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Alessandra Ferlini

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Camilla Pellegrini; Patrizia Sabatelli; Alessandra Zulian; Sandra Marmiroli; Luciano Merlini; Maria E Michelini; Luisa Benassi; Paolo Bernardi; Alessandra Ferlini; Francesca Gualandi; Elisa Manzati; Nadir M Maraldi
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy.
Alessandra Ferlini; Marcella Neri; Francesca Gualandi
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice.
Francesca Gualandi; Elisa Manzati; Chiara Passarelli; Elena Pegoraro; Camilla Pellegrini; Daniela Perrone; Patrizia Sabatelli; Stefano Squarzoni; Paolo Bonaldo; Matteo Bovolenta; Alessandra Ferlini
Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy.

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All Publications

2013: Camilla Pellegrini; Patrizia Sabatelli; Alessandra Zulian; Sandra Marmiroli; Luciano Merlini; Maria E Michelini; Luisa Benassi; Paolo Bernardi; Alessandra Ferlini; Francesca Gualandi; Elisa Manzati; Nadir M Maraldi
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy.
Journal of cellular physiology 2013;228(6):1323-31.
2013: Alessandra Ferlini; Marcella Neri; Francesca Gualandi
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice.
Neuromuscular disorders : NMD 2013;23(1):4-14.
2012: Francesca Gualandi; Elisa Manzati; Chiara Passarelli; Elena Pegoraro; Camilla Pellegrini; Daniela Perrone; Patrizia Sabatelli; Stefano Squarzoni; Paolo Bonaldo; Matteo Bovolenta; Alessandra Ferlini
Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy.
Human gene therapy 2012;23(12):1313-8.
2012: Micol Busi; Alessandro Castiglione; Alessandra Ferlini; Valeria Guaran; Anna Ravani; Marina Taddei Masieri; P Trevisi; Laura Astolfi; Alessandro Martini
Novel mutations in the SLC26A4 gene.
International journal of pediatric otorhinolaryngology 2012;76(9):1249-54.
2012: Cristina Candida Quarta; Maria Letizia Bacchi Reggiani; Elena Biagini; Angelo Branzi; Alessandra Ferlini; Francesco Grigioni; Pier Luigi Guidalotti; Ornella Leone; Simone Longhi; Massimiliano Lorenzini; Agnese Milandri; Cinzia Pettinato; Claudio Rapezzi
Defining the diagnosis in echocardiographically suspected senile systemic amyloidosis.
JACC. Cardiovascular imaging 2012;5(7):755-8.
2012: Alessandra Ferlini
Neuromuscular disease: Muscular dystrophy--something new on God's green earth?
Nature reviews. Neurology 2012;8(5):247-9.
2012: Matteo Bovolenta; Maria Sofia Falzarano; Francesca Gualandi; Chiara Scotton; Alessandra Ferlini
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.
Human mutation 2012;33(3):572-81.
2012: Elena Bassi; Paolo Bonaldo; Paola Braghetta; Marina Fabris; Sofia Falzarano; Francesca Gualandi; Michele Laus; Elena Marchesi; Luciano Merlini; Daniela Perrone; Paola Rimessi; Patrizia Sabatelli; Katia Sparnacci; Gaetano Vattemi; Alessandra Ferlini
Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice.
Journal of biomedicine & biotechnology 2012;2012():897076.
2012: Matteo Bovolenta; Simona Brioschi; Daniela Erriquez; Marina Fabris; Maria Sofia Falzarano; Samuele Gherardi; Francesca Gualandi; Marcella Neri; Giovanni Perini; Paola Rimessi; Chiara Scotton; Emanuele Valli; Alessandra Ferlini
The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.
PloS one 2012;7(9):e45328.
2012: Simona Brioschi; Adele D'Amico; Domenico De Grandis; Maria S Falzarano; Annarita Armaroli; Enrico Bertini; Matteo Bovolenta; Francesca Gualandi; Eugenio Mercuri; Luciano Merlini; Tiziana Mongini; Marika Pane; Antonella Pini; Giulia Ricci; Patrizia Sabatelli; Chiara Scotton; Rita Selvatici; Gabriele Siciliano; Silvana Tedeschi; Liliana Vercelli; Alessandra Ferlini
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
BMC medical genetics 2012;13():73.
2012: Marcella Neri; Giovanni Perini; Claudio Rapezzi; Pietro Spitali; Emanuele Valli; Giovanna Alfano; Sandro Banfi; Matteo Bovolenta; Francesca Gualandi; Francesco Muntoni; Alessandra Ferlini
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.
