Alessandra Ferlini

Alessandra Ferlini

UNVERIFIED PROFILE

Are you Alessandra Ferlini?   Register this Author

Register author
Alessandra Ferlini

Alessandra Ferlini

Publications by authors named "Alessandra Ferlini"

Are you Alessandra Ferlini?   Register this Author

100Publications

3313Reads

40Profile Views

Nanodiagnostics and Nanodelivery Applications in Genetic Alterations.

Curr Pharm Des 2018 ;24(15):1717-1726

Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2174/1381612824666180110151318DOI Listing
October 2019

Report of a novel ATP7A mutation causing distal motor neuropathy.

Neuromuscul Disord 2019 Oct 23;29(10):776-785. Epub 2019 Aug 23.

Department of Medical Sciences, Section of Medical Genetics, University of Ferrara - Unit of Medical Genetics - University Hospital, Via Fossato di Mortara, 74, 44121 Ferrara, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2019.08.008DOI Listing
October 2019

Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study.

Neuromuscul Disord 2019 Sep 30;29(9):657-663. Epub 2019 Jul 30.

Center for Neuromuscular Diseases, Unit of Neurology, ASST "Spedali Civili", Brescia, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2019.07.007DOI Listing
September 2019

Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature.

J Clin Med 2019 May 8;8(5). Epub 2019 May 8.

UOL (Unita` Operativa Logistica) of Medical Genetics, University of Ferrara, 44121 Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/jcm8050627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6572423PMC
May 2019

Cochlear malformation and sensorineural hearing loss in the Silver-Russell Syndrome.

Minerva Pediatr 2018 Dec 7;70(6):638-639. Epub 2017 Sep 7.

Department of Ear Nose and Throat and Audiology, Ferrara University Hospital, Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.23736/S0026-4946.17.04993-3DOI Listing
December 2018

Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.

Cardiology 2017;137(4):256-260. Epub 2017 May 12.

Medical Genetics Logistic Unit (UOL), Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000471792DOI Listing
August 2018

A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics.

Cardiology 2017;138(2):69-72. Epub 2017 Jun 13.

Cardiovascular Istitute, Azienda Ospedaliera Universitaria di Ferrara, Universitaria di Ferrara, Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000475461DOI Listing
August 2018

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature.

Mol Syndromol 2018 Jul 30;9(4):175-181. Epub 2018 May 30.

UOL of Medical Genetics, Department of Reproduction and Growth and Department of Medical Science, University Hospital S. Anna, Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000489842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103356PMC
July 2018

A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene.

Clin Neurol Neurosurg 2017 12 5;163:15-17. Epub 2017 Oct 5.

UOL di Genetica Medica, Dipartimento di Riproduzione ed Accrescimento e Dipartimento di Scienze Mediche, Università di Ferrara, via Fossato di Mortara, 74, 44121 Ferrara, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clineuro.2017.09.012DOI Listing
December 2017

Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.

Mol Syndromol 2017 Dec 13;9(1):30-37. Epub 2017 Sep 13.

UOL of Medical Genetics, Department of Reproduction and Growth and Department of Medical Science, Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000480159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803729PMC
December 2017

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

Eur J Paediatr Neurol 2017 Nov 22;21(6):873-883. Epub 2017 Jul 22.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.07.009DOI Listing
November 2017

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Biochim Biophys Acta Gene Regul Mech 2017 Nov 1;1860(11):1138-1147. Epub 2017 Sep 1.

Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy; CIRI Health Sciences & Technologies (HST), Bologna, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbagrm.2017.08.010DOI Listing
November 2017

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Neuromuscul Disord 2017 Sep 4;27(9):861-872. Epub 2017 May 4.

Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4AZ, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.05.002DOI Listing
September 2017

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males.

Pediatrics 2017 09 9;140(3). Epub 2017 Aug 9.

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR, Naples, Italy;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2016-2950DOI Listing
September 2017

Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease.

Molecules 2017 Apr 5;22(4). Epub 2017 Apr 5.

UOL Medical Genetics, University of Ferrara, Ferrara 44121, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/molecules22040563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154734PMC
April 2017

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.

Neuromuscul Disord 2016 10 16;26(10):662-665. Epub 2016 Aug 16.

Center for Neuromuscular Diseases and Neuropathies, Unit of Neurology, ASST "Spedali Civili", University of Brescia, Brescia, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2016.08.007DOI Listing
October 2016

A Family with γ-Thalassemia and High Hb A2 Levels.

