Accesso
Dott. FRANCESCA GUALANDI
 
Data di nascita: 24/09/1961 Qualifica: DIRIGENTE MEDICO
Reparto: GENETICA MEDICA Numero di telefono dell'ufficio: 0532-974497
Fax dell'ufficio: E-Mail: f.gualandi@ospfe.it
 
Titolo di studio:
Laurea in Medicina e Chitrurgia
 
Altri titoli di studio/professionali:
Dottore di Ricerca in Biotecnologie Specialista in Genetica Medica
 
Esperienze professionali (incarichi):
Attività di consulenza genetica in Neurogenetica Attività di consulenza genetica generale in ambito di CUP esterno provinciale Diagnostica molecolare di patologie neuromuscolari. Diagnostica su RNA. Da ottobre 2012 Incarico in Genetica Medica Molecolare (modulo U.O.). Da ottobre 2012 Vice-Direttore U.O. Genetica Medica
Competenze linguistiche:
Inglese scritto e parlato
Competenze nell'uso delle tecnologie:
Esperienza nell'utilizzo di tecnologie standard e innovative in genetica molecolare.  
Attività didattica:
Docente della scuola di Specializzazione in Genetica Medica
Attività scientifica:
PUBBLICAZIONI In PUBMED ULTIMI 5 ANNI. 2013 1: Martoni E, Petrini S, Trabanelli C, Sabatelli P, Urciuolo A, Selvatici R, D'Amico A, Falzarano S, Bertini E, Bonaldo P, Ferlini A, Gualandi F. Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report. BMC Med Genet. 2013 Jun 5;14:59. doi: 10.1186/1471-2350-14-59. PubMed PMID: 23738969; PubMed Central PMCID: PMC3681647. 2: Neri M, Selvatici R, Scotton C, Trabanelli C, Armaroli A, De Grandis D, Levy N, Gualandi F, Ferlini A. A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation. Neuromuscul Disord. 2013 Jun;23(6):478-82. doi: 10.1016/j.nmd.2013.02.003. Epub 2013 Mar 28. PubMed PMID: 23541687. 3: Pane M, Scalise R, Berardinelli A, D'Angelo G, Ricotti V, Alfieri P, Moroni I, Hartley L, Pera MC, Baranello G, Catteruccia M, Casalino T, Romeo DM, Graziano A, Gandioli C, Bianco F, Mazzone ES, Lombardo ME, Scoto M, Sivo S, Palermo C, Gualandi F, Sormani MP, Ferlini A, Bertini E, Muntoni F, Mercuri E. Early neurodevelopmental assessment in Duchenne muscular dystrophy. Neuromuscul Disord. 2013 Jun;23(6):451-5. doi: 10.1016/j.nmd.2013.02.012. Epub 2013 Mar 25. PubMed PMID: 23535446. 4: Pane M, Messina S, Bruno C, D'Amico A, Villanova M, Brancalion B, Sivo S, Bianco F, Striano P, Battaglia D, Lettori D, Vita GL, Bertini E, Gualandi F, Ricotti V, Ferlini A, Mercuri E. Duchenne muscular dystrophy and epilepsy. Neuromuscul Disord. 2013 Apr;23(4):313-5. doi: 10.1016/j.nmd.2013.01.011. Epub 2013 Mar 7. PubMed PMID: 23465656. 5: Pellegrini C, Zulian A, Gualandi F, Manzati E, Merlini L, Michelini ME, Benassi L, Marmiroli S, Ferlini A, Sabatelli P, Bernardi P, Maraldi NM. Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy. J Cell Physiol. 2013 Jun;228(6):1323-31. doi: 10.1002/jcp.24290. PubMed PMID: 23169061; PubMed Central PMCID: PMC3601437. 2012 1: Ferlini A, Neri M, Gualandi F. The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. NeuromusculDisord. 2013 Jan;23(1):4-14. doi: 10.1016/j.nmd.2012.09.002. Epub 2012 Oct 30.PubMed PMID: 23116935. 2: Bassi E, Falzarano S, Fabris M, Gualandi F, Merlini L, Vattemi G, Perrone D, Marchesi E, Sabatelli P, Sparnacci K, Laus M, Bonaldo P, Rimessi P, Braghetta P, Ferlini A. Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice. J Biomed Biotechnol. 2012;2012:897076. doi: 10.1155/2012/897076. Epub 2012 Oct 2. PubMed PMID: 23091362; PubMed Central PMCID: PMC3471065. 3: Bovolenta M, Erriquez D, Valli E, Brioschi S, Scotton C, Neri M, Falzarano MS, Gherardi S, Fabris M, Rimessi P, Gualandi F, Perini G, Ferlini A. 