Staff Profile
Professor Giorgio Tasca
Clinical Prof of Neuromuscular Science
- Telephone: +44 (0) 1912418602
- Address: John Walton Muscular Dystrophy Research Center
Center for Life
Central Parkway
NE13BZ
Newcastle Upon Tyne, UK
I am Professor of Neuromuscular Science at the John Walton Muscular Dystrophy Research Centre, Newcastle University, since January 2023.
I received my residency in Neurology in 2011 and completed a PhD in Neuroscience in 2014 at the Catholic University School of Medicine in Rome, Italy. In 2012-2013 I was research fellow at the Folkhälsan Institute of Genetics, Helsinki and at the Neuromuscular Research Center, Tampere University, Finland, and later on at the Unit of Neuromuscular and Neurodegenerative Disorders of the Bambino Gesù Children’s Research Hospital, Rome. From 2015 to 2022 I worked at the Unit of Neurology of the Fondazione Policlinico Universitario “A. Gemelli” IRCCS Hospital in Rome.
I am vice-chair of the Neuromuscular Imaging group of the Euro-NMD project (European Reference Network), Associate Editor of the journals Neuromuscular Disorders and Frontiers in Neurology-Neuromuscular Diseases, and leader of the Imaging Working group of the FSHD European Trial Network. I am also current member of the Limb-Girdle Muscular Dystrophy Expert Panel of the Clinical Genome Resource Consortium, and of the European Neuromuscular Center (ENMC) Research and Mentoring Program Committees. Finally, I have recently been awarded an Academy of Medical Sciences (AMS) Professorship.
...
My clinical and research activity has been always focused on neuromuscular disorders and more specifically on the diagnosis and follow-up of genetic myopathies and muscular dystrophies, which are disorders leading to progressive degeneration of the skeletal muscle.
During my PhD I developed an interest in muscle imaging, especially in the description of muscle MRI “patterns” of involvement that could help in the diagnostic workup of known and novel diseases. With my research group and in the context of international consortia, such as the one established by the MYO-MRI COST action, I led projects devoted to the identification of the imaging patterns in several different muscle diseases, such as Facioscapulohumeral muscular dystrophy (FSHD) type 1 and 2, dystrophinopathies, distal myopathies, inclusion body myositis and limb girdle muscular dystrophies. This clinical research effort is still ongoing with planned projects to study the patterns of involvement of still uncharacterized myopathies, also exploiting artificial intelligence. Since 2019, I have been also co-leading the Italian Network on Myofibrillar and Distal myopathies (ITA-MeD), endorsed by the Italian Association of Myology (AIM), and another line of research regards the collection and characterization of the patients affected by these rare disorders establishing genotype-phenotype correlations.
In parallel to this, a major focus of my translational research has been the discovery of imaging and, more recently, tissue and circulating biomarkers in a particular form of muscular dystrophy, Facioscapulohumeral muscular dystrophy (FSHD).
With the aim to better elucidate the pathomechanisms underlying this disease, I conducted studies to clarify the meaning and the value of the early muscle MRI changes preceding irreversible muscle damage, and to characterize these lesions at the molecular level, taking also advantage from the implementation of mini-invasive techniques other than muscle biopsy. We implemented an innovative protocol of long-term muscle microdialysis, which allowed us the in vivo sampling of the skeletal muscle intercellular milieu with the aim to identify inflammatory cytokines and other proteins in the interstitial fluid through either targeted or holistic (proteomic) approaches. We described the existence of an inflammatory milieu that precedes (and possibly promotes) muscle degeneration through still obscure but likely disease-specific mechanisms. For my research on FSHD I was awarded the Patricia Salustri 2015 prize of the Association “Amis FSH” and the 2021 FSHD Society Young Investigator Award.
Moreover, FSHD is a slowly progressive disease and the possibility of developing sensitive outcome measures and biomarkers reflecting disease activity and progression is of paramount importance now that therapeutic strategies are approaching the clinical scenario. Therefore, my main actual goal is to fully elucidate the cellular and molecular pathways driving muscle wasting in FSHD implementing cutting-edge omic technologies directly to the study of patient derived tissue samples. A specific focus is devoted to the role of inflammation in active disease, since this could lead to targeted treatments, and to the identification of molecules that could constitute useful biomarkers, ideally mechanistic in nature.
-
Articles
- Monforte M, Torchia E, Bortolani S, Ravera B, Ricci E, Silvestri G, Servidei S, Primiano G, Mirabella M, Sabatelli M, Mercuri E, Franceschi F, Calabresi P, Covino M, Tasca G. Hospital admissions from the emergency department of adult patients affected by myopathies. European Journal of Neurology 2024, epub ahead of print.
- Strafella C, Caputo V, Bortolani S, Torchia E, Megalizzi D, Trastulli G, Monforte M, Colantoni L, Caltagirone C, Ricci E, Tasca G, Cascella R, Giardina E. Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD. Frontiers in Genetics 2023, 14, 1235589.
- Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies. Genes 2023, 14(2), 298.
- Colelli G, Barzaghi L, Paoletti M, Monforte M, Bergsland N, Manco G, Deligianni X, Santini F, Ricci E, Tasca G, Mira A, Figini S, Pichiecchio A. Radiomics and machine learning applied to STIR sequence for prediction of quantitative parameters in facioscapulohumeral disease. Frontiers in Neurology 2023, 14, 1105276.
- Esteller D, Morrow J, Alonso-Perez J, Reyes D, Carbayo A, Bisogni G, Cateruccia M, Monforte M, Tasca G, Alangary A, Marini-Bettolo C, Sabatelli M, Laura M, Ramdharry G, Bolano-Diaz C, Turon-Sans J, Topf A, Guglieri M, Rossor AM, Olive M, Bertini E, Straub V, Reilly MM, Rojas-Garcia R, Diaz-Manera J. Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis. Neuromuscular Disorders 2023, 33(10), 744-753.
- Ragozzino E, Bortolani S, Di Pietro L, Papait A, Parolini O, Monforte M, Tasca G, Ricci E. Muscle fibrosis as a prognostic biomarker in facioscapulohumeral muscular dystrophy: a retrospective cohort study. Acta Neuropathologica Communications 2023, 11, 165.
- Leung DG, Kinoshita J, Arjomand J, Dumonceaux J, Butterfield RJ, Campbell AE, Chen Y-W, Magdinier F, Sansone V, Tasca G, Vassetzky Y, Wallace LM. Meeting report: The 2022 FSHD International Research Congress. Neuromuscular Disorders 2023, 33(2), 196-198.
- Panicucci C, Casalini S, Damasio BM, Brolatti N, Pedemonte M, Biolcati Rinaldi A, Morando S, Doglio L, Raffaghello L, Fiorillo C, Zara F, Tasca G, Bruno C. Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients. Brain and Development 2023, 45(5), 306-313.
- Swan AH, Schindler RFR, Savarese M, Mayer I, Rinne S, Bleser F, Schanzer A, Hahn A, Sabatelli M, Perna F, Chapman K, Pfuhl M, Spivey AC, Decher N, Udd B, Tasca G, Brand T. Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Acta Neuropathologica Communications 2023, 11, 4.
- Suarez-Calvet X, Fernandez-Simon E, Natera D, Jou C, Pinol-Jurado P, Villalobos E, Ortez C, Monceau A, Schiava M, Codina A, Verdu-Diaz J, Clark J, Laidler Z, Mehra P, Gokul-Nath R, Alonso-Perez J, Marini-Bettolo C, Tasca G, Straub V, Guglieri M, Nascimento A, Diaz-Manera J. Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations. Cell Death and Disease 2023, 14(9), 596.
- Maceroni M, Monforte M, Cariola R, Falsini B, Rizzo S, Savastano MC, Martelli F, Ricci E, Bortolani S, Tasca G, Minnella AM. Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series. Diagnostics 2023, 13(5), 982.
- Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles R-N, Dibowski B, Venturelli N, Laforet P, Alonso-Perez J, Olive M, Dominguez-Gonzalez C, Paradas C, Velez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pal E, Malfatti E, Souvannanorath S, Alonso-Jimenez A, de Ridder W, De Smet E, Papadimas G, Xirou S, Papadopoulos C, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernandez-Torron R, Lopez de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Diaz J, Ikenaga C, Lloyd TE, Nishimori Y, Nishino I, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Straub V, Sasaki R, Marini-Bettolo C, Guglieri M, Stojkovic T, Carlier RY, Diaz-Manera J. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis. Journal of Neurology 2023, 270, 5849-5865.
- Mohassel P, Yun P, Syeda S, Batra A, Bradley AJ, Donkervoort S, Monges S, Cohen JS, Leung DG, Munell F, Ortez C, Sánchez-Montáñez A, Karachunski P, Brandsema J, Medne L, Chaudhry V, Tasca G, Foley AR, Udd B, Arai AE, Walter GA, Bönnemann CG. A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy. Annals of Clinical and Translational Neurology 2023, 10(8), 1442-1455.
- Monforte M, Attarian S, Vissing J, Diaz-Manera J, Tasca G. 265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands. Neuromuscular Disorders 2023, 33(1), 65-75.
- Torchia E, Lucchini M, Bortolani S, Monforte M, Garibaldi M, Mirabella M, Tartaglione T, Ricci E, Tasca G. Upper body involvement in GNE myopathy assessed by muscle imaging. Neuromuscular Disorders 2022, 32(5), 410-418.