BMC medical genetics 2012;13():20.
2012: Alessandra Ferlini; Paola Rimessi
Exon skipping quantification by real-time PCR.
Methods in molecular biology (Clifton, N.J.) 2012;867():189-99.
2011: Claudio Rapezzi; Letizia Bacchi Reggiani; Caterina Villani; Stefano Fanti; Alessandra Ferlini; Christian Gagliardi; Pamela Gallo; Pier Luigi Guidalotti; Ornella Leone; Simone Longhi; Massimiliano Lorenzini; Cinzia Pettinato; Cristina Candida Quarta; Fabrizio Salvi
Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis.
JACC. Cardiovascular imaging 2011;4(6):659-70.
2011: Claudio Rapezzi; Cristina Candida Quarta; Pier Luigi Guidalotti; Simone Longhi; Cinzia Pettinato; Ornella Leone; Alessandra Ferlini; Fabrizio Salvi; Pamela Gallo; Christian Gagliardi; Angelo Branzi
Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy.
European journal of nuclear medicine and molecular imaging 2011;38(3):470-8.
2011: Luciano Merlini; Maria Elena Michelini; Patrizia Sabatelli; Alessia Angelin; Annarita Armaroli; Enrico Bertini; Paolo Bonaldo; Alessandra Ferlini; Andrea Franchella; Saverio Gnudi; Paolo Grumati; Francesca Gualandi; Nadir Mario Maraldi; Paolo Bernardi
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results.
Oxidative medicine and cellular longevity 2011;2011():139194.
2010: Roberta Rizzo; Federica Spaggiari; Monica Indelli; Giorgio Lelli; Olavio R Baricordi; Paola Rimessi; Alessandra Ferlini
Association of CYP1B1 with hypersensitivity induced by taxane therapy in breast cancer patients.
Breast cancer research and treatment 2010;124(2):593-8.
2010: Paola Rimessi; Marina Fabris; Matteo Bovolenta; Elena Bassi; Sofia Falzarano; Francesca Gualandi; Claudio Rapezzi; Fabio Coccolo; Daniela Perrone; Alessandro Medici; Alessandra Ferlini
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy.
Human gene therapy 2010;21(9):1137-46.
2010: Pietro Spitali; Hans Heemskerk; Rolf H A M Vossen; Alessandra Ferlini; Johan T den Dunnen; Peter A C 't Hoen; Aartsma-Rus Annemieke
Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophy.
Laboratory investigation; a journal of technical methods and pathology 2010;90(9):1396-402.
2010: Hans Heemskerk; Christa de Winter; Petra van Kuik; Niki Heuvelmans; Patrizia Sabatelli; Paola Rimessi; Paola Braghetta; Gert-Jan B van Ommen; Sjef De Kimpe; Alessandra Ferlini; Aartsma-Rus Annemieke; Judith C T van Deutekom
Preclinical PK and PD studies on 2'-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model.
Molecular therapy : the journal of the American Society of Gene Therapy 2010;18(6):1210-7.
2010: Matteo Bovolenta; Paola Rimessi; B Dolcini; Anna Ravani; Alessandra Ferlini; Francesca Gualandi
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization.
Clinical genetics 2010;77(5):503-6.
2010: Alessandra Ferlini; P Sabatelli; M Fabris; E Bassi; Sofia Falzarano; Gaetano Vattemi; D Perrone; Francesca Gualandi; Nadir M Maraldi; Luciano Merlini; Katia Sparnacci; Michele Laus; Antonella Caputo; P Bonaldo; Paola Braghetta; Paola Rimessi
Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes.
Gene therapy 2010;17(3):432-8.
2010: Alessandra Ferlini; Matteo Bovolenta; Marcella Neri; Francesca Gualandi; Alessandra Balboni; Anton Yuryev; Fabrizio Salvi; Donato Gemmati; Alberto Liboni; Clive Beggs
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis.
BMC medical genetics 2010;11():64.
2010: Matteo Bovolenta; Marcella Neri; Elena Martoni; Anna Urciuolo; Patrizia Sabatelli; Marina Fabris; Paolo Grumati; Eugenio Mercuri; Enrico Bertini; Luciano Merlini; Paolo Bonaldo; Alessandra Ferlini; Francesca Gualandi
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
BMC medical genetics 2010;11():44.
