Publications by authors named "Alessandra Ferlini"

100Publications

RNA-targeted drugs for neuromuscular diseases.

Science 2021 Jan;371(6524):29-31

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

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January 2021

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.

Neurol Genet 2021 Feb 24;7(1):e536. Epub 2020 Dec 24.

Medical Genetics Unit (R.S., R.R., F.F., C.T., A.M., M.N., F.G., A.F.), Department of Medical Sciences, University of Ferrara, Italy; Neurologie (Y.S.), CHU de Benbadis, Constantine, Algérie; 2nd Department of Paediatrics Clinic (L.S., A.H.), Semmelweis University; Institute of Genomic Medicine and Rare Disorders (B.F., M.J.M.), Semmelweis University, Budapest, Hungary; Department of Medical Genetics (L.A.), Medical University, Varna, Bulgaria; Department of Pediatrics (I. Litvinenko), Medical University Sofia; Department of Child Neurology (I. Litvinenko), University Pediatric Hospital "Prof. Ivan Mitev", Sofia; Department Pediatrics (I.I.), St. George University Hospital, Medical University Plovdiv, Bulgaria; Pediatric Neurology Department (Y.V.), Pediatric Neurologist County Clinical Emergency Hospital of Constanta; G. Curteanu Municipal Clinical Hospital Oradea (O.A.I.); Department of Neuroscience (M.V., M. Militaru), Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca; Pediatric Neurology Department (C.B., N.B.), "Alexandru Obregia" Clinical Psychiatry Hospital, Bucharest; "Grigore T Popa" University of Medicine and Pharmacy (B.L., C.R., M.P.); "Sfanta Maria" Children's Hospital (B.L., C.R., M.P.); Pediatric Clinical Hospital Sibiu (G.V.); "Dr. Victor Gomoiu" Children's Hospital (D.E., D. Vasile, M.S.); "Carol Davila" University of Medicine and Pharmacy (M.S., N.B.), Bucharest, Romania; Russian Children Neuromuscular Center (D. Vlodavets), Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia; Department of Neuroscience Neurology and Pediatric Neurology "Iuliu Hatieganu" University of Medicine and Pharmacy (M. Mager), Faculty of Medicine; Pediatric Neurology Department (M. Mager), Emergency Clinical Hospital for Children, Cluj-Napoca, Romania; Department of Basic and Clinical Sciences (T.K.), University of Nicosia, Cyprus; Department of Pediatrics (S.D.), General Hospital Zadar, Zadar, Croatia; Department of Paediatrics (I. Lehman, J.S.F.); University Hospital Centre Zagreb, ; Faculty of Medicine University of Osijek (J.S.F.), Croatia; University Hospital of Neurology and Psychiatry Sveti Naum (V.B.); Clinic of Neurology (V.G.), University Hospital Sofiamed; Sofia University "St. Kliment Ohridski" (V.G.)Bulgaria; Institute of Biomedical Sciences (B.B.), Faculty of Medicine, Vilnius University, Lithuania; Ali Ait Idir Hospital (S.D.B., S.M.-M.), Algiers, Algeria; University of Algiers I. Algeria (S.D.B., S.M.-M.); Center of Genomic Medicine (A.C.E.), University of Medicine and Pharmacy Victor Babes Timisoara; Regional Center of Medical Genetics Timis (A.C.E.), Clinical Emergency Hospital for Children Louis Turcanu Timisoara, Romania; Department of Neurology (A.L., A.P., A.K.-P.), Medical University of Warsaw, Poland; Institute of Neurology (A.S.), Psychiatry and Narkology National Academy of Medical Science of Ukraine; Neurologie (D.B.K., O.D.), CHU Tidjani Damerdji, Tlemcen, Algerie; and BGI-Shenzhen (M.F., Z.L.), Shenzhen, China.

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February 2021

POPDC2 a novel susceptibility gene for conduction disorders.

J Mol Cell Cardiol 2020 08 11;145:74-83. Epub 2020 Jun 11.

Institute for Physiology and Pathophysiology, Vegetative Physiology and Marburg Center for Mind, Brain and Behavior MCMBB, Philipps-University of Marburg, Marburg, Germany. Electronic address:

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August 2020

EMQN best practice guidelines for genetic testing in dystrophinopathies.

Eur J Hum Genet 2020 09 18;28(9):1141-1159. Epub 2020 May 18.

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

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September 2020

Report of a novel ATP7A mutation causing distal motor neuropathy.

Neuromuscul Disord 2019 10 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:

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October 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.

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May 2019

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.

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July 2018

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.

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December 2017

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.

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October 2019

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:

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December 2017

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.

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December 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.

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August 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.

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August 2018

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.

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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:

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October 2016

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

J Cardiovasc Dev Dis 2016 06 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, United Kingdom.

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June 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.

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June 2016

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.

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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:

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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.

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March 2015

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.

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December 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.

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February 2015

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.

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October 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 .

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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 .

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October 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.

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August 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 .

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February 2014

Biodistribution and molecular studies on orally administered nanoparticle-AON complexes encapsulated with alginate aiming at inducing dystrophin rescue in mdx mice.

Biomed Res Int 2013 12;2013:527418. Epub 2013 Dec 12.

Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy ; Department of Medical Sciences, Section of Medical Genetics, University of Ferrara, via Fossato di Mortara 74, 44121 Ferrara, Italy.

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July 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:

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July 2014

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.

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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.

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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.

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September 2012