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1
المؤلفون: Lucio Tremolizzo, Valeria A. Sansone, Andrea Lizio, Jonica Campolo, Christian Lunetta, Claudia Tarlarini, Francesca Gerardi, Lorena Mosca, Cinzia Dellanoce, Susanna Diamanti, Massimo Filippi, Nilo Riva
المساهمون: Lunetta, C, Lizio, A, Gerardi, F, Tarlarini, C, Filippi, M, Riva, N, Tremolizzo, L, Diamanti, S, Dellanoce, C, Mosca, L, Sansone, V, Campolo, J, Lunetta, C., Lizio, A., Gerardi, F., Tarlarini, C., Filippi, M., Riva, N., Tremolizzo, L., Diamanti, S., Dellanoce, C. C., Mosca, L., Sansone, V. A., Campolo, J.
المصدر: Journal of neurology. 267(12)
مصطلحات موضوعية: medicine.medical_specialty, Neurology, Prognosi, Urinary system, Urine, Disease, Gastroenterology, Neopterin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Humans, 030212 general & internal medicine, Respiratory system, Amyotrophic lateral sclerosis, business.industry, Amyotrophic Lateral Sclerosis, Biomarker, Prognosis, medicine.disease, Cross-Sectional Studies, chemistry, Disease Progression, Biomarker (medicine), Neurology (clinical), business, 030217 neurology & neurosurgery, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e70d625771e8e0297be774cd14018b52Test
https://pubmed.ncbi.nlm.nih.gov/33833664Test -
2Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2
المؤلفون: Olayinka Raheem, Laura Valentina Renna, Fabrizio Rinaldi, Annalisa Botta, Enrico Bugiardini, Bjarne Udd, Giovanni Meola, Valeria A. Sansone, Giuseppe Novelli, Rosanna Cardani, Sini Penttilä, Alessandra Morgante, M. Giagnacovo, Tiina Suominen
المصدر: Journal of Neurology. 259:2090-2099
مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Biology, medicine.disease_cause, Fluorescence, chemistry.chemical_compound, Chloride Channels, Internal medicine, medicine, Myotonic Dystrophy, Humans, MBNL1, Age of Onset, Muscular dystrophy, Muscle, Skeletal, Southern, In Situ Hybridization, Fluorescence, In Situ Hybridization, Southern blot, Mutation, CLCN1, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, Blotting, Myotonia congenita, RNA-Binding Proteins, Skeletal, Middle Aged, medicine.disease, Myotonia, Myotonic Disorders, Blotting, Southern, Immunohistochemistry, Female, Endocrinology, Settore MED/03 - Genetica Medica, Neurology, chemistry, biology.protein, Muscle, Neurology (clinical), Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85876aef4afc8bb8fe0cdc0a6d64db13Test
https://doi.org/10.1007/s00415-012-6462-1Test