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

المؤلفون: Georges Mer, Kaori Hojo, Shana L. Merrill, Jessica Deleon, Peter Van den Bergh, Maria Victoria Botuyan, Noah Beadell, Inès Mademan, Christopher J. Klein, Gregory A. Worrell, Yanhong Wu, Henry Houlden, Nicole McGrath, Jan Senderek, Gordon Smith, Jonathan Baets, Xiaohui Duan, Mary M. Reilly, Julie Khoury, Murray Grossman, Joachim Weis, Matilde Laura, William W. Seeley, Steven S. Scherer, Peter De Jonghe, Yo Tsen Liu, Peter J. Dyck

المصدر: Brain

مصطلحات موضوعية: Adult, DNA (Cytosine-5-)-Methyltransferase 1, Male, Bioinformatics, medicine.disease_cause, environment and public health, Protein Structure, Secondary, 03 medical and health sciences, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Hereditary sensory and autonomic neuropathy, medicine, Autophagy, Humans, DNA (Cytosine-5-)-Methyltransferases, Cognitive decline, Hereditary Sensory and Autonomic Neuropathies, Cognitive deficit, Cellular localization, 030304 developmental biology, Aged, Genetics, 0303 health sciences, Mutation, Cerebellar ataxia, urogenital system, Original Articles, Middle Aged, medicine.disease, 3. Good health, Pedigree, HEK293 Cells, embryonic structures, Female, Neurology (clinical), Human medicine, medicine.symptom, Nervous System Diseases, Psychology, 030217 neurology & neurosurgery, Narcolepsy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98f4def148fad12e85799ea261ea18ddTest
https://pubmed.ncbi.nlm.nih.gov/25678562Test

المؤلفون: Radim Mazanec, Nathalie Goemans, Albena Jordanova, H.-J. Christen, Christine Verellen, James R. Lupski, Jan De Bleecker, Paolo Vinci, Matthias Van Hul, Kristien Verhoeven, Rudy Van Coster, Els De Vriendt, Andrzej Kochański, Wim Robberecht, Jeffery M. Vance, Velina Guergueltcheva, Peter De Jonghe, Ian J. Butler, Gulam Mustafa Saifi, Peter Vieregge, Vedrana Milic Rasic, Filip Roelens, J. Michael Schröder, Eva Nelis, Chantal Ceuterick, Kristl Claeys, Pavel Seeman, Kinga Szigeti, Barbara Ryniewicz, Pedro Mancias, Stephan Züchner, Yoram Nevo, I. Tournev, Vincent Timmerman, María Teresa García Moreno, Michaela Auer-Grumbach, Joachim Weis, Peter Van den Bergh, Michael E. Shy

المصدر: Brain

مصطلحات موضوعية: Pathology, medicine.disease_cause, Severity of Illness Index, GTP Phosphohydrolases, 0302 clinical medicine, Degenerative disease, Charcot-Marie-Tooth Disease, Genotype, mitofusin 2, Age of Onset, Child, 0303 health sciences, Mutation, education.field_of_study, Middle Aged, Electrophysiology, medicine.anatomical_structure, Phenotype, Child, Preschool, Sensory nerve, Adult, medicine.medical_specialty, Adolescent, Population, Sural nerve, Biology, genotype-phenotype correlation, Mitochondrial Proteins, 03 medical and health sciences, Atrophy, atrophy, Sural Nerve, medicine, features, Humans, education, gene, 030304 developmental biology, Aged, Membrane Proteins, medicine.disease, charcot-marie-tooth type 2, mitofusin-2, Surgery, Microscopy, Electron, disease type-2, neuropathy, Neurology (clinical), Age of onset, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fbd19685d12f10b9f298f3ffdd049b5Test
https://pubmed.ncbi.nlm.nih.gov/16714318Test

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