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. Epub 2012 Sep 21. PubMed PMID: 23028937. 4: Gualandi F, Manzati E, Sabatelli P, Passarelli C, Bovolenta M, Pellegrini C, Perrone D, Squarzoni S, Pegoraro E, Bonaldo P, Ferlini A. ANTISENSE-INDUCED MESSENGER DEPLETION CORRECTS A COL6A2 DOMINANT MUTATION IN ULLRICH MYOPATHY. Hum Gene Ther. 2012 Sep 19. [Epub ahead of print] PubMed PMID: 22992134. 5: Paco S, Ferrer I, Jou C, Cusí V, Corbera J, Torner F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento A, Jimenez-Mallebrera C. Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-κB Signaling. J Neuropathol Exp Neurol. 2012 Sep 12. [Epub ahead of print] PubMed PMID: 22975586. 6:Vattemi G, Neri M, Marini M, Gualandi F, Tonin P, Bertolasi L, Guglielmi V, Catalli C, Novelli G, Ferlini A, Tomelleri G. Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency. Neurologist. 2012 Sep;18(5):306-9. PubMed PMID: 22931740. 7: Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T,Ferlini A. Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. BMC Med Genet. 2012 Aug 16;13(1):73. [Epub ahead of print] PubMed PMID: 22894145. 8: Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, Pane M, Previtali SC, Torrente Y, Gazzerro E, Motta MC, Grieco GS, Napolitano S, Magri F, D'Amico A, Astrea G, Messina S, Sframeli M, Vita GL, Boffi P, Mongini T, Ferlini A, Gualandi F, Soraru' G, Ermani M, Vita G, Battini R, Bertini E, Comi GP, Berardinelli A, Minetti C, Bruno C, Mercuri E, Politano L, Angelini C, Hoffman EP, Pegoraro E. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology. 2012 Jun 27. [Epub ahead of print] PubMed PMID: 22744661. 9: Voermans NC, Laan AE, Oosterhof A, van Kuppevelt TH, Drost G, Lammens M, Kamsteeg EJ, Scotton C, Gualandi F, Guglielmi V, van den Heuvel L, Vattemi G, van Engelen BG. Brody syndrome: A clinically heterogeneous entity distinct from Brody disease: A review of literature and a cross-sectional clinical study in 17 patients. Neuromuscul Disord. 2012 Jun 14. [Epub ahead of print] PubMed PMID: 22704959. 10: Pane M, Lombardo ME, Alfieri P, D'Amico A, Bianco F, Vasco G, Piccini G, Mallardi M, Romeo DM, Ricotti V, Ferlini A, Gualandi F, Vicari S, Bertini E, Berardinelli A, Mercuri E. Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation. J Pediatr. 2012 May 4. [Epub ahead of print] PubMed PMID: 22560791. 11: Sabatelli P, Gualandi F, Gara SK, Grumati P, Zamparelli A, Martoni E, Pellegrini C, Merlini L, Ferlini A, Bonaldo P, Maraldi NM, Paulsson M, Squarzoni S, Wagener R. Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. Matrix Biol. 2012 Apr;31(3):187-96. Epub 2011 Dec 30. PubMed PMID: 22226732; PubMed Central PMCID: PMC3315014. 12: Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi S, Perini G, Gualandi F, Ferlini A. The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. BMC Med Genet. 2012 Mar 28;13:20. PubMed PMID: 22455600; PubMed Central PMCID: PMC3331845. 13: Bovolenta M, Scotton C, Falzarano MS, Gualandi F, Ferlini A. Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. Hum Mutat. 2012 Mar;33(3):572-81. doi: 10.1002/humu.22017. Epub 2012 Jan 25. PubMed PMID: 22223181 2011 1: Bertini E, D'Amico A, Gualandi F, Petrini S. Congenital muscular dystrophies: a brief review. Semin Pediatr Neurol. 2011 Dec;18(4):277-88. PubMed PMID: 22172424. 2: Vattemi G, Neri M, Piffer S, Vicart P, Gualandi F, Marini M, Guglielmi V, Filosto M, Tonin P, Ferlini A, Tomelleri G. Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. Acta Myol. 2011 Oct;30(2):121-6. PubMed PMID: 22106715; PubMed Central PMCID: PMC3235861. 