- Bisogni G, Romano A, Conte A, Tasca G, Bernardo D, Luigetti M, Di Paolantonio A, Fabrizi GM, Patanella AK, Meleo E, Sabatelli M. Thr124Met myelin protein zero mutation mimicking motor neuron disease. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 2022, 23(3-4), 299-304.
- Di Pietro L, Giacalone F, Ragozzino E, Saccone V, Tiberio F, De Bardi M, Picozza M, Borsellino G, Lattanzi W, Guadagni E, Bortolani S, Tasca G, Ricci E, Parolini O. Non-myogenic mesenchymal cells contribute to muscle degeneration in facioscapulohumeral muscular dystrophy patients. Cell Death and Disease 2022, 13(9), 793.
- Ranu N, Laitila J, Dugdale HF, Mariano J, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Fiorillo C, Zanoteli E, Auranen M, Jokela M, Tasca G, Claeys KG, Voermans NC, Palmio J, Huovinen S, Moggio M, Beck TN, Kontrogianni-Konstantopoulos A, Granzier H, Ochala J. NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy. Acta Neuropathologica Communications 2022, 10(1), 185.
- Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Avila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-De Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jimenez A, Kostera-Pruszczyk A, Miralles F, Shin J-H, Bevilacqua JA, Olive M, Vorgerd M, Kley R, Brady S, Williams T, Dominguez-Gonzalez C, Papadimas GK, Warman J, Claeys KG, De Visser M, Muelas N, Laforet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, Garcia-Garcia J, Pal E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J. Genotype-phenotype correlations in valosin-containing protein disease: A retrospective muticentre study. Journal of Neurology, Neurosurgery and Psychiatry 2022, 93(10), 1099-1111.
- Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study. Acta Neuropathologica Communications 2022, 10(1), 54.
- van den Bersselaar LR, Heytens L, Silva HCA, Reimann J, Tasca G, Diaz-Cambronero O, Lokken N, Hellblom A, Hopkins PM, Rueffert H, Bastian B, Vilchez JJ, Gillies R, Johannsen S, Veyckemans F, Muenster T, Klein A, Litman R, Jungbluth H, Riazi S, Voermans NC, Snoeck MMJ. European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. European Journal of Neurology 2022, 29(12), 3486-3507.
- Deligianni X, Santini F, Paoletti M, Solazzo F, Bergsland N, Savini G, Faggioli A, Germani G, Monforte M, Ricci E, Tasca G, Pichiecchio A. Dynamic magnetic resonance imaging of muscle contraction in facioscapulohumeral muscular dystrophy. Scientific Reports 2022, 12(1), 7250.
- Monforte M, Bortolani S, Torchia E, Cristiano L, Laschena F, Tartaglione T, Ricci E, Tasca G. Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning. Journal of Neurology 2022, 269(4), 2055-2063.
- Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gomez Garcia de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforet P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zidkova J, Leboucq N, Lokken N, Sanchez-Montanez A, Ortega X, Kyncl M, Metay C, Gomez-Andres D, Carlier RY. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort. Journal of Neurology 2022, 269(5), 2414-2429.
- Agosti A, Shaqiri E, Paoletti M, Solazzo F, Bergsland N, Colelli G, Savini G, Muzic SI, Santini F, Deligianni X, Diamanti L, Monforte M, Tasca G, Ricci E, Bastianello S, Pichiecchio A. Deep learning for automatic segmentation of thigh and leg muscles. Magnetic Resonance Materials in Physics, Biology and Medicine 2022, 35(3), 467-483.
- Caputo V, Megalizzi D, Fabrizio C, Termine A, Colantoni L, Bax C, Gimenez J, Monforte M, Tasca G, Ricci E, Caltagirone C, Giardina E, Cascella R, Strafella C. D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients. Cells 2022, 11, 24.
- Felisaz PF, Colelli G, Ballante E, Solazzo F, Paoletti M, Germani G, Santini F, Deligianni X, Bergsland N, Monforte M, Tasca G, Ricci E, Bastianello S, Figini S, Pichiecchio A. Texture analysis and machine learning to predict water T2 and fat fraction from non-quantitative MRI of thigh muscles in Facioscapulohumeral muscular dystrophy. European Journal of Radiology 2021, 134, 109460.
- Corasolla Carregari V, Monforte M, Di Maio G, Pieroni L, Urbani A, Ricci E, Tasca G. Proteomics of Muscle Microdialysates Identifies Potential Circulating Biomarkers in Facioscapulohumeral Muscular Dystrophy. International Journal of Molecular Sciences 2021, 22(1), 290.
- Panicucci C, Baratto S, Raffaghello L, Tonin P, D'Amico A, Tasca G, Traverso M, Fiorillo C, Minetti C, Previtali SC, Pegoraro E, Bruno C. Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies. Clinical neuropathology 2021, 40(6), 310-318.