2009: Francesca Gualandi; A Urciuolo; E Martoni; Patrizia Sabatelli; Stefano Squarzoni; Matteo Bovolenta; S Messina; E Mercuri; Andrea Franchella; Alessandra Ferlini; Paolo Bonaldo; Luciano Merlini
Autosomal recessive Bethlem myopathy.
Neurology 2009;73(22):1883-91.
2009: Pietro Spitali; Paola Rimessi; Marina Fabris; Daniela Perrone; Sofia Falzarano; Matteo Bovolenta; Cecilia Trabanelli; Lara Mari; Elena Bassi; Sylvie Tuffery; Francesca Gualandi; Nadir M Maraldi; Patrizia Sabatelli-Giraud; Alessandro Medici; Luciano Merlini; Alessandra Ferlini
Exon skipping-mediated dystrophin reading frame restoration for small mutations.
Human mutation 2009;30(11):1527-34.
2009: Claudio Rapezzi; Giampaolo Merlini; Cristina Candida Quarta; Letizia Riva; Simone Longhi; Ornella Leone; Fabrizio Salvi; Paolo Ciliberti; Francesca Pastorelli; Elena Biagini; Fabio Coccolo; Robin M T Cooke; Letizia Bacchi Reggiani; diego sangiorgi; Alessandra Ferlini; Michele Cavo; Elena Zamagni; Maria Luisa Fonte; Giovanni Palladini; Francesco Salinaro; Francesco Musca; Laura Obici; Angelo Branzi; Stefano Perlini
Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types.
Circulation 2009;120(13):1203-12.
2009: Elena Martoni; Anna Urciuolo; Patrizia Sabatelli; Marina Fabris; Matteo Bovolenta; Marcella Neri; Paolo Grumati; Adele D'Amico; Marika Pane; Eugenio Mercuri; Enrico Bertini; Luciano Merlini; Paolo Bonaldo; Alessandra Ferlini; Francesca Gualandi
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.
Human mutation 2009;30(5):E662-72.
2009: Paola Rimessi; Patrizia Sabatelli; Marina Fabris; Paola Braghetta; Elena Bassi; Pietro Spitali; Gaetano Vattemi; Giuliano Tomelleri; Lara Mari; Daniela Perrone; Alessandro Medici; Marcella Neri; Matteo Bovolenta; Elena Martoni; Nadir M Maraldi; Francesca Gualandi; Luciano Merlini; Marco Ballestri; Luisa Tondelli; Katia Sparnacci; Paolo Bonaldo; Antonella Caputo; Michele Laus; Alessandra Ferlini
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse.
Molecular therapy : the journal of the American Society of Gene Therapy 2009;17(5):820-7.
2009: Francesca Gualandi; Marcella Neri; Matteo Bovolenta; E Martoni; Paola Rimessi; S Fini; Pietro Spitali; Marina Fabris; M Pane; Corrado Angelini; M Mora; L Morandi; Tiziana Mongini; E Bertini; E Ricci; G Vattemi; E Mercuri; Luciano Merlini; Alessandra Ferlini
Transcriptional behavior of DMD gene duplications in DMD/BMD males.
Human mutation 2009;30(2):E310-9.
2008: Luciano Merlini; E Martoni; P Grumati; Patrizia Sabatelli; Stefano Squarzoni; A Urciuolo; Alessandra Ferlini; Francesca Gualandi; Paolo Bonaldo
Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
Neurology 2008;71(16):1245-53.
2008: Luciano Merlini; Alessia Angelin; Tania Tiepolo; Paola Braghetta; Patrizia Sabatelli; Alessandra Zamparelli; Alessandra Ferlini; Nadir M Maraldi; Paolo Bonaldo; Paolo Bernardi
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(13):5225-9.
2008: Claudio Rapezzi; Letizia Riva; Cristina Candida Quarta; Enrica Perugini; Fabrizio Salvi; Simone Longhi; Paolo Ciliberti; Francesca Pastorelli; Elena Biagini; Ornella Leone; Robin M T Cooke; Letizia Bacchi Reggiani; Alessandra Ferlini; Michele Cavo; Giampaolo Merlini; Stefano Perlini; Sonia Pasquali; Angelo Branzi
Gender-related risk of myocardial involvement in systemic amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2008;15(1):40-8.
2008: Matteo Bovolenta; Marcella Neri; Sergio Fini; Marina Fabris; Cecilia Trabanelli; Anna Venturoli; Elena Martoni; Elena Bassi; Pietro Spitali; Simona Brioschi; Maria S Falzarano; Paola Rimessi; Roberto Ciccone; Emma Ashton; Joanne McCauley; Shu C Yau; Stephen Abbs; Francesco Muntoni; Luciano Merlini; Francesca Gualandi; Alessandra Ferlini
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.