3: Merlini L, Sabatelli P, Armaroli A, Gnudi S, Angelin A, Grumati P, Michelini ME, Franchella A, Gualandi F, Bertini E, Maraldi NM, Ferlini A, Bonaldo P, Bernardi P. Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. Oxid Med Cell Longev. 2011;2011:139194. Epub 2011 Oct 17. PubMed PMID: 22028947; PubMed Central PMCID: PMC3199070. 4: Sabatelli P, Palma E, Angelin A, Squarzoni S, Urciuolo A, Pellegrini C, Tiepolo T, Bonaldo P, Gualandi F, Merlini L, Bernardi P, Maraldi NM. Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by Collagen VI myopathies. J Cell Physiol. 2011 Sep 27. doi: 10.1002/jcp.23039. [Epub ahead of print] PubMed PMID: 21953374. 5: Gualandi F, Curci R, Sabatelli P, Martoni E, Bovolenta M, Maraldi MN, Merlini L, Ferlini AA. Macrophages: a minimally invasive tool for monitoring collagen VI myopathies. Muscle Nerve. 2011 Jul;44(1):80-4. doi: 10.1002/mus.21999. Epub 2011 Apr 12. PubMed PMID: 21488057. 6: Sensi A, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A. LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. Am J Med Genet A. 2011 May;155A(5):1096-101. doi: 10.1002/ajmg.a.33962. Epub 2011 Apr 7. PubMed PMID: 21480479. 2010 (10) 1:Sabatelli P, Gara SK, Grumati P, Urciuolo A, Gualandi F, Curci R, Squarzoni S, Zamparelli A, Martoni E, Merlini L, Paulsson M, Bonaldo P, Wagener R. Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies. J Invest Dermatol. 2011 Jan;131(1):99-107. Epub 2010 Sep 30. PubMed PMID: 20882040. 2: Tasca G, Mirabella M, Broccolini A, Monforte M, Sabatelli M, Biscione GL, Piluso G, Gualandi F, Tonali PA, Udd B, Ricci E. An Italian case of hereditarymyopathy with early respiratory failure (HMERF) not associated with the titinkinase domain R279W mutation. Neuromuscul Disord. 2010 Aug 12. [Epub ahead ofprint] PubMed PMID: 20708934. 3: Rimessi P, Fabris M, Bovolenta M, Bassi E, Falzarano S, Gualandi F, Rapezzi C, Coccolo F, Perrone D, Medici A, Ferlini A. Antisense Modulation of Both Exonic and Intronic Splicing Motifs Induces Skipping of a DMD Pseudo-Exon Responsible for X-Linked Dilated Cardiomyopathy. Hum Gene Ther. 2010 Aug 2. [Epub ahead of print] PubMed PMID: 20486769. 4: Ferlini A, Bovolenta M, Neri M, Gualandi F, Balboni A, Yuryev A, Salvi F, Gemmati D, Liboni A, Zamboni P. 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 Med Genet. 2010 Apr 28;11:64. PubMed PMID: 20426824; PubMed Central PMCID: PMC2880319. 5: Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. 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 Med Genet. 2010 Mar 19;11:44. PubMed PMID: 20302629; PubMed Central PMCID: PMC2850895. 6:Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M, Messina S, Gualandi F, Ricci E, Rutherford M, Muntoni F. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol. 2010 Feb; 67(2):201-8. PubMed PMID: 20225280. 7: Allamand V, Merlini L, Bushby K; Consortium for Collagen VI-Related Myopathies. 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. Neuromuscul Disord. 2010 May;20(5):346-54. Epub 2010 Mar 7. PubMed PMID: 20211562. 8:Vattemi G, Gualandi F, Oosterhof A, Marini M, Tonin P, Rimessi P, Neri M, Guglielmi V, Russignan A, Poli C, van Kuppevelt TH, Ferlini A, Tomelleri G. Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation. J Neuropathol Exp Neurol. 2010 Mar;69(3):246-52. PubMed PMID: 20142766. 9:Bovolenta M, Rimessi P, Dolcini B, Ravani A, Ferlini A, Gualandi F. Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization. Clin Genet. 2010 May;77(5):503-6. Epub 2009 Dec 10. PubMed PMID: 20002456. 