- Lucchini M, Bortolani S, Monforte M, Papacci M, Ricci E, Mirabella M, Tasca G. Long-term Follow-up and Muscle Imaging Findings in Brachio-Cervical Inflammatory Myopathy. Neurology(R) neuroimmunology & neuroinflammation 2021, 8(4).
- Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, Jungbluth H, Fattori F, Boland A, O'Connor E, Horvath R, Barresi R, Lochmuller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G, Roos A. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain 2021, 144(8), 2427-2442.
- Torelli S, Scaglioni D, Sardone V, Ellis MJ, Domingos J, Jones A, Feng L, Chambers D, Eastwood DM, Leturcq F, Yaou RB, Urtizberea A, Sabouraud P, Barnerias C, Stojkovic T, Ricci E, Beuvin M, Bonne G, Sewry CA, Willis T, Kulshrestha R, Tasca G, Phadke R, Morgan JE, Muntoni F. High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients. Journal of Neuropathology and Experimental Neurology 2021, 80(10), 955-965.
- Santini F, Deligianni X, Paoletti M, Solazzo F, Weigel M, de Sousa PL, Bieri O, Monforte M, Ricci E, Tasca G, Pichiecchio A, Bergsland N. Fast Open-Source Toolkit for Water T2 Mapping in the Presence of Fat From Multi-Echo Spin-Echo Acquisitions for Muscle MRI. Frontiers in Neurology 2021, 12, 630387.
- Lucchini M, Maggi L, Pegoraro E, Filosto M, Rodolico C, Antonini G, Garibaldi M, Valentino ML, Siciliano G, Tasca G, De Arcangelis V, De Fino C, Mirabella M. Anti-cN1A antibodies are associated with more severe dysphagia in sporadic inclusion body myositis. Cells 2021, 10(5), 1146.
- Alonso-Perez J, Gonzalez-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, de Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuss A, Lokken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andres D, Munell F, Costa-Comellas L, Haberlova J, Rohlenova M, Elke DV, de Bleecker JL, Dominguez-Gonzalez C, Tasca G, Weiss C, Deconinck N, Fernandez-Torron R, de Munain AL, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernandez JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Diaz-Manera J. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain 2020, 143(9), 2696-2708.
- Brogna C, Cristiano L, Verdolotti T, Pichiecchio A, Cinnante C, Sansone V, Sconfienza LM, Berardinelli A, Garibaldi M, Antonini G, Pane M, Pera MC, Antonaci L, Ficociello L, Albamonte E, Tasca G, Begliuomini C, Tartaglione T, Maggi L, Govoni A, Comi G, Colosimo C, Mercuri E. MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients. Journal of Neurology 2020, 267(4), 898-912.
- Visuttijai K, Hedberg-Oldfors C, Thomsen C, Glamuzina E, Kornblum C, Tasca G, Hernandez-Lain A, Sandstedt J, Dellgren G, Roach P, Oldfors A. Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage. Journal of Clinical Endocrinology and Metabolism 2020, 105(2), 557–566.
- Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Diaz-Manera J, Ehrstedt C, Rojas-Garcia R, Saenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Valipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vilchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao C-B, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Genotype–phenotype correlations in recessive titinopathies. Genetics in Medicine 2020, 22, 2029-2040.
- Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Lokken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kyncl M, Walter MC, Carlier RY. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). Journal of Neurology 2020, 267(1), 45-56.
- Mauri E, Abati E, Musumeci O, Rodolico C, D'Angelo MG, Mirabella M, Lucchini M, Bello L, Pegoraro E, Maggi L, Manneschi L, Gemelli C, Grandis M, Zuppa A, Massucco S, Benedetti L, Caponnetto C, Schenone A, Prelle A, Previtali SC, Scarlato M, D'Amico A, Bertini E, Pennisi EM, de Giglio L, Pane M, Mercuri E, Mongini T, Ricci F, Berardinelli A, Astrea G, Lenzi S, Battini R, Ricci G, Torri F, Siciliano G, Santorelli FM, Ariatti A, Filosto M, Passamano L, Politano L, Scutifero M, Tonin P, Fossati B, Panicucci C, Bruno C, Ravaglia S, Monforte M, Tasca G, Ricci E, Petrucci A, Santoro L, Ruggiero L, Barp A, Albamonte E, Sansone V, Gagliardi D, Costamagna G, Govoni A, Magri F, Brusa R, Velardo D, Meneri M, Sciacco M, Corti S, Bresolin N, Moroni I, Messina S, Muzio AD, Nigro V, Liguori R, Antonini G, Toscano A, Minetti C, Comi GP. Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase. Acta Myologica 2020, 39(2), 57-66.