Hemoglobin 2016 Jun;40(3):187-90

a Dipartimento di Riproduzione e Accressimento e Dipartimento di Scienze Mediche, Unità Operativa Logistica (UOL) di Genetica Medica, Ospedale Universitario S. Anna , Ferrara , Italia and.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/03630269.2016.1148613DOI Listing
June 2016

The Popeye Domain Containing Genes and Their Function in Striated Muscle.

J Cardiovasc Dev Dis 2016 Jun 15;3(2). Epub 2016 Jun 15.

Developmental Dynamics, Harefield Heart Science Centre, National Heart and Lung Institute, Imperial College London, Hill End Road, Harefield UB9 6JH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/jcdd3020022DOI Listing
June 2016

The Popeye Domain Containing Genes and their Function in Striated Muscle.

J Cardiovasc Dev Dis 2016 Jun;3(2):22

Developmental Dynamics, Harefield Heart Science Centre, National Heart and Lung Institute, Imperial College London, Hill End Road, Harefield, UB9 6JH, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/jcdd3020022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918794PMC
June 2016

Atrial fibrillation in amyloidotic cardiomyopathy: prevalence, incidence, risk factors and prognostic role.

Amyloid 2015 5;22(3):147-55. Epub 2015 Jun 5.

a Cardiology Unit, Department of Experimental, Diagnostic and Specialty Medicine - DIMES, Alma Mater Studiorum , University of Bologna , Bologna , Italy .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13506129.2015.1028616DOI Listing
May 2016

Thyroid function in Rett syndrome.

Horm Res Paediatr 2015 21;83(2):118-25. Epub 2015 Jan 21.

Health Sciences Department, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000370066DOI Listing
December 2015

Duchenne Muscular Dystrophy: From Diagnosis to Therapy.

Molecules 2015 Oct 7;20(10):18168-84. Epub 2015 Oct 7.

Unit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, 44121 Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/molecules201018168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332113PMC
October 2015

Paternal germline mosaicism in collagen VI related myopathies.

Eur J Paediatr Neurol 2015 Sep 30;19(5):533-6. Epub 2015 Apr 30.

UOL of Medical Genetics, Department of Reproduction and Growth and Department of Medical Science, University-Hospital S'Anna, Ferrara, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2015.04.002DOI Listing
September 2015

Prevalence of congenital muscular dystrophy in Italy: a population study.

Neurology 2015 Mar 4;84(9):904-11. Epub 2015 Feb 4.

From the Departments of Paediatrics and Neurology (A.G., F.B., G.T., M. Monforte, E.R., M.P., E.M.), Catholic University, Rome; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., G.T., E.B.), Department of Neurosciences, Bambino Gesù Children's Hospital, Rome; Pediatric Neurology and Neuromuscular Disease and Immunology Unit (I.M., M. Mora, L.M.), Istituto Neurologico Besta, Milan; Department of Neurosciences, Psychiatry and Anaesthesiology (S.M.), University of Messina; Neuromuscular Disease Unit (C.B., C.M.), G. Gaslini Institute, Genoa; Department of Neurosciences (E.P.), University of Padua, Italy; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit (G.A., R.B., F.M.S.), Stella Maris Institute, Pisa; Department of Neurological Sciences (F. Magri, G.P.C.), IRCCS Ospedale Maggiore Policlinico, University of Milan; Child Neurology and Psychiatry Unit (A.B.), IRCCS C. Mondino Foundation; Neuromuscular and Rare Diseases Unit (M. Moggio), IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Milano; Child Neurology and Psychiatry Unit (A.P.), IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna; Cardiomiologia e Genetica Medica (R.P., L.P.), Dipartimento di Medicina Sperimentale Seconda Università di Napoli; Neuromuscular Center (T.M.), S.G. Battista Hospital, University of Turin; Centro Nemo (K.G.), Milan; Neuromuscular Unit (M.V.), Nigrisoli Hospital, Bologna; Section of Medical Genetics (F.G., A.F.), Department of Experimental and Diagnostic Medicine, Ferrara, Italy; and Dubowitz Neuromuscular Centre (F. Muntoni), UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351663PMC
March 2015

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Ann Neurol 2015 Feb 17;77(2):206-14. Epub 2014 Dec 17.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.24303DOI Listing
February 2015

204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands.

Neuromuscul Disord 2015 Feb 11;25(2):184-98. Epub 2014 Sep 11.

Department of Medicine, Department of Human Genetics, The University of Chicago, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2014.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534085PMC
February 2015

Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies.

J Proteome Res 2014 Nov 24;13(11):5022-30. Epub 2014 Sep 24.