10:Ferlini A, Sabatelli P, Fabris M, Bassi E, Falzarano S, Vattemi G, Perrone D, Gualandi F, Maraldi NM, Merlini L, Sparnacci K, Laus M, Caputo A, Bonaldo P, Braghetta P, Rimessi P. Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes. Gene Ther. 2010 Mar; 17(3):432-8. Epub 2009 Nov 12. PubMed PMID: 19907501. 2009 1: Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L. Autosomal recessive Bethlem myopathy. Neurology. 2009 Dec 1;73(22):1883-91. PubMed PMID: 19949035. 2: Spitali P, Rimessi P, Fabris M, Perrone D, Falzarano S, Bovolenta M, Trabanelli C, Mari L, Bassi E, Tuffery S, Gualandi F, Maraldi NM, Sabatelli-Giraud P, Medici A, Merlini L, Ferlini A. Exon skipping-mediateddystrophin reading frame restoration for small mutations. Hum Mutat. 2009 Nov;30(11):1527-34. PubMed PMID: 19760747. 3: Vattemi G, Tonin P, Neri M, Marini M, Gualandi F, Guglielmi V, Ferlini A, Tomelleri G. Calpain 3 deficiency presenting as fibre type disproportion. Neuropathol Appl Neurobiol. 2009 Dec;35(6):614-7. Epub 2009 Apr 15. PubMed PMID: 19490426. 4: Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A,Gualandi F. Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. Hum Mutat. 2009 May;30(5):E662-72. PubMed PMID: 19309692. 5: Rimessi P, Sabatelli P, Fabris M, Braghetta P, Bassi E, Spitali P, Vattemi G, Tomelleri G, Mari L, Perrone D, Medici A, Neri M, Bovolenta M, Martoni E, Maraldi NM, Gualandi F, Merlini L, Ballestri M, Tondelli L, Sparnacci K, Bonaldo P, Caputo A, Laus M, Ferlini A. Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse. Mol Ther. 2009 May;17(5):820-7. Epub 2009 Feb 24. PubMed PMID: 19240694; PubMed Central PMCID: PMC2835127. 6: Ghezzi D, Viscomi C, Ferlini A, Gualandi F, Mereghetti P, DeGrandis D, Zeviani M. Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet. 2009 Mar 15;18(6):1058-64. Epub 2009 Jan 5. PubMed PMID: 19124534. 7: Gualandi F, Neri M, Bovolenta M, Martoni E, Rimessi P, Fini S, Spitali P, Fabris M, Pane M, Angelini C, Mora M, Morandi L, Mongini T, Bertini E, Ricci E, Vattemi G, Mercuri E, Merlini L, Ferlini A. Transcriptional behavior of DMD gene duplications in DMD/BMD males. Hum Mutat. 2009 Feb;30(2):E310-9. PubMed PMID: 18853462.
Interessi clinici e/o scientifici:
Attività clinica di consulenza genetica in ambito di Neurogenetica, di cui è principale referente in ambito di U.O. (ambulatorio dedicato) Per il periodo 2012-2016, attività di ricerca in ambito di patologie neuromuscolari nell'ambito del progetto Europeo collaborativo (Large scale integrating project) finanziato nell’ambito del programma FP7 (HEALTH.2012.2.1.1-1-B: Clinical utility of -Omics for better diagnosis of rare diseases) denominato NEUROMICS (acronimo per Integrated European –Omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases), coordinato dalla Università di Tubinga, Germania (partner Prof. A Ferlini). Per il periodo 2012-2014, attività di ricerca in ambito del progetto: Regione Emilia-Romagna - Programma di ricerca Regione-Università 2010-2012 - Area 1°: strategic programmes; Area tematica: Rare Diseases/Genomic Medicine; titolo del progetto: “Next-generation sequencing and gene therapy to diagnose and cure rare diseases in RER” (partner Prof.ssa A Ferlini). Per il periodo 2011-2014, attività nell'ambito del progetto transfrontaliero SIGN (acromino per Slovene - Italian Genetic Network) (partner U.O. Genetica Medica - prof.ssa Ferlini). Attività nell'ambito di un progetto finanziato da Parent Project-Italia per la diagnostica delle distrofinopatie.