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المؤلفون: Eva Nelis, Peter De Jonghe, Josef Priller, Vanio Mitev, Tine Deconinck, Pavel Seeman, Michael W. Sereda, Erik Björck, Jana Haberlová, Albena Jordanova, Neviana Ivanova, Rudy Mercelis, Barbara Plecko, Garth A. Nicholson, Josef Zamecnik, Ann Löfgren, Ivan Litvinenko, Michaela Auer-Grumbach, Berten Ceulemans, Gisele Smeyers, Kristl G. Claeys, Anne Kjersti Erichsen, Ivo Kremensky
المصدر: Archives of neurology
مصطلحات موضوعية: Proband, Adult, Male, medicine.medical_specialty, Adolescent, Hereditary spastic paraplegia, Population, DNA Mutational Analysis, Vesicular Transport Proteins, Gastroenterology, Frameshift mutation, Cohort Studies, Polyneuropathies, Arts and Humanities (miscellaneous), Internal medicine, Genotype, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Age of Onset, education, Child, Aged, Family Health, education.field_of_study, business.industry, Spastic Paraplegia, Hereditary, Aminobutyrates, Membrane Proteins, Middle Aged, medicine.disease, Penetrance, Amides, Surgery, Butyrates, Mutation, Female, Neurology (clinical), Age of onset, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8765b0c47a408d31e146ebb8a11ca55Test
https://hdl.handle.net/10067/646660151162165141Test -
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المؤلفون: Eva Nelis, Christine Van Broeckhoven, Ann Löfgren, Jean-Jacques Martin, Chantal Ceuterick, Peter De Jonghe, Els De Vriendt, Vincent Timmerman
المصدر: Archives of neurology
مصطلحات موضوعية: Genetic Markers, Male, Proband, Pathology, medicine.medical_specialty, Genotype, Genetic Linkage, Biopsy, DNA Mutational Analysis, Neural Conduction, Locus (genetics), Nerve Fibers, Myelinated, Arts and Humanities (miscellaneous), Charcot-Marie-Tooth Disease, Genetic linkage, Peripheral myelin protein 22, medicine, Humans, Promoter Regions, Genetic, Ulnar Nerve, Genes, Dominant, Family Health, medicine.diagnostic_test, business.industry, Myelin protein zero, Middle Aged, medicine.disease, Median Nerve, Pedigree, Electrophysiology, Phenotype, Chromosomes, Human, Pair 1, Genetic marker, Female, Chromosomes, Human, Pair 3, Neurology (clinical), business, Hereditary motor and sensory neuropathy, Chromosomes, Human, Pair 7, Myelin Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da312db4cdaaac17ec6670aba30469b7Test
https://hdl.handle.net/10067/261090151162165141Test