المؤلفون: Matt Parton, Wei Wei Liu, Maryam Sedghi, Andrew M. Schaefer, Maria Elena Farrugia, Katsiaryna Belaya, Susan Maxwell, Jacqueline Palace, Hanns Lochmüller, Simon J. McGowan, Keivan Basiri, Anna Sarkozy, Wyatt W. Yue, Kate Bushby, Matthew Pitt, David Beeson, Richard E. Petty, Timothy J. Walls, Pedro M. Rodríguez Cruz, Marta Bertoli, Robin Kennett, Francesco Muntoni

المصدر: Brain

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Weakness, glycosylation, Adolescent, DNA Mutational Analysis, Neuromuscular transmission, Neuromuscular Junction, GMPPB, Transfection, Neuromuscular junction, dystroglycan, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Medicine, Humans, Repetitive nerve stimulation, Muscular dystrophy, Myopathy, Dystroglycans, Muscle, Skeletal, 030304 developmental biology, Family Health, Myasthenic Syndromes, Congenital, 0303 health sciences, business.industry, neurotransmission defect, DPAGT1, Original Articles, Congenital myasthenic syndrome, medicine.disease, Magnetic Resonance Imaging, Nucleotidyltransferases, 3. Good health, medicine.anatomical_structure, HEK293 Cells, congenital myasthenic syndrome, Immunology, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4caad57ca8c6d0ca5b81ac994de9e2ceTest
http://europepmc.org/articles/PMC4547052Test

المؤلفون: C. Scotton, Mark Roberts, Judith N Hudson, E. Harris, Hanns Lochmüller, Bas Vroling, Teresinha Evangelista, Chiara Marini-Bettolo, Umar Burki, Tuomo Polvikoski, Rita Barresi, Marcella Neri, Marta Bertoli, Ana Töpf, Kate Bushby, Volker Straub, Daniel McArthur, Alessandra Ferlini

مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Exome sequencing, DNA Mutational Analysis, Cell Culture Techniques, medicine.disease_cause, Pediatrics, Dyslexia, 0302 clinical medicine, Hypocalcaemia, Genetics (clinical), Blood Platelet Disorders, Mutation, Ichthyosis, Middle Aged, Miosis, Perinatology and Child Health, Store-operated calcium entry, Magnetic Resonance Imaging, Neoplasm Proteins, Neurology, STIM1, Stormorken syndrome, Tubular aggregate myopathy, York platelet syndrome, Pediatrics, Perinatology and Child Health, Neurology (clinical), Muscle Fatigue, Female, medicine.symptom, Myopathies, Structural, Congenital, inorganic chemicals, Adult, Asplenia, Migraine Disorders, Erythrocytes, Abnormal, Socio-culturale, 03 medical and health sciences, medicine, Humans, Stromal Interaction Molecule 1, Myopathy, Muscle, Skeletal, Genetic Association Studies, Family Health, business.industry, Fibroblasts, medicine.disease, NAD, Bleeding diathesis, Microscopy, Electron, 030104 developmental biology, Immunology, Calcium, business, 030217 neurology & neurosurgery, Spleen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08f602728c67ab79a24d787c8492fde8Test
http://hdl.handle.net/11392/2384546Test

المؤلفون: Antonio Novelli, Eleonora Mazzone, Michele Benedetto, Andrea Tinelli, Annunziata Anna Epifania, Antonio Malvasi, Antonio Di Trani, Giuseppe Barrano, Domenico Dell’Edera, Manuela Leo, Damian Simona, Marta Bertoli

المصدر: Molecular Medicine Reports.

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Anemia, medicine.disease_cause, Biochemistry, Asymptomatic, Genetics, medicine, Humans, Glucuronosyltransferase, Promoter Regions, Genetic, Adverse effect, Molecular Biology, Hyperbilirubinemia, Mutation, business.industry, nutritional and metabolic diseases, Jaundice, medicine.disease, Gilbert's syndrome, Molecular medicine, Mutagenesis, Insertional, Glucosephosphate Dehydrogenase Deficiency, Italy, Oncology, Immunology, Molecular Medicine, Female, Gilbert Disease, medicine.symptom, business, Glucose-6-phosphate dehydrogenase deficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5775eb8fedfdd044de1a351f33f2dc22Test
https://doi.org/10.3892/mmr.2012.830Test