المؤلفون: Das L., Azmoon P., Banki M. A., Mantuano E., Gonias S. L.

المساهمون: Das, L., Azmoon, P., Banki, M. A., Mantuano, E., Gonias, S. L.

مصطلحات موضوعية: Animal, Cell Differentiation, Cytokine, Human, Inflammation, Inflammation Mediator, Lipopolysaccharide, Macrophage Colony-Stimulating Factor, Macrophage, Mice, Inbred C57BL, Neutralization Test, Nod1 Signaling Adaptor Protein, Nod2 Signaling Adaptor Protein, Receptors, N-Methyl-D-Aspartate, Tissue Plasminogen Activator, Toll-Like Receptors

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31697716; info:eu-repo/semantics/altIdentifier/wos/WOS:000530393800001; volume:14; issue:11; firstpage:e0224738; journal:PLOS ONE; http://hdl.handle.net/11573/1403164Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074706382

الإتاحة: https://doi.org/10.1371/journal.pone.0224738Test
http://hdl.handle.net/11573/1403164Test

المؤلفون: Iodice A., Carecchio M., Zorzi G., Garavaglia B., Spagnoli C., Salerno G. G., Frattini D., Mencacci N. E., Invernizzi F., Veneziano L., Mantuano E., Angriman M., Fusco C.

المساهمون: Iodice, A., Carecchio, M., Zorzi, G., Garavaglia, B., Spagnoli, C., Salerno, G. G., Frattini, D., Mencacci, N. E., Invernizzi, F., Veneziano, L., Mantuano, E., Angriman, M., Fusco, C.

مصطلحات موضوعية: ADCY5, Benign hereditary chorea, Levodopa, NKX2-1-related chorea, Restless legs syndrome, Adult, Brain, Child, Preschool, Chorea, Cohort Studie, Dopamine Agent, Family Health, Female, Human, Magnetic Resonance Imaging, Male, Mutation, Pituitary Gland, Thyroid Nuclear Factor 1

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30352709; info:eu-repo/semantics/altIdentifier/wos/WOS:000462417200006; volume:41; issue:3; firstpage:250; lastpage:256; numberofpages:7; journal:BRAIN & DEVELOPMENT; http://hdl.handle.net/11577/3313758Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055095313; www.elsevier.com/locate/braindev

الإتاحة: https://doi.org/10.1016/j.braindev.2018.10.001Test
http://hdl.handle.net/11577/3313758Test

المؤلفون: Mantuano, E, Veneziano, L, Spadaro, M, Giunti, P, Guida, S, Leggio, MG, Verriello, L, Wood, N, Frontali, M., IODICE, CARLA

المساهمون: Mantuano, E, Veneziano, L, Spadaro, M, Giunti, P, Guida, S, Leggio, M, Verriello, L, Wood, N, Iodice, C, Frontali, M

مصطلحات موضوعية: Adolescent, Male, Cerebellar Ataxia, Middle Aged, Mutation, Polymorphism, Single-Stranded Conformational, Female, Human, Sequence Homology, Amino Acid, Calcium Channels, N-Type, Aged, Molecular Sequence Data, Adult, Amino Acid Sequence, DNA Mutational Analysis, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000221780600026; volume:41; issue:6; firstpage:e82; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2108/31166Test

الإتاحة: https://doi.org/10.1136/jmg.2003.015396Test
http://hdl.handle.net/2108/31166Test

المؤلفون: Guida, S, Trettel, F, Pagnutti, S, Mantuano, E, Tottene, A, Veneziano, L, Fellin, T, Spadaro, M, Stauderman, K, Williams, M, Volsen, S, Ophoff, R, Frants, R, Frontali, M, Pietrobon, D., IODICE, CARLA

المساهمون: Guida, S, Trettel, F, Pagnutti, S, Mantuano, E, Tottene, A, Veneziano, L, Fellin, T, Spadaro, M, Stauderman, K, Williams, M, Volsen, S, Ophoff, R, Frants, R, Iodice, C, Frontali, M, Pietrobon, D