BMC genomics 2008;9():572.
2007: Marcella Neri; Silvia Torelli; Sue Brown; Isabella Ugo; Patrizia Sabatelli; Luciano Merlini; Pietro Spitali; Paola Rimessi; Francesca Gualandi; Caroline Sewry; Alessandra Ferlini; Francesco Muntoni
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.
Neuromuscular disorders : NMD 2007;17(11-12):913-8.
2007: Klaus Altland; Merrill D Benson; Catherine E Costello; Alessandra Ferlini; Bouke P C Hazenberg; Ernst Hund; Arnt V Kristen; Reinhold P Linke; Giampaolo Merlini; Fabrizio Salvi; Maria João Saraiva; Reinhard Singer; Martha Skinner; Pia Winter
Genetic microheterogeneity of human transthyretin detected by IEF.
Electrophoresis 2007;28(12):2053-64.
2007: Alessia Angelin; Tania Tiepolo; Patrizia Sabatelli; Paolo Grumati; Natascha Bergamin; Cristina Golfieri; Elisabetta Mattioli; Francesca Gualandi; Alessandra Ferlini; Luciano Merlini; Nadir M Maraldi; Paolo Bonaldo; Paolo Bernardi
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(3):991-6.
2006: Alessandra Ferlini; Anna Ravani; Anna Venturoli; Cecilia Trabanelli; Marina Taddei Masieri; Alessandra Brandi; Bernardetta Dolcini; Paola Rimessi; Francesca Gualandi; Elisa Calzolari
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories.
Prenatal diagnosis 2006;26(10):989-91.
2006: Claudio Rapezzi; Enrica Perugini; Fabrizio Salvi; Francesco Grigioni; Letizia Riva; Robin M T Cooke; Alessandra Ferlini; Paola Rimessi; Letizia Bacchi Reggiani; Paolo Ciliberti; Francesca Pastorelli; Ornella Leone; Ilaria Bartolomei; Antonio Daniele Pinna; Giorgio Arpesella; Angelo Branzi
Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2006;13(3):143-53.
2006: Paolo Prontera; Barbara Buldrini; Vincenzo Aiello; Rita Gruppioni; Alessandra Bonfatti; Giovanna Venti; Alessandra Ferlini; Alberto Sensi; Elisa Calzolari; Emilio Donti
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis.
Prenatal diagnosis 2006;26(6):571-6.
2006: Francesca Gualandi; Paola Rimessi; Cecilia Trabanelli; Pietro Spitali; Marcella Neri; Tomaso Patarnello; Corrado Angelini; Shu C Yau; Stephen Abbs; Francesco Muntoni; Elisa Calzolari; Alessandra Ferlini
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene.
Gene 2006;370():26-33.
2006: Paola Rimessi; Pietro Spitali; Yukio Ando; Vincenzo Mazzaferro; Francesca Pastorelli; Carlo Alberto Tassinari; Elisa Calzolari; Fabrizio Salvi; Alessandra Ferlini
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point.
Liver international : official journal of the International Association for the Study of the Liver 2006;26(2):211-20.
2005: Liborio Stuppia; Ivana Antonucci; Francesco Binni; Alessandra Brandi; Nicoletta Grifone; Alessia Colosimo; Mariella De Santo; Valentina Gatta; Gianfranco Gelli; Valentina Guida; Silvia Majore; Giuseppe Calabrese; Chiara Palka; Anna Ravani; Rosanna Rinaldi; Gian Mario Tiboni; Enzo Ballone; Anna Venturoli; Alessandra Ferlini; Isabella Torrente; Paola Grammatico; Elisa Calzolari; Bruno Dallapiccola
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.
European journal of human genetics : EJHG 2005;13(8):959-64.
2005: Fabrizio Salvi; Francesca Pastorelli; Rosaria Plasmati; Alessandra Ferlini; Gian Luca Grazi; Elio Jovine; Mario Mascalchi; Carlo Alberto Tassinari
Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2005;26(2):140-2.
2005: Paola Rimessi; Francesca Gualandi; Laurence Duprez; Pietro Spitali; Marcella Neri; Luciano Merlini; Elisa Calzolari; Francesco Muntoni; Alessandra Ferlini
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.
American journal of medical genetics. Part A 2005;132(4):391-4.