- Giacomucci G, Monforte M, Diaz-Manera J, Mul K, Fernandez Torron R, Maggi L, Marini Bettolo C, Dahlqvist JR, Haberlova J, Camano P, Gros M, Tartaglione T, Cristiano L, Gerevini S, Calandra P, Deidda G, Giardina E, Sacconi S, Straub V, Vissing J, Van Engelen B, Ricci E, Tasca G. Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging. European Journal of Neurology 2020, 27(12), 2604-2615.
- Maggi L, Brugnoni R, Canioni E, Tonin P, Saletti V, Sola P, Piccinelli SC, Colleoni L, Ferrigno P, Pini A, Masson R, Manganelli F, Lietti D, Vercelli L, Ricci G, Bruno C, Tasca G, Pizzuti A, Padovani A, Fusco C, Pegoraro E, Ruggiero L, Ravaglia S, Siciliano G, Morandi L, Dubbioso R, Mongini T, Filosto M, Tramacere I, Mantegazza R, Bernasconi P. Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients. Frontiers in Neurology 2020, 11, 646.
- Verdú-Díaz J, Alonso-Pérez J, Nuñez-Peralta C, Tasca G, Vissing J, Straub V, Fernández-Torrón R, Llauger J, Illa I, Díaz-Manera J. Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies. Neurology 2020, 94(10), e1094-e1102.
- D'Amico A, Fattori F, Nicita F, Barresi S, Tasca G, Verardo M, Pizzi S, Moroni I, De Mitri F, Frongia A, Pane M, Mercuri E, Tartaglia M, Bertini E. A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. Frontiers in Genetics 2020, 11, 565868.
- Tasca G, Lattante S, Marangi G, Conte A, Bernardo D, Bisogni G, Mandich P, Zollino M, Ragozzino E, Udd B, Sabatelli M. SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum. European Journal of Neurology 2020, 27(7), 1304-1309.
- Monforte M, Laschena F, Ottaviani P, Bagnato MR, Pichiecchio A, Tasca G, Ricci E. Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging. Journal of Cachexia, Sarcopenia and Muscle 2019, 10(6), 1258-1265.
- Strafella C, Caputo V, Galota RM, Campoli G, Bax C, Colantoni L, Minozzi G, Orsini C, Politano L, Tasca G, Novelli G, Ricci E, Giardina E, Cascella R. The variability of SMCHD1 gene in FSHD patients: Evidence of new mutations. Human Molecular Genetics 2019, 28(23), 3912-3920.
- Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nunez-Peralta C, Horlings CGC, Van Engelen BGM, Olive M, Gonzalez L, Verges-Gil E, Paradas C, Marquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum A-SV, Garcia-Sobrino T, Pardo J, Garcia-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martinez A, Marini-Bettolo C, Straub V, Gutierrez G, Martin MA, Moris G, Fernandez-Torron R, Lopez De Munain A, Cortes-Vicente E, Querol L, Rojas-Garcia R, Illa I, Diaz-Manera J. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy. Journal of Neurology, Neurosurgery and Psychiatry 2019, 90(5), 576-585.
- Tasca G, Modoni A, Nicoletti T, Monforte M, Cuccaro A, Ricci E. Muscle hypertrophy in amyloid myopathy. Neuromuscular Disorders 2019, 29(2), 150-151.
- Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Monforte M, Tasca G, Moggio M, Figeac N, Zammit PS, Jungbluth H, Fiorillo C, Vissing J, Witting N, Granzier H, Zanoteli E, Hardeman EC, Wallgren-Pettersson C, Ochala J. Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy. Acta Neuropathologica 2019, 138(3), 477-495.
- Van Tol W, Van Scherpenzeel M, Alsady M, Riemersma M, Hermans E, Kragt E, Tasca G, Kamsteeg E-J, Pennings M, Van Beusekom E, Vermeulen JR, Van Bokhoven H, Voermans NC, Willemsen MA, Ashikov A, Lefeber DJ. Cytidine diphosphate-ribitol analysis for diagnostics and treatment monitoring of cytidine diphosphate-L-Ribitol pyrophosphorylase a muscular dystrophy. Clinical Chemistry 2019, 65(10), 1295-1306.
- Jokela M, Tasca G, Vihola A, Mercuri E, Jonson P-H, Lehtinen S, Valipakka S, Pane M, Donati M, Johari M, Savarese M, Huovinen S, Isohanni P, Palmio J, Hartikainen P, Udd B. An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy. Neurology 2019, 92(14), E1600-E1609.
- Monforte M, Primiano G, Silvestri G, Mirabella M, Luigetti M, Cuccagna C, Ricci E, Servidei S, Tasca G. Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort. Journal of Neurology 2018, 265(3), 542-551.
- Nicita F, Tasca G, Nardella M, Bellacchio E, Camponeschi I, Vasco G, Schirinzi T, Bertini E, Zanni G. Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia. Cerebellum 2018, 17(4), 499-503.
