نتائج البحث - "Valeria A Sansone"

1

RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing

المصدر: HGG Advances, Vol 3, Iss 1, Pp 100054-(2022)
Human Genetics and Genomics Advances

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e477b56a8959acf282748c98930674aTest
http://www.sciencedirect.com/science/article/pii/S266624772100035XTest

2

The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment

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

3

Guidelines on clinical presentation and management of nondystrophic myotonias

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, 430-444

مصطلحات 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

4

Inflammatory role of dendritic cells in Amyotrophic Lateral Sclerosis revealed by an analysis of patients’ peripheral blood

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 Reports

مصطلحات 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

5

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

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/

6

Serum C-reactive protein as a prognostic biomarker in amyotrophic lateral sclerosis

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

7

Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

المؤلفون: Valeria A. Sansone, Eleonora Corti, Marzia Lecchi, Francesca Magri, Domenica Saccomanno, Stefania Corti, Monika Raimondi, Giacomo P. Comi, Enzo Wanke, Giovanni Meola, Grazia D'Angelo, Elisa Redaelli, Sabrina Lucchiari, Anna Modoni, Gianna Ulzi, Serena Pagliarani, Nereo Bresolin

المساهمون: Ulzi, G, Lecchi, M, Sansone, V, Redaelli, E, Corti, E, Saccomanno, D, Pagliarani, S, Corti, S, Magri, F, Raimondi, M, D'Angelo, G, Modoni, A, Bresolin, N, Meola, G, Wanke, E, Comi, G, Lucchiari, S

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694d5e2eb0c92a0d15a0920cb68d6a8bTest
http://hdl.handle.net/10281/32847Test

8

Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies

المؤلفون: Rosanna Cardani, E. Mancinelli, Giovanni Meola, M. Giagnacovo, Valeria A. Sansone

المصدر: European Journal of Histochemistry, Vol 53, Iss 2, Pp e13-e13 (2009)
Europe PubMed Central
European Journal of Histochemistry : EJH
European Journal of Histochemistry, Vol 53, Iss 2, Pp 107-112 (2009)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Histology, Somatic cell, Biopsy, Biophysics, ribonuclear inclusions, In situ hybridization, Biology, Specimen Handling, Technical Report, Freezing, medicine, Humans, Myotonic Dystrophy, RNA, Messenger, Muscle, Skeletal, myotonic dystrophy type 2, lcsh:QH301-705.5, In Situ Hybridization, Fluorescence, Cell Nucleus, Cryopreservation, DNA Repeat Expansion, Muscle biopsy, medicine.diagnostic_test, RNA-Binding Proteins, Skeletal muscle, Cell Biology, Muscle Fibers, Slow-Twitch, medicine.anatomical_structure, lcsh:Biology (General), Muscle Fibers, Fast-Twitch, Biomarker (medicine), fluorescence, in situ hybridization, Trinucleotide repeat expansion, Biomarkers, defrozen muscle biopsy, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2471700de967b09ef31c91e8a907f412Test
http://www.ejh.it/index.php/ejh/article/view/1239Test

9

Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies

المؤلفون: Valeria A. Sansone, E. Mancinelli, G. Rotondo, Giovanni Meola

المصدر: European Journal of Histochemistry, Vol 47, Iss 1 (2009)
Europe PubMed Central

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Histology, Biopsy, Biophysics, Muscle histopathology, Settore BIO/09 - Fisiologia, Ion Channels, Hypokalemic periodic paralysis, medicine, Humans, Point Mutation, Hyperkalemic periodic paralysis, Muscle, Skeletal, lcsh:QH301-705.5, Cells, Cultured, Aged, Potassium-aggravated myotonia, CLCN1, biology, Histocytochemistry, business.industry, Myotonia congenita, Muscle histochemistry, Skeletal muscle, Periodic paralysis, Cell Biology, Middle Aged, medicine.disease, Cell cultures, Hereditary channelopathies, Muscle biopsy, Voltage-gated ion channels, medicine.anatomical_structure, lcsh:Biology (General), Potassium Channels, Voltage-Gated, Paramyotonia congenita, biology.protein, Female, Settore MED/26 - Neurologia, business, Ion Channel Gating, Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00889c6c1554a49c477543f98c499d19Test
https://www.ejh.it/index.php/ejh/article/view/803Test

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