2004: Alberto Sensi; Simona Cavani; Nicoletta Villa; Maria Grazia Pomponi; Antonella Fogli; Francesca Gualandi; M Grasso; Elena Sala; Roberta Pietrobono; Fulvia Baldinotti; E Savin; Alessandra Ferlini; Massimiliano Cecconi; S Rossi; S Gallone; C Bellini; Giovanni Neri; E Martinoli; Paolo Simi; Leda Dalprà; Maurizio Genuardi; Franca Dagna Bricarelli; Elisa Calzolari
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey.
Prenatal diagnosis 2004;24(8):647-52.
2004: Niaz Cohen; Paola Rimessi; Francesca Gualandi; Alessandra Ferlini; Francesco Muntoni
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy.
Biochemical and biophysical research communications 2004;317(4):1215-20.
2004: E Gualandi; Anna Ravani; A Berto; S Burdo; P Trevisi; Alessandra Ferlini; alessandro martini; Elisa Calzolari
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele.
Acta oto-laryngologica. Supplementum 2004;(552):29-34.
2004: Luciano Bovicelli; Tullio Ghi; Gianluigi Pilu; Antonio Farina; Luca Savelli; Giuliana Simonazzi; Elisa Calzolari; Alessandra Ferlini; Daniele Santini; Barbara Valeri
Prenatal diagnosis of a complete mole coexisting with a dichorionic twin pregnancy: case report.
Human reproduction (Oxford, England) 2004;19(5):1231-4.
2003: Francesco Muntoni; Silvia Torelli; Alessandra Ferlini
Dystrophin and mutations: one gene, several proteins, multiple phenotypes.
Lancet neurology 2003;2(12):731-40.
2003: Fabrizio Salvi; Cesa Scaglione; Roberto Michelucci; Reinhold P Linke; L Obici; Anna Ravani; Paola Rimessi; Alessandra Ferlini; Stefano Meletti; T Cavallaro; Carlo Alberto Tassinari; Paolo Martinelli
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2003;10(3):185-9.
2003: Francesca Gualandi; Cecilia Trabanelli; Paola Rimessi; Elisa Calzolari; Luisa Toffolatti; Tomaso Patarnello; G Kunz; Francesco Muntoni; Alessandra Ferlini
Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.
Journal of medical genetics 2003;40(8):e100.
2003: Francesca Gualandi; Paola Rimessi; Barbara Cardazzo; Luisa Toffolatti; Matthew G Dunckley; Elisa Calzolari; Tomaso Patarnello; Francesco Muntoni; Alessandra Ferlini
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality.
Gene 2003;311():25-33.
2003: Barbara Cardazzo; Luca Bargelloni; Luisa Toffolatti; Paola Rimessi; Alessandra Ferlini; Tomaso Patarnello
Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family.
Journal of molecular evolution 2003;57 Suppl 1():S268-76.
2002: Luisa Toffolatti; Barbara Cardazzo; Carlo Nobile; Gian Antonio Danieli; Francesca Gualandi; Francesco Muntoni; Stephen Abbs; Patrizia Zanetti; Corrado Angelini; Alessandra Ferlini; Marina Fanin; Tomaso Patarnello
Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene.
Genomics 2002;80(5):523-30.
2002: Francesca Gualandi; Anna Ravani; A Berto; Alberto Sensi; Cecilia Trabanelli; F Falciano; P Trevisi; M Mazzoli; M G Tibiletti; E Cristofari; S Burdo; Alessandra Ferlini; alessandro martini; Elisa Calzolari
Exploring the clinical and epidemiological complexity of GJB2-linked deafness.
American journal of medical genetics 2002;112(1):38-45.
2002: Mario Mascalchi; Mirco Cosottini; Francesco Lolli; Fabrizio Salvi; Carlo Tessa; Marco Macucci; Michela Tosetti; Rosaria Plasmati; Alessandra Ferlini; Carlo Alberto Tassinari; Natale Villari
Proton MR spectroscopy of the cerebellum and pons in patients with degenerative ataxia.
Radiology 2002;223(2):371-8.
2001: Marcella Vacca; Francesco Filippini; A Budillon; V Rossi; Floriana Della Ragione; Maria Luigia De Bonis; Grazia Mercadante; E Manzati; Francesca Gualandi; Stefania Bigoni; Cecilia Trabanelli; G Pini; E Calzolari; Alessandra Ferlini; Ilaria Meloni; Giuseppe Hayek; Michele Zappella; Alessandra Renieri; Michele D'Urso; Maurizio D'Esposito; Fiona Macdonald; Alison Kerr; Seema Dhanjal; Maj Hulten
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.
