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المؤلفون: Silvia Zia, Valeria A. Sansone, Barbara Roda, Pierluigi Reschiglian, Alessandra Ferlini, Wenyan Li, Francesca Gualandi, Andrea Barp, Andrea Grilli, Zhiyuan Lu, Silvio Bicciato, Federica Ricci, M. Fabris, Madhuri Hegde, Luca Bello, Tiziana Mongini, Paola Rimessi, Reem El Dani, Rachele Rossi, Maria Sofia Falzarano, Elena Pegoraro, Mingyan Fang, Rita Selvatici
المصدر: HGG Advances, Vol 3, Iss 1, Pp 100054-(2022)
Human Genetics and Genomics Advancesمصطلحات موضوعية: Antisense therapy, musculoskeletal diseases, Mutation, congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, government.form_of_government, Socio-culturale, RNA-Seq, Computational biology, Biology, QH426-470, medicine.disease_cause, medicine.disease, Article, Gene expression profiling, Transcription (biology), RNA splicing, medicine, government, biology.protein, Genetics, Molecular Medicine, Dystrophin, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e477b56a8959acf282748c98930674aTest
http://www.sciencedirect.com/science/article/pii/S266624772100035XTest -
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المؤلفون: Irene Meola, Maria Teresa Rinaudo, Giovanni de Marco, Christian Lunetta, Paola Origone, Emilio Albamonte, Adriano Chiò, Cristina Moglia, Paola Mandich, Valeria A. Sansone, Annarosa Lomartire, Rosario Vasta, Antonio Canosa, Andrea Calvo, Umberto Manera, Paola Lanteri
مصطلحات موضوعية: 0301 basic medicine, Proband, Aging, medicine.medical_specialty, Heterozygote, Juvenile amyotrophic lateral sclerosis, Gene Expression, Loss of Heterozygosity, Gene mutation, medicine.disease_cause, FUS gene, 03 medical and health sciences, Exon, 0302 clinical medicine, Internal medicine, medicine, Humans, Cognitive Dysfunction, RNA, Messenger, Truncated FUS protein expression, Child, Genetic Association Studies, Mutation, biology, business.industry, General Neuroscience, Amyotrophic Lateral Sclerosis, Wild type, Exons, 030104 developmental biology, Endocrinology, biology.protein, Disease Progression, RNA-Binding Protein FUS, Female, Neurology (clinical), Geriatrics and Gerontology, Antibody, business, 030217 neurology & neurosurgery, Nuclear localization sequence, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c9399758a8ee88ea463149dac02123Test
http://hdl.handle.net/2318/1778138Test -
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المؤلفون: Jeffrey Statland, W. David Arnold, Giovanni Meola, Michael G. Hanna, Samantha LoRusso, Baziel G.M. van Engelen, Stephen C. Cannon, Emma Matthews, Valeria A. Sansone, Jaya Trivedi, Bertrand Fontaine, Bas C. Stunnenberg, Richard J. Barohn, Robert C. Griggs, Savine Vicart
المساهمون: Gestionnaire, HAL Sorbonne Université 5, Radboud University Medical Center [Nijmegen], Ohio State University [Columbus] (OSU), University of Kansas Medical Center [Kansas City, KS, USA], David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California (UC)-University of California (UC), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), University of Rochester Medical Center (URMC), Institute of Neurology [London], University College of London [London] (UCL), Università degli Studi di Milano = University of Milan (UNIMI), University of Texas Southwestern Medical Center [Dallas], University of Kansas Medical Center [Lawrence], University of California-University of California, Centre de Recherche en Myologie, University of Milan
المصدر: Muscle & nerve. Supplement.
Muscle & nerve. Supplement., 2020, 62 (4), pp.430-444. ⟨10.1002/mus.26887⟩
Muscle Nerve
Muscle and Nerve, 62, 4, pp. 430-444
Muscle and Nerve, 62, 430-444مصطلحات موضوعية: 0301 basic medicine, Physiology, Electromyography, 030105 genetics & heredity, 0302 clinical medicine, Ranolazine, Age of Onset, NAV1.4 Voltage-Gated Sodium Channel, Carbonic Anhydrase Inhibitors, Fatigue, Voltage-Gated Sodium Channel Blockers, Muscle Weakness, biology, medicine.diagnostic_test, Electrodiagnosis, skeletal muscle channelopathies, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, Muscle relaxation, Paramyotonia congenita, Practice Guidelines as Topic, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, myotonia congenita, management, medicine.drug, Myotonic Disorders, Sodium Channel Blockers, musculoskeletal diseases, Weakness, medicine.medical_specialty, Mexiletine, Lamotrigine, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Chloride Channels, Physiology (medical), Internal medicine, medicine, Humans, Genetic Testing, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Muscle, Skeletal, nondystrophic myotonias, CLCN1, Myotonia congenita, business.industry, Myalgia, medicine.disease, Myotonia, paramyotonia congenita, Acetazolamide, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ec05a1420fbda18f320e371bf7d797Test
https://hal.sorbonne-universite.fr/hal-03461673Test -
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المؤلفون: Christian Lunetta, Michela Rusconi, Francesca Gerardi, Valeria A. Sansone, Andrea Lizio, Francesca Granucci, Ivan Zanoni, William Santus
المساهمون: Rusconi, M, Gerardi, F, Santus, W, Lizio, A, Sansone, V, Lunetta, C, Zanoni, I, Granucci, F
المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Lipopolysaccharide, Receptors, CCR2, Amyotrophic lateral sclerosis, dendritic cells, Science, Central nervous system, Inflammation, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Humans, Interleukin 8, L-Selectin, Amyotrophic lateral sclerosis, Interleukin 6, Chemokine CCL2, Multidisciplinary, biology, Interleukin-6, business.industry, Amyotrophic Lateral Sclerosis, Interleukin-8, Neurodegeneration, Dendritic Cells, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, chemistry, Immunology, biology.protein, Medicine, L-selectin, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06734a548acf72e3b7bc781d7bfc4dc2Test