مصطلحات موضوعية: Chromosome Mapping, Male, Cerebellar Ataxia, Cell Line, Chromosomes, Human, Pair 19, Transfection, Female, Protein Subunit, Protein Structure, Secondary, Calcium Channel, Patch-Clamp Technique, Calcium Channels, P-Type, Models, Molecular, Mutation, Missense, Membrane Potential, Mutagenesis, Site-Directed, Molecular Sequence Data, Amino Acid Sequence, Pedigree, Q-Type, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000166994200019; volume:68; issue:3; firstpage:759; lastpage:764; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2108/46429Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035089729; http://www.ncbi.nlm.nih.gov/pubmed/11179022Test

الإتاحة: http://hdl.handle.net/2108/46429Test
http://www.ncbi.nlm.nih.gov/pubmed/11179022Test

المؤلفون: Trettel, F, Mantuano, E, Calabresi, V, Veneziano, L, Olsen, AS, Georgescu, A, Gordon, L, Sabbadini, G, Frontali, M, IODICE, CARLA

المساهمون: Trettel, F, Mantuano, E, Calabresi, V, Veneziano, L, Olsen, A, Georgescu, A, Gordon, L, Sabbadini, G, Frontali, M, Iodice, C

مصطلحات موضوعية: Blotting, Southern, Chromosomes, Human, Pair 19, In Situ Hybridization, Fluorescence, Cloning, Molecular, Calcium Channel, Models, Genetic, Contig Mapping, Sequence Tagged Site, Cosmid, Gene Library, Expressed Sequence Tag, Genetic Markers, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000084971300006; volume:241; issue:1; firstpage:45; lastpage:50; journal:GENE; http://hdl.handle.net/2108/46407Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0033991925

الإتاحة: https://doi.org/10.1016/S0378-1119Test(99)00470-9
http://hdl.handle.net/2108/46407Test

المؤلفون: Mantuano, E, Trettel, F, Olsen, AS, Lennon, G, Frontali, M, IODICE, CARLA

المساهمون: Mantuano, E, Trettel, F, Olsen, A, Lennon, G, Frontali, M, Iodice, C

مصطلحات موضوعية: Oxidoreductases Acting on CH-NH Group Donor, Chromosome Mapping, Isoenzyme, Gene, Chromosomes, Human, Pair 19, Molecular Sequence Data, Exon, DNA, Complementary, Intron, Alternative Splicing, Settore BIO/18 - GENETICA

العلاقة: volume:215; issue:1; firstpage:153; lastpage:157; journal:GENE; http://hdl.handle.net/2108/46188Test

الإتاحة: https://doi.org/10.1016/S0378-1119Test(98)00254-6
http://hdl.handle.net/2108/46188Test

المؤلفون: Veneziano, L, Guida, S, Mantuano, E, Bernard, P, Tarantino, P, Boccone, L, Hisama, FM, Carrera, P, Frontali, M., IODICE, CARLA

المساهمون: Veneziano, L, Guida, S, Mantuano, E, Bernard, P, Tarantino, P, Boccone, L, Hisama, F, Carrera, P, Iodice, C, Frontali, M

مصطلحات موضوعية: Analysis of Variance, Computational Biology, Calcium Channel, Italy, Phenotype, Sequence Deletion, Neuroblastoma, Human, Cell Line, Tumor, Migraine with Aura, Molecular Sequence Data, Ataxia, DNA Mutational Analysi, Exons, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18976783; info:eu-repo/semantics/altIdentifier/wos/WOS:000263125200008; volume:276; issue:1-2; firstpage:31; lastpage:37; journal:JOURNAL OF THE NEUROLOGICAL SCIENCES; http://hdl.handle.net/2108/26753Test; info:eu-repo/semantics/altIdentifier/scopus/http://www.scopus.com/inward/record.url?eid=2-s2.0-58149144754&partnerID=40&md5=e5a03b813cfa42c97a406d4041551504Test

