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1. Full Text Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects
by Diegoli, Marta, PhD and Grasso, Maurizia, PhD and Favalli, Valentina, BME and Serio, Alessandra, MD and Gambarin, Fabiana Isabella, MD and Klersy, Catherine, MD and Pasotti, Michele, MD and Agozzino, Emanuela, MD and Scelsi, Laura, MD and Ferlini, Alessandra, MD, PhD and Febo, Oreste, MD and Piccolo, Giovanni, MD and Tavazzi, Luigi, MD and Narula, Jagat, MD, PhD and Arbustini, Eloisa, MD
Journal of the American College of Cardiology, ISSN 0735-1097, 2011, Volume 58, Issue 9, pp. 925 - 934
Cardiovascular | Internal Medicine | congestive heart failure | X-linked dilated cardiomyopathy | dystrophin | serum creatine phosphokinase | heart transplantation | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Cardiology. Vascular system | Heart | Biological and medical sciences | Myocarditis. Cardiomyopathies | Medical sciences | Cardiomyopathy, Dilated - genetics | Follow-Up Studies | Genes, X-Linked - genetics | Humans | Middle Aged | Male | Mutation - genetics | Young Adult | Dystrophin - genetics | Adolescent | Adult | Cardiomyopathy, Dilated - diagnosis | Genome-Wide Association Study - methods | Heart failure | Prosthesis | Creatine kinase | Transplantation | Creatine | Tachycardia | Implants, Artificial | Utrophin | DNA | Diagnosis | Cardiology | Dystrophin | Epidemiology | Confidence intervals | Heart attacks | Genetic counseling | Cardiomyopathy | Families & family life | Mutation | Genetic testing | Age | Deoxyribonucleic acid--DNA | Defects | Arrhythmia | X chromosome | Gene deletion | Genetic screening | Risk factors | Polymerase chain reaction | Defibrillators | Dilated cardiomyopathy | Biopsy | Syncope | Point mutation | Evolution | gene rearrangement | Cardiovascular diseases | Heart diseases | Probes | Index Medicus | Abridged Index Medicus
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2. Full Text Duchenne muscular dystrophy: From diagnosis to therapy
by Falzarano, Maria Sofia and Scotton, Chiara and Passarelli, Chiara and Ferlini, Alessandra
Molecules (Basel, Switzerland), ISSN 1420-3049, 10/2015, Volume 20, Issue 10, pp. 18168 - 18184
Antisense delivery | Molecular diagnosis | Antisense Oligonucleotides | DMD therapy | Dystrophin | Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Genetic Therapy | Muscular Dystrophy, Duchenne - drug therapy | Humans | Muscular Dystrophy, Duchenne - pathology | Sequence Analysis, DNA | Molecular Diagnostic Techniques | Animals | Comparative Genomic Hybridization | Dystrophin - genetics | Oligonucleotides, Antisense - therapeutic use | Muscular Dystrophy, Duchenne - genetics | Mutation | High-Throughput Nucleotide Sequencing - methods | Muscular Dystrophy, Duchenne - diagnosis | Index Medicus | dystrophin | antisense delivery | molecular diagnosis
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3. Full Text Neuromuscular disease: Muscular dystrophy-something new on God's green earth?
by Ferlini, Alessandra
Nature reviews. Neurology, ISSN 1759-4758, 05/2012, Volume 8, Issue 5, pp. 247 - 249
Neonatal Screening - economics | Humans | Muscular Dystrophies - diagnosis | Neonatal Screening - methods | Genetic Testing - economics | Muscular Dystrophies - genetics | Genetic Testing - methods | Infant, Newborn | Index Medicus
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4. Full Text DNA and ability to reproduce: the ‘Secret’ of evolution
by Ferlini, Alessandra
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2012, Volume 20, Issue 2, pp. 244 - 245
Book Review
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5. Full Text RNA-targeted drugs for neuromuscular diseases
by Ferlini, Alessandra and Goyenvalle, Aurelie and Muntoni, Francesco
Science (American Association for the Advancement of Science), ISSN 0036-8075, 01/2021, Volume 371, Issue 6524, pp. 29 - 31
Drugs | Motor neurons | Neuromuscular diseases | Mental disorders | Peripheral nerves | Muscles | Viruses | Ribonucleic acid--RNA | Drug development | Skeletal muscle | Musculoskeletal system | Nerves | Neuromuscular junctions | Gene therapy | Index Medicus
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6. Full Text Dystrophin and mutations: one gene, several proteins, multiple phenotypes
by Muntoni, Francesco and Torelli, Silvia and Ferlini, Alessandra
Lancet neurology, ISSN 1474-4422, 2003, Volume 2, Issue 12, pp. 731 - 740
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Phenotype | Animals | Dystrophin - genetics | Protein Isoforms - chemistry | Humans | Dystrophin - chemistry | Mutation | Muscular Dystrophies - genetics | Protein Isoforms - genetics | Genetic aspects | Gene expression | Dystrophin | Utrophin | Cardiac patients | Index Medicus
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7. Full Text Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
by Micale, Lucia and Augello, Bartolomeo and Maffeo, Claudia and Selicorni, Angelo and Zucchetti, Federica and Fusco, Carmela and De Nittis, Pasquelena and Pellico, Maria Teresa and Mandriani, Barbara and Fischetto, Rita and Boccone, Loredana and Silengo, Margherita and Biamino, Elisa and Perria, Chiara and Sotgiu, Stefano and Serra, Gigliola and Lapi, Elisabetta and Neri, Marcella and Ferlini, Alessandra and Cavaliere, Maria Luigia and Chiurazzi, Pietro and Monica, Matteo Della and Scarano, Gioacchino and Faravelli, Francesca and Ferrari, Paola and Mazzanti, Laura and Pilotta, Alba and Patricelli, Maria Grazia and Bedeschi, Maria Francesca and Benedicenti, Francesco and Prontera, Paolo and Toschi, Benedetta and Salviati, Leonardo and Melis, Daniela and Di Battista, Eliana and Vancini, Alessandra and Garavelli, Livia and Zelante, Leopoldo and Merla, Giuseppe