- Castiglioni C, Fattori F, Udd B, De Los Angeles Avaria M, Suarez B, D'Amico A, Malandrini A, Carrozzo R, Verrigni D, Bertini E, Tasca G. Neuromyopathy with congenital cataracts and glaucoma: A distinct syndrome caused by POLG variants /692/308 /692/699 article. European Journal of Human Genetics 2018, 26(3), 367-373.
- Tasca G, Monforte M, Corbi M, Granata G, Lucchetti D, Sgambato A, Ricci E. Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy. Molecular Neurobiology 2018, 55(4), 2959-2966.
- Tasca G, Monforte M, Diaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Lokken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlova J, Magnano G, Walter MC, Quijano-Roy S, Carlier R-Y, van Engelen BGM, Vissing J, Straub V, Bonnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C. MRI in sarcoglycanopathies: a large international cohort study. Journal of Neurology, Neurosurgery, and Psychiatry 2018, 89(1), 72-77.
- Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evila A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Interpreting genetic variants in titin in patients with muscle disorders. JAMA Neurology 2018, 75(5), 557-565.
- Brogna C, Cristiano L, Tartaglione T, Verdolotti T, Fanelli L, Ficociello L, Tasca G, Battini R, Coratti G, Forcina N, De Santis R, Norcia G, Carnicella S, Colosimo C, Carlier P, Pane M, Mercuri E. Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy. PLoS ONE 2018, 13(6), e0199222.
- Fattori F, Fiorillo C, Rodolico C, Tasca G, Verardo M, Bellacchio E, Pizzi S, Ciolfi A, Fagiolari G, Lupica A, Broda P, Pedemonte M, Moggio M, Bruno C, Tartaglia M, Bertini E, D'Amico A. Expanding the histopathological spectrum of CFL2-related myopathies. Clinical Genetics 2018, 93(6), 1234-1239.
- Vihola A, Luque H, Savarese M, Penttila S, Lindfors M, Leturcq F, Eymard B, Tasca G, Brais B, Conte T, Charton K, Richard I, Udd B. Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy. Neuropathology and Applied Neurobiology 2018, 44(5), 441-448.
- Magri F, Nigro V, Angelini C, Mongini T, Mora M, Moroni I, Toscano A, D'angelo MG, Tomelleri G, Siciliano G, Ricci G, Bruno C, Corti S, Musumeci O, Tasca G, Ricci E, Monforte M, Sciacco M, Fiorillo C, Gandossini S, Minetti C, Morandi L, Savarese M, Fruscio GD, Semplicini C, Pegoraro E, Govoni A, Brusa R, Del Bo R, Ronchi D, Moggio M, Bresolin N, Comi GP. The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis. Muscle and Nerve 2017, 55(1), 55-68.
- Evila A, Palmio J, Vihola A, Savarese M, Tasca G, Penttila S, Lehtinen S, Jonson PH, De Bleecker J, Rainer P, Auer-Grumbach M, Pouget J, Salort-Campana E, Vilchez JJ, Muelas N, Olive M, Hackman P, Udd B. Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. Molecular Neurobiology 2017, 54(9), 7212-7223.
- D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E. Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders. European Journal of Paediatric Neurology 2017, 21(6), 873-883.
- Di Pietro L, Baranzini M, Berardinelli MG, Lattanzi W, Monforte M, Tasca G, Conte A, Logroscino G, Michetti F, Ricci E, Sabatelli M, Bernardini C. Potential therapeutic targets for ALS: MIR206, MIR208b and MIR499 are modulated during disease progression in the skeletal muscle of patients. Scientific Reports 2017, 7(1), 9538.
- Verrigni D, Diodato D, Di Nottia M, Torraco A, Bellacchio E, Rizza T, Tozzi G, Verardo M, Piemonte F, Tasca G, D'Amico A, Bertini E, Carrozzo R. Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect. Clinical Genetics 2017, 91(6), 918-923.
- Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM. Muscle MRI in neutral lipid storage disease (NLSD). Journal of Neurology 2017, 264(7), 1334-1342.
- Marangi G, Lattante S, Doronzio PN, Conte A, Tasca G, Monforte M, Patanella AK, Bisogni G, Meleo E, La Spada S, Zollino M, Sabatelli M. Matrin 3 variants are frequent in Italian ALS patients. Neurobiology of Aging 2017, 49, 218.e1-218.e7.
- Teveroni E, Pellegrino M, Sacconi S, Calandra P, Cascino I, Farioli-Vecchioli S, Puma A, Garibaldi M, Morosetti R, Tasca G, Ricci E, Trevisan CP, Galluzzi G, Pontecorvi A, Crescenzi M, Deidda G, Moretti F. Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity. Journal of Clinical Investigation 2017, 127(4), 1531-1545.
- Tasca G, Monforte M, Nesti C, Santorelli FM, Silvestri G, Ricci E. Concentric muscle involvement in POLG-related distal myopathy. Neuromuscular Disorders 2017, 27(5), 500-501.