Brain & development 2001;23 Suppl 1():S246-50.
2001: Carlo Bastianutto; J A Bestard; K Lahnakoski; D Broere; M De Visser; M Zaccolo; T Pozzan; Alessandra Ferlini; F Muntoni; Tomaso Patarnello; Henry J Klamut
Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy.
Human molecular genetics 2001;10(23):2627-35.
2001: D Guidetti; R Sabadini; Alessandra Ferlini; Isabella Torrente
Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy.
European journal of epidemiology 2001;17(6):587-91.
2001: Giordana Feriotto; Alessandra Ferlini; Anna Ravani; Elisa Calzolari; Carlo Mischiati; N Bianchi; R Gambari
Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR.
Human mutation 2001;18(1):70-81.
2001: Marcella Vacca; Francesco Filippini; A Budillon; V Rossi; Grazia Mercadante; E Manzati; Francesca Gualandi; Stefania Bigoni; Cecilia Trabanelli; G Pini; E Calzolari; Alessandra Ferlini; Ilaria Meloni; Giuseppe Hayek; Michele Zappella; Alessandra Renieri; Michele D'Urso; Maurizio D'Esposito; Fiona Macdonald; Alison Kerr; Seema Dhanjal; Maj A Hultén
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Journal of molecular medicine (Berlin, Germany) 2001;78(11):648-55.
2000: Alessandra Ferlini; L Obici; E Manzati; O Biadi; E Tarantino; P Conigli; G Merlini; M D'Alessandro; Vincenzo Mazzaferro; Carlo Alberto Tassinari; Fabrizio Salvi
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47.
Clinical genetics 2000;57(4):284-90.
2000: IS Naom; M D'Alessandro; Caroline A Sewry; P Jardine; Alessandra Ferlini; T Moss; Victor Dubowitz; Francesco Muntoni
Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.
Brain : a journal of neurology 2000;123 ( Pt 1)():31-41.
1999: Francesco Muntoni; Alessandra Ferlini; Caroline Sewry; Anna Mateddu; Giovanni Marrosu; Maurizio Porcu; Andrea Di Lenarda; Gianfranco Sinagra; Luisa Mestroni
Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned?
Cardiologia (Rome, Italy) 1999;44 Suppl 1(Pt 1):209-11.
1999: Silvia Torelli; Alessandra Ferlini; L Obici; Caroline Sewry; Francesco Muntoni
Expression, regulation and localisation of dystrophin isoforms in human foetal skeletal and cardiac muscle.
Neuromuscular disorders : NMD 1999;9(8):541-51.
1999: Mario Mascalchi; Fabrizio Salvi; Maurizio Pirini; A D'Errico; Alessandra Ferlini; Francesco Lolli; Rosaria Plasmati; Carlo Tessa; Natale Villari; Carlo Alberto Tassinari
Transthyretin amyloidosis and superficial siderosis of the CNS.
Neurology 1999;53(7):1498-503.
1999: M D'Alessandro; IS Naom; Alessandra Ferlini; Caroline Sewry; Victor Dubowitz; Francesco Muntoni
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
Human genetics 1999;105(4):308-13.
1999: Alessandra Ferlini; Caroline Sewry; Maria Antonietta Melis; Anna Mateddu; Francesco Muntoni
X-linked dilated cardiomyopathy and the dystrophin gene.
Neuromuscular disorders : NMD 1999;9(5):339-46.
1998: Alessandra Ferlini; N Galié; Luciano Merlini; Caroline Sewry; A Branzi; Francesco Muntoni
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.
American journal of human genetics 1998;63(2):436-46.
1998: Alessandra Ferlini; Francesco Muntoni
The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs.
Biochemical and biophysical research communications 1998;242(2):401-6.
1997: Francesco Muntoni; Andrea Di Lenarda; Maurizio Porcu; Gianfranco Sinagra; Anna Mateddu; Giovanni Marrosu; Alessandra Ferlini; Milena Cau; J Milasin; Maria Antonietta Melis; M G Marrosu; Carlo Cianchetti; A Sanna; Arturo Falaschi; Fulvio Camerini; Mauro Giacca; Luisa Mestroni
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.
Heart (British Cardiac Society) 1997;78(6):608-12.
1997: Caroline A Sewry; M D'Alessandro; L A Wilson; L M Sorokin; IS Naom; S Bruno; Alessandra Ferlini; Victor Dubowitz; Francesco Muntoni
Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.