Human mutation, ISSN 1059-7794, 07/2014, Volume 35, Issue 7, pp. 841 - 850
KMT2D | Kabuki syndrome | haploinsufficiency | readthrough | KDM6A | Readthrough | Haploinsufficiency | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Face - abnormalities | Humans | Hematologic Diseases - drug therapy | Abnormalities, Multiple - drug therapy | Neoplasm Proteins - metabolism | Histone Demethylases - genetics | DNA-Binding Proteins - metabolism | DNA Mutational Analysis | Gentamicins - pharmacology | Transcription, Genetic | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Cell Line | Gene Expression | RNA Splice Sites | Genetic Association Studies | Gentamicins - therapeutic use | Codon, Nonsense - drug effects | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | Gene Expression Regulation - drug effects | Nonsense Mediated mRNA Decay | Hematologic Diseases - genetics | Vestibular Diseases - drug therapy | Mutation | Vestibular Diseases - genetics | Cohort Studies | Proteins | Care and treatment | Genetic disorders | RNA | Analysis | Skin care products | Physiological aspects | Mental illness | Congenital diseases | Genes | Index Medicus
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8. Full Text Muscular dystrophy-something new on God's green earth?
by Ferlini, Alessandra
Nature reviews. Neurology, ISSN 1759-4758, 05/2012, Volume 8, Issue 5, pp. 247 - 249
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Care and treatment | Utrophin | Physiological aspects | Genetic aspects | Research | Dystrophin | Muscular dystrophy | Risk factors
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9. Full Text Antisense oligonucleotide-based therapy for neuromuscular disease
by Sardone, Valentina and Zhou, Haiyan and Muntoni, Francesco and Ferlini, Alessandra and Falzarano, Maria Sofia
Molecules (Basel, Switzerland), ISSN 1420-3049, 04/2017, Volume 22, Issue 4, p. 563
Clinical trials | Antisense oligonucleotides | Oligonucleotides delivery | Duchenne muscular dystrophy | Spinal muscular atrophy | Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Gene Transfer Techniques | Humans | RNA, Messenger - genetics | Oligonucleotides, Antisense - chemistry | Oligonucleotides, Antisense - metabolism | Clinical Trials as Topic | Neuromuscular Diseases - genetics | Neuromuscular Diseases - therapy | Muscular Atrophy, Spinal - genetics | RNA Splicing | Animals | Biological Transport | Muscular Atrophy, Spinal - therapy | Oligonucleotides, Antisense - therapeutic use | Muscular Dystrophy, Duchenne - genetics | Neuromuscular Diseases - diagnosis | Drug Evaluation, Preclinical | Muscular Dystrophy, Duchenne - therapy | Cell-Penetrating Peptides - metabolism | Genetic Therapy - methods | Mental disorders | Toxicity | Delivery systems | Oligonucleotides | mRNA | Muscular dystrophy | Regulatory approval | Atrophy | Proteins | Duchenne's muscular dystrophy | Chemical properties | Medical research | Neuromuscular diseases | Splicing | Muscles | Pharmacology | Nucleic acids | Gene expression | Chemical compounds | Current carriers | Organic chemistry | Molecular modelling | Protein expression | Dystrophy | Neuromuscular system | Index Medicus | clinical trials | Duchenne Muscular Dystrophy | Spinal Muscular Atrophy | oligonucleotides delivery | antisense oligonucleotides
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10. Full Text Melanocytes—A novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy
by Pellegrini, Camilla and Zulian, Alessandra and Gualandi, Francesca and Manzati, Elisa and Merlini, Luciano and Michelini, Maria E and Benassi, Luisa and Marmiroli, Sandra and Ferlini, Alessandra and Sabatelli, Patrizia and Bernardi, Paolo and Maraldi, Nadir M
Journal of cellular physiology, ISSN 0021-9541, 06/2013, Volume 228, Issue 6, pp. 1323 - 1331
Physiology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Immunohistochemistry | Utrophin - metabolism | Skin - metabolism | Humans | Melanocytes - metabolism | Rhodamines - metabolism | Mitochondria - ultrastructure | Case-Control Studies | Myoblasts - metabolism | Oligomycins - pharmacology | Time Factors | Melanocytes - drug effects | Membrane Potential, Mitochondrial | Dystrophin - metabolism | Mitochondrial Proton-Translocating ATPases - antagonists & inhibitors | Cells, Cultured | Enzyme Inhibitors - pharmacology | Gene Expression Regulation | Melanocytes - ultrastructure | Muscular Dystrophy, Duchenne - pathology | Mitochondria - metabolism | Mitochondria - drug effects | Blotting, Western | Mitochondrial Proton-Translocating ATPases - metabolism | Blotting, Northern | Dystrophin - genetics | Biopsy | Keratinocytes - metabolism | Skin - ultrastructure | Muscular Dystrophy, Duchenne - metabolism | Muscular Dystrophy, Duchenne - genetics | Skin - drug effects | RNA | Duchenne muscular dystrophy | Utrophin | Skin | Mitochondrial DNA | Dystrophin | Cells | Index Medicus | Original s
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