Hasil Pencarian - Alessandra Ferlini

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  1. 1
    Non-Coding RNAs in Muscle Dystrophies

    Non-Coding RNAs in Muscle Dystrophies oleh Alessandra Ferlini, Giovanni Perini, Daniela Erriquez

    Diterbitkan 2013-09-01
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  2. 2
    Duchenne Muscular Dystrophy: From Diagnosis to Therapy

    Duchenne Muscular Dystrophy: From Diagnosis to Therapy oleh Maria Sofia Falzarano, Chiara Scotton, Chiara Passarelli, Alessandra Ferlini

    Diterbitkan 2015-10-01
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  3. 3
    DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis

    DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis oleh Fernanda Fortunato, Laura Tonelli, Marianna Farnè, Rita Selvatici, Alessandra Ferlini

    Diterbitkan 2024-01-01
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  4. 4
    Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease

    Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease oleh Valentina Sardone, Haiyan Zhou, Francesco Muntoni, Alessandra Ferlini, Maria Sofia Falzarano

    Diterbitkan 2017-04-01
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  5. 5
    Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project

    Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project oleh Alessandra Ferlini, Edith Sky Gross, Nicolas Garnier, on behalf of the Screen4Care consortium

    Diterbitkan 2023-10-01
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  6. 6
    Novel approach to meta-analysis of microarray datasets reveals muscle remodeling-related drug targets and biomarkers in Duchenne muscular dystrophy.

    Novel approach to meta-analysis of microarray datasets reveals muscle remodeling-related drug targets and biomarkers in Duchenne muscular dystrophy. oleh Ekaterina Kotelnikova, Maria A Shkrob, Mikhail A Pyatnitskiy, Alessandra Ferlini, Nikolai Daraselia

    Diterbitkan 2012-02-01
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  7. 7
    The Popeye Domain Containing Genes and Their Function in Striated Muscle

    The Popeye Domain Containing Genes and Their Function in Striated Muscle oleh Roland F. R. Schindler, Chiara Scotton, Vanessa French, Alessandra Ferlini, Thomas Brand

    Diterbitkan 2016-06-01
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  8. 8
    Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy.

    Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy. oleh Rachele Rossi, Mingyan Fang, Lin Zhu, Chongyi Jiang, Cong Yu, Cristina Flesia, Chao Nie, Wenyan Li, Alessandra Ferlini

    Diterbitkan 2022-01-01
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  9. 9
    mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies

    mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies oleh Maria Sofia Falzarano, Martina Mietto, Fernanda Fortunato, Marianna Farnè, Fernanda Martini, Pierpaolo Ala, Rita Selvatici, Francesco Muntoni, Alessandra Ferlini

    Diterbitkan 2023-09-01
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  10. 10
    Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases

    Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases oleh Maria Sofia Falzarano, Rachele Rossi, Rachele Rossi, Andrea Grilli, Mingyan Fang, Hana Osman, Hana Osman, Patrizia Sabatelli, Patrizia Sabatelli, Manuela Antoniel, Manuela Antoniel, Zhiyuan Lu, Wenyan Li, Rita Selvatici, Cristina Al-Khalili, Francesca Gualandi, Silvio Bicciato, Silvia Torelli, Silvia Torelli, Alessandra Ferlini, Alessandra Ferlini

    Diterbitkan 2021-10-01
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  11. 11
    Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.

    Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study. oleh Borut Peterlin, Francesca Gualandi, Ales Maver, Serenella Servidei, Silvère M van der Maarel, Francoise Lamy, Alexander Mejat, Teresinha Evangelista, Alessandra Ferlini

    Diterbitkan 2020-01-01
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  12. 12
    Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

    Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study oleh Borut Peterlin, Francesca Gualandi, Ales Maver, Serenella Servidei, Silvère M. van der Maarel, Francoise Lamy, Alexander Mejat, Teresinha Evangelista, Alessandra Ferlini, Alfred S Lewin

    Diterbitkan 2020-01-01
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  13. 13
    Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

    Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy p... oleh Daniele Capitanio, Manuela Moriggi, Enrica Torretta, Pietro Barbacini, Sara De Palma, Agnese Viganò, Hanns Lochmüller, Francesco Muntoni, Alessandra Ferlini, Marina Mora, Cecilia Gelfi

    Diterbitkan 2020-04-01
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  14. 14
    A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring

    A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring oleh Rachele Rossi, Camilla Johansson, Wendy Heywood, Heloise Vinette, Gabriella Jensen, Hanna Tegel, Albert Jiménez-Requena, Silvia Torelli, Cristina Al-Khalili Szigyarto, Alessandra Ferlini

    Diterbitkan 2023-03-01
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  15. 15
    Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients

    Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients oleh Rachele Rossi, Rachele Rossi, Maria Sofia Falzarano, Hana Osman, Hana Osman, Annarita Armaroli, Chiara Scotton, Paola Mantuano, Brigida Boccanegra, Ornella Cappellari, Elena Schwartz, Anton Yuryev, Eugenio Mercuri, Enrico Bertini, Adele D’Amico, Marina Mora, Camilla Johansson, Cristina Al-Khalili Szigyarto, Cristina Al-Khalili Szigyarto, Annamaria De Luca, Alessandra Ferlini, Alessandra Ferlini

    Diterbitkan 2021-07-01
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  16. 16
    Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

    Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family oleh Stefania Bigoni, Marcella Neri, Chiara Scotton, Roberto Farina, Patrizia Sabatelli, Chongyi Jiang, Jianguo Zhang, Maria Sofia Falzarano, Rachele Rossi, Davide Ognibene, Rita Selvatici, Francesca Gualandi, Dieter Bosshardt, Paolo Perri, Claudio Campa, Francesco Brancati, Francesco Brancati, Marco Salvatore, Maria Chiara De Stefano, Domenica Taruscio, Leonardo Trombelli, Mingyan Fang, Mingyan Fang, Alessandra Ferlini, Alessandra Ferlini

    Diterbitkan 2019-01-01
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  17. 17
    Newborn Screening by Genomic Sequencing: Opportunities and Challenges

    Newborn Screening by Genomic Sequencing: Opportunities and Challenges oleh David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Dalia Kasperaviciute, Mathilde Leblond, Amanda Pichini, Augusto Rendon, Aditi Satija, Alice Tuff-Lacey, Richard H. Scott

    Diterbitkan 2022-07-01
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  18. 18
    Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene

    Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene oleh Cristina Balla, Martina De Raffele, Maria Angela Deserio, Mariabeatrice Sanchini, Marianna Farnè, Cecilia Trabanelli, Luca Ragni, Mauro Biffi, Alessandra Ferlini, Claudio Rapezzi, Francesca Gualandi, Matteo Bertini

    Diterbitkan 2021-09-01
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  19. 19
    The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.

    The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms. oleh Matteo Bovolenta, Daniela Erriquez, Emanuele Valli, Simona Brioschi, Chiara Scotton, Marcella Neri, Maria Sofia Falzarano, Samuele Gherardi, Marina Fabris, Paola Rimessi, Francesca Gualandi, Giovanni Perini, Alessandra Ferlini

    Diterbitkan 2012-01-01
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  20. 20
    Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy.

    Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. oleh Irina T Zaharieva, Mattia Calissano, Mariacristina Scoto, Mark Preston, Sebahattin Cirak, Lucy Feng, James Collins, Ryszard Kole, Michela Guglieri, Volker Straub, Kate Bushby, Alessandra Ferlini, Jennifer E Morgan, Francesco Muntoni

    Diterbitkan 2013-01-01
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