- Johari M, Arumilli M, Palmio J, Savarese M, Tasca G, Mirabella M, Sandholm N, Lohi H, Hackman P, Udd B. Association study reveals novel risk loci for sporadic inclusion body myositis. European Journal of Neurology 2017, 24(4), 572-577.
- Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sanpaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evila A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. The genetic basis of undiagnosed muscular dystrophies and myopathies. Neurology 2016, 87(1), 71-76.
- Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E. TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. American Journal of Human Genetics 2016, 99(4), 974-983.
- Schindler RFR, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon K-L, Fang M, Rinne S, Froese A, Nikolaev VO, Grunert C, Muller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Romana Di Raimo F, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A. POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking. Journal of Clinical Investigation 2016, 126(1), 239-253.
- Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP. New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. Journal of Molecular Neuroscience 2016, 59(3), 351-359.
- Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C. MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet Journal of Rare Diseases 2016, 11(1), 91.
- Tawil R, Padberg GW, Shaw DW, Tapscott SJ, Corbett A, Day JW, Duong T, Eichinger K, Evangelista T, Farkas R, Griggs R, Heatwole C, Heerschap A, Heskamp L, Iyadurai S, Kinoshita J, Lahaut P, Mathews K, McDermott M, Miller D, Monforte M, Mourich D, Mul K, Nuckolls G, Padberg G, Pilkington G, Ricci E, Sacconi S, Shaw D, Spitali P, Statland J, Tapscott S, Tasca G, van der Maarel S, van der Maarel S, van Engelen B, Vissing J, Voermans N, Voet N, Wagner K, Wang L. Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York. Neuromuscular Disorders 2016, 26(2), 181-186.
- Calandra P, Cascino I, Lemmers RJLF, Galluzzi G, Teveroni E, Monforte M, Tasca G, Ricci E, Moretti F, Van Der Maarel SM, Deidda G. Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2. Journal of Medical Genetics 2016, 53(5), 348-355.
- Diodato D, Tasca G, Verrigni D, D'Amico A, Rizza T, Tozzi G, Martinelli D, Verardo M, Invernizzi F, Nasca A, Bellacchio E, Ghezzi D, Piemonte F, Dionisi-Vici C, Carrozzo R, Bertini E. A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease. European Journal of Human Genetics 2016, 24(3), 463-466.
- Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E. Prevalence of congenital muscular dystrophy in Italy: A population study. Neurology 2015, 84(9), 904-911.
- Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. Neuromuscular Disorders 2015, 25(7), 533-541.
- Tasca G, D'Amico A, Monforte M, Nadaj-Pakleza A, Vialle M, Fattori F, Vissing J, Ricci E, Bertini E. Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1. Neuromuscular Disorders 2015, 25(11), 898-903.
- Tasca G, D'Amico A, Verardo M, Villani A, Siani P, De Brasi D, Bertini E, Boldrini R. Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective. Neuromuscular Disorders 2015, 25(8), 672-673.
- Tasca G, Monforte M, De Fino C, Kley RA, Ricci E, Mirabella M. Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis. Muscle and Nerve 2015, 52(6), 956-962.
- Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evila A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A. Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort. Journal of Neurology 2015, 262(7), 1728-1740.
- Tasca G, Monforte M, Iannaccone E, Laschena F, Ottaviani P, Leoncini E, Boccia S, Galluzzi G, Pelliccioni M, Masciullo M, Frusciante R, Mercuri E, Ricci E. Upper girdle imaging in facioscapulohumeral muscular dystrophy. PLoS ONE 2014, 9(6).
- Tasca G, Evila A, Pane M, Monforte M, Graziano A, Hackman P, Mercuri E, Udd B. Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L. Neuromuscular Disorders 2014, 24(12), 1118-1119.
- Palmio J, Evila A, Chapon F, Tasca G, Xiang F, Bradvik B, Eymard B, Echaniz-Laguna A, Laporte J, Karppa M, Mahjneh I, Quinlivan R, Laforet P, Damian M, Berardo A, Taratuto AL, Bueri JA, Tommiska J, Raivio T, Tuerk M, Golitz P, Chevessier F, Sewry C, Norwood F, Hedberg C, Schroder R, Edstrom L, Oldfors A, Hackman P, Udd B. Hereditary myopathy with early respiratory failure: Occurrence in various populations. Journal of Neurology, Neurosurgery and Psychiatry 2014, 85(3), 345-353.
- Bohm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, Moroni I, Tasca G, Fattori F, Ricci E, Penisson-Besnier I, Nadaj-Pakleza A, Fardeau M, Joshi PR, Deschauer M, Romero NB, Eymard B, Laporte J. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. Journal of Medical Genetics 2014, 51(12), 824-833.
