يعرض 1 - 10 نتائج من 10 نتيجة بحث عن '"Alice, Zanolini"', وقت الاستعلام: 0.91s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

    المؤلفون: Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu, Silvia Bonanno, Vincenzo Nigro, Cristina Peduto, Paola D’Ambrosio, Roberta Zeuli, Mariateresa Zanobio, Esther Picillo, Serenella Servidei, Guido Primiano, Cristina Sancricca, Monica Sciacco, Roberta Brusa, Massimiliano Filosto, Stefano Cotti Piccinelli, Elena Pegoraro, Tiziana Mongini, Luca Solero, Giulio Gadaleta, Chiara Brusa, Carlo Minetti, Claudio Bruno, Chiara Panicucci, Valeria A. Sansone, Christian Lunetta, Alice Zanolini, Antonio Toscano, Alessia Pugliese, Giulia Nicocia, Enrico Bertini, Michela Catteruccia, Daria Diodato, Antonio Atalaia, Teresinha Evangelista, Gabriele Siciliano, Alessandra Ferlini

    المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)

    مصطلحات موضوعية: Telemedicine, CPMS, ERN, Rare diseases, Digital health, Medicine

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1750-1172

    URL الوصول: https://doaj.org/article/a63c0e0266e34366b30660e184a94201

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  2. 2
    دورية أكاديمية
    Balance impairment in myotonic dystrophy type 1: Dynamic posturography suggests the coexistence of a proprioceptive and vestibular deficit

    المؤلفون: Stefano Scarano, Valeria Ada Sansone, Carola Rita Ferrari Aggradi, Elena Carraro, Luigi Tesio, Maurizio Amadei, Viviana Rota, Alice Zanolini, Antonio Caronni

    المصدر: Frontiers in Human Neuroscience, Vol 16 (2022)

    مصطلحات موضوعية: myotonic dystrophy, balance, posturography, falls, neurological rehabilitation, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/articles/10.3389/fnhum.2022.925299/full; https://doaj.org/toc/1662-5161

    URL الوصول: https://doaj.org/article/8c39dd2b2480456391dc110164e098e6

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  3. 3
    دورية أكاديمية
    Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center

    المؤلفون: Carola R. Ferrari Aggradi, Elisa Falcier, Andrea Lizio, Alice Pirola, Jacopo Casiraghi, Alice Zanolini, Elena Carraro, Luca Mauro, Fabrizio Rao, Elisabetta Roma, Antonino Iannello, Elisa De Mattia, Andrea Barp, Sara Lupone, Valentina Gatti, Cristina Italiano, Valeria A. Sansone

    المصدر: Canadian Respiratory Journal, Vol 2022 (2022)

    مصطلحات موضوعية: Diseases of the respiratory system, RC705-779

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1916-7245

    URL الوصول: https://doaj.org/article/56421ed8ed714a8bb9544d6df5ff85ca

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  4. 4
    دورية أكاديمية
    Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

    المؤلفون: Alice Zanolini, Ana Potic, Franco Carrara, Eleonora Lamantea, Daria Diodato, Flavia Blasevich, Silvia Marchet, Marina Mora, Francesco Pallotti, Lucia Morandi, Massimo Zeviani, Costanza Lamperti

    المصدر: Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 24-27 (2017)

    مصطلحات موضوعية: ND2, Exercise intolerance, Complex I deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2214426916301045; https://doaj.org/toc/2214-4269

    URL الوصول: https://doaj.org/article/b039e080b6144545bd061ad08e081066

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  5. 5
    Body composition and myokines in a cohort of patients with Becker muscular dystrophy

    المؤلفون: Andrea Barp, Elena Carraro, Giovanni Goggi, Andrea Lizio, Alice Zanolini, Carmelo Messina, Silvia Perego, Chiara Verdelli, Giovanni Lombardi, Valeria Ada Sansone, Sabrina Corbetta

    المصدر: Muscle & Nerve. 66:63-70

    مصطلحات موضوعية: DXA, Duchenne muscular dystrophy, Irisin, Physiology, Fibronectins, Settore MED/13 - Endocrinologia, Muscular Dystrophy, Duchenne, Becker muscular dystrophy, bone mineral density, Cellular and Molecular Neuroscience, Absorptiometry, Photon, Settore MED/36 - Diagnostica per Immagini e Radioterapia, Bone Density, Physiology (medical), Body Composition, Humans, Settore MED/26 - Neurologia, Neurology (clinical), Muscle, Skeletal

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fabc854b62bf040594ce1b8a2987f97e
    https://doi.org/10.1002/mus.27565

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  6. 6
    Assessment of respiratory function and need for non-invasive ventilation in a cohort of patients with myotonic dystrophy type 1 followed at one single expert centre

    المؤلفون: Carola R, Ferrari Aggradi, Elisa, Falcier, Andrea, Lizio, Alice, Pirola, Jacopo, Casiraghi, Alice, Zanolini, Elena, Carraro, Luca, Mauro, Fabrizio, Rao, Elisabetta, Roma, Antonino, Iannello, Elisa, De Mattia, Andrea, Barp, Sara, Lupone, Valentina, Gatti, Cristina, Italiano, Valeria A, Sansone

    المصدر: The clinical respiratory journalREFERENCES.