الإتاحة: https://doi.org/10.1016/j.jns.2008.08.030Test
http://hdl.handle.net/2108/26753Test

المؤلفون: Frontali, M, Sabbadini, G, Jodice, C, Naso, F, Spadaro, M, Giunti, P, Jacopini, AG, Veneziano, L, Mantuano, E, Ulizzi, L, Brice, A, Durr, A, NOVELLETTO, ANDREA, MALASPINA, PATRIZIA, TERRENATO, LUCIANO

المساهمون: Frontali, M, Sabbadini, G, Novelletto, A, Jodice, C, Naso, F, Spadaro, M, Giunti, P, Jacopini, A, Veneziano, L, Mantuano, E, Malaspina, P, Ulizzi, L, Brice, A, Durr, A, Terrenato, L

مصطلحات موضوعية: trinucleotide, adolescent, adult, article, ataxia, child, controlled study, gene frequency, gene linkage disequilibrium, genetic analysi, heterozygote, human, huntington chorea, priority journal, spinocerebellar degeneration, spinocerebellar tract, Age of Onset, Family Characteristic, Female, Huntington Disease, Linkage Disequilibrium, Male, Models, Genetic, Time Factor, Trinucleotide Repeat, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000187002300004; volume:60; issue:5; firstpage:423; lastpage:435; journal:ANNALS OF HUMAN GENETICS; http://hdl.handle.net/2108/48108Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0346993682

الإتاحة: https://doi.org/10.1002/humu.10288Test
http://hdl.handle.net/2108/48108Test

المؤلفون: Zanola, Annalisa, Parolini, Ornella

المساهمون: Wengler, G. S, Giliani, S, Fiorini, M, Mella, P, Mantuano, E, Zanola, Annalisa, Pollonini, G, Eibl, M. M, Ugazio, A. G, Notarangelo, L. D, Parolini, Ornella

مصطلحات موضوعية: DNA Mutational Analysi, Exon, Female, Frameshift Mutation, Genetic Testing, Human, Male, Pedigree, Point Mutation, Polymerase Chain Reaction, Prenatal Diagnosi, Receptors, Interleukin, Severe Combined Immunodeficiency, Mutation, Polymorphism, Single-Stranded Conformational, Settore BIO/13 - BIOLOGIA APPLICATA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/9633906; info:eu-repo/semantics/altIdentifier/wos/WOS:000074236100030; volume:101; issue:3; firstpage:586; lastpage:591; numberofpages:6; issueyear:1998; journal:BRITISH JOURNAL OF HAEMATOLOGY; http://hdl.handle.net/10807/92504Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-7144261736

الإتاحة: https://doi.org/10.1046/j.1365-2141.1998.00721.xTest
http://hdl.handle.net/10807/92504Test

المؤلفون: Parolini, Ornella, Albertini, Alberto

المساهمون: Notarangelo, L. D, Candotti, F, Parolini, Ornella, Mantuano, E, Giliani, S, Lanfranchi, A, Albertini, Alberto

مصطلحات موضوعية: Dosage Compensation, Genetic, Female, Genetic Linkage, Genetic Marker, Genetic Testing, Human, Pedigree, Wiskott-Aldrich Syndrome, Genetic Counseling, Heterozygote Detection, X Chromosome, Settore BIO/13 - BIOLOGIA APPLICATA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/8397823; info:eu-repo/semantics/altIdentifier/wos/WOS:A1993MA40300011; volume:12; issue:7; firstpage:645; lastpage:649; numberofpages:5; issueyear:1993; journal:DNA AND CELL BIOLOGY; http://hdl.handle.net/10807/92541Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0027452226

الإتاحة: https://doi.org/10.1089/dna.1993.12.645Test
http://hdl.handle.net/10807/92541Test