Neuropediatrics 1997;28(4):217-22.
1997: IS Naom; Caroline Sewry; M D'Alessandro; Haluk Topaloglu; Alessandra Ferlini; L Wilson; Victor Dubowitz; Francesco Muntoni
Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.
Neuromuscular disorders : NMD 1997;7(3):176-9.
1997: IS Naom; M D'Alessandro; Caroline Sewry; Alessandra Ferlini; Haluk Topaloglu; AH Helbling-Leclerc; Pascale Guicheney; Ketty Schwartz; Zuhal Akcoren; Victor Dubowitz; Francesco Muntoni
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.
Human genetics 1997;99(4):535-40.
1997: IS Naom; M D'Alessandro; Haluk Topaloglu; Caroline Sewry; Alessandra Ferlini; AH Helbling-Leclerc; Pascale Guicheney; J Weissenbach; Ketty Schwartz; Kate Bushby; J Philpot; Victor Dubowitz; Francesco Muntoni
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
Journal of medical genetics 1997;34(2):99-104.
1996: Pasquale Montagna; L Marchello; Rosaria Plasmati; Alessandra Ferlini; M C Patrosso; Fabrizio Salvi
Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP).
Electroencephalography and clinical neurophysiology 1996;101(5):423-30.
1996: C A Sewry; IS Naom; M D'Alessandro; Alessandra Ferlini; J Philpot; Eugenio Mercuri; Victor Dubowitz; Francesco Muntoni
The protein defect in congenital muscular dystrophy.
Biochemical Society transactions 1996;24(2):281S.
1996: Masaaki Nakamura; Y Tanaka; Yukio Ando; Takeshi Yamashita; Fabrizio Salvi; Alessandra Ferlini; P Gobbi; C Patrosso; Makoto Uchino; Masayuki Ando
Decreased affinity of apolipoprotein AII to high-density lipoprotein in patients with transthyretin-related amyloidosis (Met30, Gln89, Pro36, and Thr34).
Biochemical and biophysical research communications 1996;219(2):316-21.
1996: Donata Guidetti; E Vescovini; L Motti; E Ghidoni; Franco Gemignani; Adriana Marbini; M C Patrosso; Alessandra Ferlini; F Solime
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family.
Journal of the neurological sciences 1996;135(2):140-8.
1996: Alessandra Ferlini; Fabrizio Salvi; A Uncini; J el-Chami; Pia Winter; Klaus Altland; M Repetto; M Littardi; A Campoleoni; Paolo Vezzoni; M C Patrosso
Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.
Clinical genetics 1996;49(1):10-4.
1995: Alessandra Ferlini; Michele Ragno; P Gobbi; C Marinucci; R Rossi; A Zanetti; M Milan; G Camera; E Calzolari
Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndrome.
American journal of medical genetics 1995;59(4):506-11.
1995: Maria Rosário Almeida; N Aoyama-Oishi; Yoshiyuki Sakaki; G Holmgren; D Ulf; Alessandra Ferlini; Fabrizio Salvi; M Munar-Oués; M D Benson; Martha Skinner
Haplotype analysis of common transthyretin mutations.
Human genetics 1995;96(3):350-4.
1995: Michele Ragno; Elisabeth Tournier-Lasserve; M G Fiori; A Manca; M C Patrosso; Alessandra Ferlini; G Sirocchi; L Trojano; Hugues Chabriat; Fabrizio Salvi
An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Annals of neurology 1995;38(2):231-6.
1995: Alessandra Ferlini; M C Patrosso; Donata Guidetti; Luciano Merlini; Antonino Uncini; Michele Ragno; Rosaria Plasmati; S Fini; M Repetto; Paolo Vezzoni
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.
American journal of medical genetics 1995;55(1):105-11.
1994: M Nesi; Pier Giorgio Righetti; M C Patrosso; Alessandra Ferlini; M Chiari
Capillary electrophoresis of polymerase chain reaction-amplified products in polymer networks: the case of Kennedy's disease.
Electrophoresis 1994;15(5):644-6.
1994: Alessandra Ferlini; M C Patrosso; M Repetto; Annalisa Frattini; A Villa; S Fini; Fabrizio Salvi; Paolo Vezzoni; A Forabosco
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis.
Human mutation 1994;4(1):61-4.
1993: Fabrizio Salvi; G Salvi; R Volpe; R Mencucci; Rosaria Plasmati; Roberto Michelucci; P Gobbi; M Santangelo; Alessandra Ferlini; A Forabosco
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families.