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7d60f187fe75ea1e1c96b5251a2fbfa8
    https://pubmed.ncbi.nlm.nih.gov/35760069

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  7. 7
    Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

    المؤلفون: Marina Mora, Eleonora Lamantea, Francesco Pallotti, Costanza Lamperti, Massimo Zeviani, Alice Zanolini, Ana Potic, Flavia Blasevich, Lucia Morandi, Silvia Marchet, Daria Diodato, Franco Carrara

    المصدر: Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 24-27 (2017)
    Molecular Genetics and Metabolism Reports

    مصطلحات موضوعية: 0301 basic medicine, Proband, Muscle tissue, Complex I deficiency, Exercise intolerance, ND2, Molecular Biology, Genetics, Endocrinology, Mitochondrial DNA, Pathology, medicine.medical_specialty, Case Report, 030105 genetics & heredity, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Myopathy, lcsh:QH301-705.5, lcsh:R5-920, Mutation, Muscle biopsy, medicine.diagnostic_test, Heteroplasmy, 3. Good health, medicine.anatomical_structure, lcsh:Biology (General), medicine.symptom, lcsh:Medicine (General), 030217 neurology & neurosurgery

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fc20a874010320fd7c6f27514d2df90
    https://doi.org/10.1016/j.ymgmr.2016.11.009

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  8. 8
    RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

    المؤلفون: Sara Bonato, Maurizio Moggio, Alice Zanolini, Alessia Nasca, Daniele Ghezzi, Mingyan Fang, Aurelio Reyes, Laura Melchionda, Gigliola Fagiolari, Eleonora Lamantea, Dario Ronchi, Jianguo Zhang, Massimo Zeviani, Franco Carrara, Costanza Lamperti

    المساهمون: Reyes Tellez, Aurelio [0000-0003-2876-2202], Apollo - University of Cambridge Repository

    مصطلحات موضوعية: Mitochondrial encephalomyopathy, Male, Ophthalmoplegia, Chronic Progressive External, Mitochondrion, 0302 clinical medicine, Genetics(clinical), Southern, Genetics (clinical), Genetics, 0303 health sciences, Ophthalmoplegia, biology, Blotting, High-Throughput Nucleotide Sequencing, Middle Aged, Mitochondrial, 3. Good health, Pedigree, Blotting, Southern, Mitochondrial respiratory chain, Female, Western, Adult, DNA Replication, Mitochondrial DNA, RNase P, Mitochondrial disease, Blotting, Western, Molecular Sequence Data, Ribonuclease H, DNA, Mitochondrial, 03 medical and health sciences, Mitochondrial Encephalomyopathies, Report, medicine, Humans, Amino Acid Sequence, RNase H, Base Sequence, Mutation, RNA, 030304 developmental biology, DNA, medicine.disease, Molecular biology, Chronic Progressive External, biology.protein, Chronic progressive external ophthalmoplegia, 030217 neurology & neurosurgery

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00c263c7099fd325a73a1c4973bc7002
    https://www.repository.cam.ac.uk/handle/1810/293427

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  9. 9
    A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy

    المؤلفون: Costanza Lamperti, Alessia Nasca, Filippo Cendron, Lucia Celotti, Alice Zanolini, Pio D'Adamo, Massimo Zeviani, Daniele Ghezzi, Leonardo Bee, Rodolfo Costa

    المساهمون: Bee, Leonardo, Nasca, Alessia, Zanolini, Alice, Cendron, Filippo, D'Adamo, ADAMO PIO, Costa, Rodolfo, Lamperti, Costanza, Celotti, Lucia, Ghezzi, Daniele, Zeviani, Massimo

    المصدر: EMBO Molecular Medicine

    مصطلحات موضوعية: Adult, medicine.medical_specialty, DNA repair, DNA damage, Nonsense mutation, Cardiomyopathy, Biology, Malignancy, Mice, Encephalocardiomyopathy, Internal medicine, medicine, Animals, Humans, NHEJ, XRCC4, Molecular Medicine, Research Articles, Genetic Association Studies, Immunodeficiency, Mice, Knockout, Genetics, Brain Diseases, Gene Expression Profiling, Homozygote, Fibroblasts, DNA repair protein XRCC4, medicine.disease, 3. Good health, DNA-Binding Proteins, Endocrinology, Codon, Nonsense, Mutant Proteins, Cardiomyopathies, Primordial dwarfism

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db2c5122a5b190a4259938a5ae1e2a1
    http://hdl.handle.net/11577/3155555

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  10. 10
    A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

    المؤلفون: Orly Elpeleg, Daniele Ghezzi, Bassam Y. Abu Libdeh, Nadirah Damseh, Alessia Nasca, Alice Zanolini, Laura Melchionda

    المصدر: Frontiers in Genetics
    Frontiers in Genetics, Vol 5 (2014)

    مصطلحات موضوعية: bilateral basal ganglia lesions, Pathology, medicine.medical_specialty, Mitochondrial DNA, lcsh:QH426-470, Lentiform nucleus, BCS1L, Mitochondrial disease, Biology, Frameshift mutation, encephalomyopathy, medicine, Genetics, Original Research Article, novel mutations, Cerebellar hypoplasia, Genetics (clinical), complex III deficiency, mitochondrial diseases, Cerebellar ataxia, medicine.disease, Phenotype, lcsh:Genetics, TTC19, Molecular Medicine, lipids (amino acids, peptides, and proteins), medicine.symptom, novel mutation

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffad593556dc744dddc20bd765bc8cb4

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