4e5e3dd8f4481b148b364ddTest
https://doi.org/10.1002/ana.1088Test -
3
المؤلفون: Thomas D. Bird, Pavel Seeman, Huy M. Huynh, Valerie A. Street, Radim Mazanec, Tomas Prochazka, Phillip F. Chance, Craig L. Bennett, Vincent Timmerman, Lionel Van Maldergem, Ivailo Tournev, Peter De Jonghe, Albena Jordanova, Andrew J. Shirk, Jana Haberlová, Eva Nelis, Velina Guergueltcheva, Michael D. Weiss, Peter Van den Bergh, Ivo Kremensky
المصدر: Annals of neurology. 55(5)
مصطلحات موضوعية: Proband, Male, Pathology, medicine.medical_specialty, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Charcot-Marie-Tooth Disease, medicine, Missense mutation, Humans, Late endosome, Aged, Mutation, Haplotype, Nuclear Proteins, Middle Aged, medicine.disease, Sciatic Nerve, Pedigree, Peripheral neuropathy, Neurology, Female, Neurology (clinical), Sciatic nerve, Neuroscience, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f9d14155a1200c226c4a890201d496Test
https://pubmed.ncbi.nlm.nih.gov/15122712Test -
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المؤلفون: Peter Hackman, Sylvie Marchand, Bjarne Udd, Peter Van den Bergh, Isabelle Richard, Olivier Bouquiaux, Christine Verellen
المصدر: Annals of neurology. 54(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Mutational Analysis, Muscle Proteins, Locus (genetics), Biology, Asymptomatic, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Tibialis anterior muscle, Belgium, Internal medicine, medicine, Humans, Point Mutation, Connectin, Family, Muscular dystrophy, Myopathy, Muscle, Skeletal, Creatine Kinase, Gait Disorders, Neurologic, 030304 developmental biology, Subclinical infection, Aged, 0303 health sciences, Leg, Electromyography, Anatomy, DNA, Exons, Middle Aged, medicine.disease, Penetrance, Pedigree, stomatognathic diseases, Neurology, biology.protein, Titin, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, human activities, Protein Kinases, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbb5d62d3982a7bd5711ab5ba1d94b92Test
https://pubmed.ncbi.nlm.nih.gov/12891679Test -
5دورية أكاديمية
المؤلفون: Craig L. Bennett, Andrew J. Shirk, Huy M. Huynh, Valerie A. Street, Eva Nelis, Lionel Van Maldergem, Peter De Jonghe, Albena Jordanova, Velina Guergueltcheva, Ivailo Tournev, Peter Van den Bergh, Pavel Seeman, Radim Mazanec, Tomas Prochazka, Ivo Kremensky, Jana Haberlova, Michael D. Weiss, Vincent Timmerman
المصدر: Annals of Neurology; May2004, Vol. 55 Issue 5, p713-720, 8p