Ophthalmic paediatrics and genetics 1993;14(1):9-16.
1992: Alessandra Ferlini; S Fini; Fabrizio Salvi; M C Patrosso; Paolo Vezzoni; A Forabosco
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1992;6(10):2864-6.
1992: Bruno Barbiroli; R Funicello; Stefano Iotti; Pasquale Montagna; Alessandra Ferlini; P Zaniol
31P-NMR spectroscopy of skeletal muscle in Becker dystrophy and DMD/BMD carriers. Altered rate of phosphate transport.
Journal of the neurological sciences 1992;109(2):188-95.
1992: Bruno Barbiroli; R Funicello; Alessandra Ferlini; Pasquale Montagna; P Zaniol
Muscle energy metabolism in female DMD/BMD carriers: a 31P-MR spectroscopy study.
Muscle & nerve 1992;15(3):344-8.
1992: Maria Rosário Almeida; Alessandra Ferlini; A Forabosco; M Gawinowicz; P P Costa; Fabrizio Salvi; Rosaria Plasmati; Carlo Alberto Tassinari; Klaus Altland; Maria João Saraiva
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.
Human mutation 1992;1(3):211-5.
1991: S Sangiorgi; Alessandra Ferlini; A Zanetti; Mirella Mochi
Reduced activity of arylsulfatase A and predisposition to neurological disorders: analysis of 140 pediatric patients.
American journal of medical genetics 1991;40(3):365-9.
1990: Alessandra Ferlini; L Ansaloni; C Nobile; A Forabosco
Molecular analysis of the Rett syndrome using cDNA synapsin I as a probe.
Brain & development 1990;12(1):136-9.
1988: Maria João Saraiva; P P Costa; M do R Almeida; A Banzhoff; Klaus Altland; Alessandra Ferlini; Guido Rubboli; Rosaria Plasmati; Carlo Alberto Tassinari; Giovanni Romeo
Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin.
Human genetics 1988;80(4):341-3.
1988: Giovanni Romeo; Marcella Devoto; N Archidiacono; Alessandra Ferlini; L Roncuzzi; Maria Antonietta Melis; E Paderi; M Ferrari; S Tedeschi; G Galluzzi
Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies.
European journal of pediatrics 1988;147(4):412-5.
1988: Alessandra Ferlini; Giovanni Romeo; Carlo Alberto Tassinari; Maria João Saraiva; P P Costa; Fabrizio Salvi
Discrimination of peripheral polyneuropathies caused by TTR variant or diabetes in the same pedigree through protein studies.
Advances in neurology 1988;48():201-8.
1988: Giovanni Romeo; M Rocchi; L Roncuzzi; Alessandra Ferlini; C Nobile; Michela Rugolo
X-linked muscular dystrophies: studies through functional assay and DNA polymorphisms.
Advances in neurology 1988;48():31-6.
1986: L Roncuzzi; Alessandra Ferlini; A Pirozzi; Giovanni Romeo
Origin of new mutations in Duchenne muscular dystrophy.
Human genetics 1986;74(4):456-60.
1986: Alessandra Ferlini; L Roncuzzi; Giovanni Romeo
[New instruments in molecular genetics for the prevention of X chromosome-linked muscular dystrophy].
Minerva pediatrica 1986;38(15-16):639-42.
1986: Louis Kunkel; J Fielding Hejtmancik; C T Caskey; Astrid Speer; Anthony P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; Margaret Pericak-Vance; Allen D Roses; M W Thompson; P N Ray; R G Worton; Kenneth H Fischbeck; Pía Gallano; M Coulon; C Duros; J Boue; Claudine Junien; Jamel Chelly; G Hamard; Marc Jeanpierre; M Lambert; Jean-Claude Kaplan; A Emery; H Dorkins; S McGlade; Kay E Davies; Corinne D Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; Martin Bobrow; F Benham; E Boswinkel; C Cole; Victor Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; Alessandra Ferlini; C Nobile; Giovanni Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; Charles C Searby; R Ionasescu; Egbert Bakker; Gert-Jan B van Ommen; P L Pearson; Cheryl R Greenberg; J L Hamerton; Klaus Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; Jeffrey F Harper; B T Darras; U Francke
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.
1986: Giovanni Romeo; N Archidiacono; Alessandra Ferlini; M Rocchi
Rett syndrome: lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations.
American journal of medical genetics. Supplement 1986;1():355-9.