Search Results - "Ferlini, Alessandra"

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

“…Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive…”
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The DMD gene and therapeutic approaches to restore dystrophin by Fortunato, Fernanda, Farnè, Marianna, Ferlini, Alessandra

“…•We reviewed Duchenne muscular dystrophy (DMD) genetic bases, and novel personalized therapeutical options.•We underlined the high allelic heterogeneity of the…”
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EMQN best practice guidelines for genetic testing in dystrophinopathies by Fratter, Carl, Dalgleish, Raymond, Allen, Stephanie K, Santos, Rosário, Abbs, Stephen, Tuffery-Giraud, Sylvie, Ferlini, Alessandra

“…Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the…”
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Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies by Milandri, Agnese, Farioli, Andrea, Gagliardi, Christian, Longhi, Simone, Salvi, Fabrizio, Curti, Stefania, Foffi, Serena, Caponetti, Angelo Giuseppe, Lorenzini, Massimiliano, Ferlini, Alessandra, Rimessi, Paola, Mattioli, Stefano, Violante, Francesco Saverio, Rapezzi, Claudio

“…Aims We aimed to assess carpal tunnel syndrome (CTS) prevalence in transthyretin (TTR)‐related and light‐chain amyloidosis (AL), comparing it to the general…”
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Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease by Sardone, Valentina, Zhou, Haiyan, Muntoni, Francesco, Ferlini, Alessandra, Falzarano, Maria Sofia

“…Neuromuscular disorders such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy are neurodegenerative genetic diseases characterized primarily by…”
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Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy by Fortunato, Fernanda, Rossi, Rachele, Falzarano, Maria Sofia, Ferlini, Alessandra

“…Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy affecting ~1:5000 live male births. Following the identification of…”
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Dystrophin and mutations: one gene, several proteins, multiple phenotypes by Muntoni, Francesco, Torelli, Silvia, Ferlini, Alessandra

“…A large and complex gene on the X chromosome encodes dystrophin. Many mutations have been described in this gene, most of which affect the expression of the…”
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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield by Ankala, Arunkanth, da Silva, Cristina, Gualandi, Francesca, Ferlini, Alessandra, Bean, Lora J. H., Collins, Christin, Tanner, Alice K., Hegde, Madhuri R.

“…Objective Neuromuscular diseases (NMDs) are a group of >200 highly genetically as well as clinically heterogeneous inherited genetic disorders that affect the…”
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Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature by Falzarano, Maria Sofia, Ferlini, Alessandra

“…Urine specimens represent a novel and non-invasive approach to isolate patient-specific stem cells by easy and low-cost procedures, replacing the traditional…”
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Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients by Capitanio, Daniele, Moriggi, Manuela, Torretta, Enrica, Barbacini, Pietro, De Palma, Sara, Viganò, Agnese, Lochmüller, Hanns, Muntoni, Francesco, Ferlini, Alessandra, Mora, Marina, Gelfi, Cecilia

“…Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are characterized by muscle wasting leading to loss of ambulation in the first…”
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The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice by Ferlini, Alessandra, Neri, Marcella, Gualandi, Francesca

“…Abstract A large variety of mutations in the dystrophin gene cause Duchenne and Becker muscular dystrophies, diseases affecting predominantly the striated…”
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Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation by Pane, Marika, MD, Lombardo, Maria Elena, MD, Alfieri, Paolo, MD, D'Amico, Adele, MD, Bianco, Flaviana, MD, Vasco, Gessica, MD, Piccini, Giorgia, Dpsych, Mallardi, Maria, Dpsych, Romeo, Domenico M., MD, Ricotti, Valeria, MD, Ferlini, Alessandra, MD, Gualandi, Francesca, MD, Vicari, Stefano, MD, Bertini, Enrico, MD, Berardinelli, Angela, MD, Mercuri, Eugenio, MD

“…Objectives To assess attention deficit hyperactivity disorder (ADHD) in boys affected by Duchenne muscular dystrophy (DMD) and to explore the relationship with…”
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Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy by Rossi, Rachele, Fang, Mingyan, Zhu, Lin, Jiang, Chongyi, Yu, Cong, Flesia, Cristina, Nie, Chao, Li, Wenyan, Ferlini, Alessandra

“…We designed a novel strategy to define codon usage bias (CUB) in 6 specific small cohorts of human genes. We calculated codon usage (CU) values in 29…”
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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder by Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O’Connell, Mitchell R.

“…Covalent tRNA modifications play multi-faceted roles in tRNA stability, folding, and recognition, as well as the rate and fidelity of translation, and other…”
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DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis by Fortunato, Fernanda, Tonelli, Laura, Farnè, Marianna, Selvatici, Rita, Ferlini, Alessandra

“…gene pathogenic variations cause a spectrum of phenotypes, ranging from severe Duchenne muscular dystrophy, the Becker milder cases, the intermediate or very…”
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Atrial fibrillation in amyloidotic cardiomyopathy: prevalence, incidence, risk factors and prognostic role by Longhi, Simone, Quarta, Candida Cristina, Milandri, Agnese, Lorenzini, Massimiliano, Gagliardi, Christian, Manuzzi, Lisa, Bacchi-Reggiani, Maria Letizia, Leone, Ornella, Ferlini, Alessandra, Russo, Antonio, Gallelli, Ilaria, Rapezzi, Claudio

“…Background: Although atrial fibrillation (AF) is a known complication of amyloidotic cardiomyopathy (AC), a precise pathophysiological and prognostic…”
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mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies by Falzarano, Maria Sofia, Mietto, Martina, Fortunato, Fernanda, Farnè, Marianna, Martini, Fernanda, Ala, Pierpaolo, Selvatici, Rita, Muntoni, Francesco, Ferlini, Alessandra

“…To gain insight on dystrophin (DMD) gene transcription dynamics and spatial localization, we assayed the DMD mRNA amount and defined its compartmentalization…”
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Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure by Gagliardi, Christian, Perfetto, Federico, Lorenzini, Massimiliano, Ferlini, Alessandra, Salvi, Fabrizio, Milandri, Agnese, Quarta, Cristina Candida, Taborchi, Giulia, Bartolini, Simone, Frusconi, Sabrina, Martone, Raffaele, Cinelli, Michele Mario, Foffi, Serena, Reggiani, Maria Letizia Bacchi, Fabbri, Gioele, Cataldo, Paolo, Cappelli, Francesco, Rapezzi, Claudio

“…Aims Cardiac amyloidosis remains a great challenge for the cardiologist. One of the three main aetiological forms, transthyretin‐related hereditary amyloidosis…”
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Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males by Fusco, Francesca, Conte, Matilde Immacolata, Diociaiuti, Andrea, Bigoni, Stefania, Branda, Maria Francesca, Ferlini, Alessandra, El Hachem, Maya, Ursini, Matilde Valeria

“…Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the…”
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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy by Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M, Hoffman, Eric P, Koeks, Zaida, Eka Suchiman, H, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A C, Niks, Erik H, Tuffery-Giraud, Sylvie, Lochmüller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke

“…Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability in the disease course…”
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