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1
المؤلفون: Gabriele Siciliano, Carmelo Chisari, Sonia Messina, Giovanni Iolascon, Antimo Moretti, Valeria A. Sansone, Tiziana Mongini, Michele Vitacca, Antonio Toscano, Elena Carraro, Pietro Fiore
المساهمون: Iolascon, Giovanni, Vitacca, Michele, Carraro, Elena, Chisari, Carmelo, Fiore, Pietro, Messina, Sonia, Mongini, Tiziana, Moretti, Antimo, Sansone, Valeria A, Toscano, Antonio, Siciliano, Gabriele
المصدر: Neurological Sciences. 41:859-868
مصطلحات موضوعية: Adult, medicine.medical_specialty, Neurology, Adolescent, medicine.medical_treatment, Therapeutic exercise, Dermatology, Disease, Breathing Exercises, Adapted physical activity, Glycogen storage disease type II, ICF, Pompe disease, Rehabilitation, Age of Onset, Bicycling, Child, Clinical Protocols, Exercise Therapy, Glycogen Storage Disease Type II, Humans, Muscle Stretching Exercises, Muscular Diseases, Resistance Training, Exercise, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Quality of life, Medicine, Aerobic exercise, Pulmonary rehabilitation, 030212 general & internal medicine, business.industry, General Medicine, Psychiatry and Mental health, Neurology (clinical), Neurosurgery, Age of onset, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45f64920c1d3a757eeb197830844621Test
https://doi.org/10.1007/s10072-019-04178-7Test -
2
المؤلفون: Valeria A, Sansone, Emilio, Albamonte, Francesca, Salmin, Jacopo, Casiraghi, Alice, Pirola, Massimo, Bettinelli, Fabrizio, Rao, Luca, Mancini, Nicola, Tovaglieri, Fausto, Fedeli, Paolo, Stoia, Maurizio, Heinen, Valeria, Cozzi, Elena, Carraro, Christian, Lunetta, Alessandra, Di Bari, Eugenio, Mercuri, Cristina, Ponzanelli
المصدر: Neurological Sciences. 40:327-332
مصطلحات موضوعية: medicine.medical_specialty, Patient Dropouts, Neurology, Adolescent, Oligonucleotides, Dermatology, Intrathecal, Spinal Puncture, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Multidisciplinary approach, medicine, Humans, Family, 030212 general & internal medicine, Geography, Medical, Child, Injections, Spinal, Patient Care Team, Delivery of Health Care, Integrated, business.industry, Infant, General Medicine, Neuromuscular clinic, SMA, Spine, Integrated care, Psychiatry and Mental health, Neuroprotective Agents, Scoliosis, Child, Preschool, Physical therapy, Nusinersen, Neurology (clinical), Neurosurgery, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23815d6655b601f7c9e8f79463b46e3fTest
https://doi.org/10.1007/s10072-018-3622-9Test -
3
المؤلفون: Valeria A. Sansone, Giacomo P. Comi, Francesca Magri, Sabrina Lucchiari, Nereo Bresolin, Stefania Corti, Gianna Ulzi
المصدر: Molecular Biology Reports. 41:2865-2874
مصطلحات موضوعية: Adult, Male, Adolescent, Myotonia Congenita, RNA Splicing, DNA Mutational Analysis, Neuromuscular transmission, In Vitro Techniques, Young Adult, Exon, Chloride Channels, Gene Order, Genetics, Humans, Child, Molecular Biology, Gene, Alleles, CLCN1, biology, Intron, General Medicine, Molecular biology, genomic DNA, Mutation, RNA splicing, biology.protein, Female, RNA Splice Sites, Minigene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24a544ce2a4e77ab2bc7e8da6da5418aTest
https://doi.org/10.1007/s11033-014-3142-5Test -
4Co-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