Department of Biomedical Sciences for Health, University of Milan , Segrate, Milan 20090, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/pr500675eDOI Listing
November 2014

Biodistribution studies of polymeric nanoparticles for drug delivery in mice.

Hum Gene Ther 2014 Nov 22;25(11):927-8. Epub 2014 Sep 22.

1 Department of Medical Sciences, University of Ferrara , 44121 Ferrara, Italy .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/hum.2014.073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236061PMC
November 2014

Translational and regulatory challenges for exon skipping therapies.

Hum Gene Ther 2014 Oct;25(10):885-92

1 Department of Human Genetics, Leiden University Medical Center , 2333 ZA Leiden, The Netherlands .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/hum.2014.086DOI Listing
October 2014

Genetic counseling for women referred for advanced maternal age: a telegenetic approach.

Genet Med 2014 Oct;16(10):795

1] Section of Medical Genetics and Microbiology, Department of Medical Sciences, University of Ferrara, Ferrara, Italy [2] Medical Genetics Unit, Department of Reproduction and Growth, S. Anna University Hospital, Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189378PMC
October 2014

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

Nat Med 2014 09 10;20(9):992-1000. Epub 2014 Aug 10.

1] The Center for Gene Therapy, Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio, USA. [2] Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA. [3] Department of Neurology, The Ohio State University, Columbus, Ohio, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nm.3628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4165597PMC
September 2014

Biomarkers and surrogate endpoints in Duchenne: meeting report.

Neuromuscul Disord 2014 Aug 28;24(8):743-5. Epub 2014 May 28.

United Parent Project Muscular Dystrophy, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2014.03.006DOI Listing
August 2014

Biomarkers in rare neuromuscular diseases.

Exp Cell Res 2014 Jul 31;325(1):44-9. Epub 2013 Dec 31.

Section of Microbiology and Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yexcr.2013.12.020DOI Listing
July 2014

Nanoparticle delivery of antisense oligonucleotides and their application in the exon skipping strategy for Duchenne muscular dystrophy.

Nucleic Acid Ther 2014 Feb;24(1):87-100

1 Section of Microbiology and Medical Genetics, Department of Medical Sciences, University of Ferrara , Ferrara, Italy .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/nat.2013.0450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922138PMC
February 2014

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Neurogenetics 2013 Nov 24;14(3-4):247-50. Epub 2013 Aug 24.

Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-013-0371-zDOI Listing
November 2013

Non-coding RNAs in muscle dystrophies.

Int J Mol Sci 2013 Sep 30;14(10):19681-704. Epub 2013 Sep 30.

Department of Pharmacy and Biotechnology, University of Bologna, Bologna 40126, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms141019681DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3821580PMC
September 2013

The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice.

Neuromuscul Disord 2013 Jan 30;23(1):4-14. Epub 2012 Oct 30.

Section of Medical Genetics, Department of Medical Sciences, University of Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2012.09.002DOI Listing
January 2013

Novel mutations in the SLC26A4 gene.

Int J Pediatr Otorhinolaryngol 2012 Sep 18;76(9):1249-54. Epub 2012 Jun 18.

Audiology Department - C.so Giovecca 203, 44121, University of Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2012.05.014DOI Listing
September 2012

Exon skipping quantification by real-time PCR.

Methods Mol Biol 2012 ;867:189-99

Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-61779-767-5_12DOI Listing
July 2012

Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up.

Muscle Nerve 2012 Jun;45(6):796-802

Laboratory of Musculoskeletal Cell Biology, Rizzoli Orthopedic Institute, Bologna, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.23272DOI Listing
June 2012

Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array.

Hum Mutat 2012 Mar 25;33(3):572-81. Epub 2012 Jan 25.

Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22017DOI Listing
March 2012

Neuromuscular disease: Muscular dystrophy--something new on God's green earth?

Nat Rev Neurol 2012 Mar 27;8(5):247-9. Epub 2012 Mar 27.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrneurol.2012.41DOI Listing
March 2012

Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results.

Oxid Med Cell Longev 2011 17;2011:139194. Epub 2011 Oct 17.

Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, 44121 Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2011/139194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199070PMC
February 2012

Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects.

J Am Coll Cardiol 2011 Aug;58(9):925-34

Centre for Inherited Cardiovascular Diseases, Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Policlinico San Matteo, Pavia, Italy; Department of Pediatric Sciences and Human Pathology, University of Pavia, Pavia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacc.2011.01.072DOI Listing
August 2011

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

Am J Med Genet A 2011 May 7;155A(5):1096-101. Epub 2011 Apr 7.

Genetica Medica, Azienda Ospedaliero Universitaria di Ferrara, Università di Ferrara, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33962DOI Listing
May 2011