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1Co-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 -
2
المؤلفون: Massimo Corbo, Andrea Lizio, Valeria A. Sansone, Massimo Bettinelli, Christian Lunetta, Valentina Gatti, Mario Melazzini, Nadia Maria Cellotto, Eleonora Maestri, Giovanni Meola
المصدر: Journal of neurology. 263(1)
مصطلحات موضوعية: 0301 basic medicine, Male, Vital capacity, medicine.medical_specialty, Severity of Illness Index, law.invention, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Randomized controlled trial, Quality of life, law, Rating scale, Severity of illness, Outcome Assessment, Health Care, medicine, Humans, Single-Blind Method, Amyotrophic lateral sclerosis, Aged, business.industry, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, Exercise Therapy, 030104 developmental biology, Neurology, Cohort, Physical therapy, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f836623463947a9bcf25f17778633cTest
https://pubmed.ncbi.nlm.nih.gov/26477027Test