https://doaj.org/article/74215155912e4d13868710927fcc8a11Test -
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المصدر: Clinical Chemistry and Laboratory Medicine (CCLM). 57:e149-e151
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, biology, business.industry, Biochemistry (medical), Clinical Biochemistry, General Medicine, medicine.disease, Dysphagia, Polymyositis, Gastroenterology, 03 medical and health sciences, Elevation (emotion), 030104 developmental biology, 0302 clinical medicine, Internal medicine, biology.protein, medicine, Creatine kinase, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94bf21528f79287a9f1d1ced2ec4c28fTest
https://doi.org/10.1515/cclm-2018-0928Test -
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المؤلفون: Jessica Mandrioli, Christian Lunetta, Peter Grill, Valeria A. Sansone, Mario Sabatelli, Nikolay Solovyev, Marco Vinceti, Bernhard Michalke, Federica Violi, Amelia Conte
المصدر: Neurodegener. Dis. 17, 171-180 (2017)
مصطلحات موضوعية: Male, 0301 basic medicine, TUBA4A mutation, SOD1, Physiology, chemistry.chemical_element, Environment, Biology, Gene mutation, medicine.disease_cause, TARDBP, Amyotrophic lateral sclerosis, Cerebrospinal fluid, Gene mutations, Genetics, Selenium, Selenium species, 03 medical and health sciences, Superoxide Dismutase-1, 0302 clinical medicine, Tubulin, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Child, Ataxin-2, Amyotrophic Lateral Sclerosis, Cerebrospinal Fluid, Gene Mutations, Selenium Species, Tuba4a Mutation, Mutation, C9orf72 Protein, Female, Middle Aged, RNA-Binding Protein FUS, Environmental exposure, Neurology, Neurology (clinical), medicine.disease, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, chemistry, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef2343cb707832cb0102c5cb4199bd0Test
https://doi.org/10.1159/000460253Test -
7Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up
المؤلفون: Werner Poewe, Sandrina Weber, Andres O. Ceballos-Baumann, Roberto Colombo, Michael Messner, Juliane Winkelmann, Joerg Mueller, Barbara Schormair, Christian Lunetta, Bernhard Haslinger, Sylvia Boesch, Tim M. Strom, Thomas Wieland, Tobias Meindl, Angela Jochim, Michael Zech, Valeria A. Sansone
المصدر: Movement Disorders. 32:549-559
مصطلحات موضوعية: 0301 basic medicine, Dystonia, Genetics, ADCY5, Cosegregation, Genetic heterogeneity, Biology, medicine.disease, Phenotype, Genetic architecture, nervous system diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Locus heterogeneity, medicine, Neurology (clinical), 030217 neurology & neurosurgery, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0761a2dc3f365ce9475ff0ca8cc7dc2bTest
https://doi.org/10.1002/mds.26808Test -
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المؤلفون: Matthew R. Avenarius, Jennifer S Roggenbuck, Abdurrahman W. Muhtaseb, Flávia C. Nery, Pamela J. Snyder, John T. Kissel, Kathryn J. Swoboda, Pann H. Nwe, Vicki L. McGovern, Thomas W. Prior, Arthur H.M. Burghes, Ren Z Zhang, Jennifer J. Siranosian, Alec J. Johnstone, Valeria A. Sansone, Corey Ruhno
مصطلحات موضوعية: Candidate gene, Genetic Linkage, Gene Dosage, Inheritance Patterns, SMN1, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Gene Frequency, Genetics, medicine, Humans, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, Base Sequence, 030305 genetics & heredity, Intron, Computational Biology, High-Throughput Nucleotide Sequencing, Spinal muscular atrophy, medicine.disease, SMA, Molecular biology, Survival of Motor Neuron 1 Protein, nervous system diseases, Pedigree, Survival of Motor Neuron 2 Protein, Phenotype, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3257448dc926ad825225c043d2c0793Test
https://europepmc.org/articles/PMC6503527Test/ -
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المؤلفون: Gabriele Mora, Christian Lunetta, Stanley H. Appel, Valeria A. Sansone, Robert G. Miller, Adriano Chiò, Andrea Lizio, Eleonora Maestri
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Population, Placebo, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Internal medicine, Post-hoc analysis, medicine, Humans, Immunologic Factors, Registries, Amyotrophic lateral sclerosis, education, Original Investigation, Aged, education.field_of_study, Amyotrophic Lateral Sclerosis, Biomarkers, C-Reactive Protein, Female, Follow-Up Studies, Middle Aged, Disease Progression, Neurology (clinical), biology, business.industry, Hazard ratio, C-reactive protein, medicine.disease, Surgery, 030104 developmental biology, Cohort, biology.protein, Biomarker (medicine), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75b0a4f16c49b6bf538bb6e2c0b94d15Test
http://hdl.handle.net/2318/1673187Test -
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المؤلفون: Valeria A. Sansone, Jennifer Roggenbuck, P. Snyder, John T. Kissel, C. Ruhno, T. Prior, Vicki L. McGovern, A. H. M. Burghes
المصدر: Neuromuscular Disorders. 27:S136-S137
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, medicine, Identification (biology), Neurology (clinical), Spinal muscular atrophy, Biology, medicine.disease, Affect (psychology), Bioinformatics, Phenotype, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d48dd1bc9d8c97e22d8eef29b2847eb1Test
https://doi.org/10.1016/j.nmd.2017.06.163Test