- Hedberg C, Niceta M, Fattori F, Lindvall B, Ciolfi A, D'Amico A, Tasca G, Petrini S, Tulinius M, Tartaglia M, Oldfors A, Bertini E. Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. Journal of Neurology 2014, 261(5), 870-876.
- Monforte M, Mercuri E, Laschena F, Ricci E, Tasca G. Calf muscle involvement in Becker muscular dystrophy: When size does not matter. Journal of the Neurological Sciences 2014, 347(1-2), 301-304.
- Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping. JAMA Neurology 2014, 71(1), 32-40.
- Lo HP, Bertini E, Mirabella M, Domazetovska A, Dale RC, Petrini S, D'Amico A, Valente EM, Barresi R, Roberts M, Tozzi G, Tasca G, Cooper ST, Straub V, North KN. Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular Disorders 2011, 21(3), 194-203.
- Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof CS, Verschuuren JJ, Aartsma-Rus A, Helderman-van-den-Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan JE, Muntoni F. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain 2011, 134(12), 3547-3559.
-
Conference Proceedings (inc. Abstracts)
- Neuhaus SB, Wallgren-Pettersson C, Schara U, Servais L, Annoussamy M, Beggs A, Bonnemann C, Bonnemann C, Colquhoun S, Darin N, Doorduin J, Dziewczapolski G, Evangelista T, Ferreiro A, Michael E, Moreno C, Munell F, Park C, Roos A, Sarkozy A, Tasca G, Voermans N. 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands. In: 250th ENMC International Workshop. 2019, Hoofdorp, the Netherlands: Elsevier Ltd.
- Warman-Chardon J, Diaz-Manera J, Tasca G, Straub V. 247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019. In: 247th ENMC International Workshop. 2019, Hoofddorp, the Netherlands: Elsevier Ltd.
- Sabatelli M, Marangi G, Conte A, Tasca G, Zollino M, Lattante S. New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis. In: Mini-Symposium: Amyotrophic Lateral Sclerosis: An Update on its complexity. 2016, Blackwell Publishing Ltd.
- Bonnemann C, Boutin M, Brais B, Buccella F, Burghes A, Coffey C, Dasgupta N, Dawkins H, De Luca A, Dowd C, Duong T, Eagle M, Finkel R, Furlong P, Gagnon C, Goemans N, Guglieri M, Hathout Y, Johnson N, Kakkis E, Kaufmann P, Kimmelman J, Korngut L, Kullman J, Lochmuller H, Marini S, McDonald C, Mohan C, Morgenroth L, Morizono H, Nagaraju K, Porter J, Reilly L, Ruegg M, Schneider J, Spitali P, Straub V, Sweeney L, Tasca G, Turner C, Veldhuizen O, Verschuuren J, Willmann R, Ward S, Ward S. Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA. In: TREAT-NMD International Conference. 2015, Washington, DC: Elsevier Ltd.
-
Letters
- Tasca G, Udd B, Sabatelli M. Response to: SOD1 mutations in adult-onset distal spinal muscular atrophy. European Journal of Neurology 2020, 27(11), e74-e74.
- Bortolani S, Fattori F, Monforte M, Ricci E, Tasca G. Peculiar muscle imaging findings in a patient with alphaB-crystallinopathy and axial myopathy. Journal of the Neurological Sciences 2020, 416, 116999.
- Campagna A, Gianfelici V, Antolino G, Pelliccia S, Galassi G, Piedimonte M, Bianchi MP, Mirabilii S, Ricciardi MR, Tasca G, Iorio R, Conte E, Ferrari A, La Verde G, Tafuri A. Central nervous system immune reconstitution inflammatory syndrome after autologous stem cell transplantation. Bone Marrow Transplantation 2020, 55(1), 268-271.
- Nicoletti T, Gaudino S, Colacicco G, Ausili Cefaro L, Tasca G, Guglielmi V, Modoni A, Gessi M, Silvestri G, Frisullo G. A man with sarcoidosis and slurred speech. European Journal of Neurology 2020, 27(1), e7-e8.
- Monforte M, Reale G, Masullo C, Rossini PM, Tasca G. Rinsing after spinning: plasmapheresis in EBV-related post-infectious cerebellitis. Journal of Neurology 2017, 264(3), 576-577.
- Monforte M, Servidei S, Ricci E, Tasca G. Fasciculations in Late-Onset Pompe Disease: A Sign of Motor Neuron Involvement? [To the Editor]. Canadian Journal of Neurological Sciences 2017, 44(4), 463-464.
- Tasca G, Fattori F, Monforte M, Hedberg-Oldfors C, Sabatelli M, Udd B, Boldrini R, Bertini E, Ricci E, Oldfors A. Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods. Journal of Neurology 2016, 263(10), 2133-2135.
-
Reviews
- Bortolani S, Brusa C, Rolle E, Monforte M, De Arcangelis V, Ricci E, Mongini TE, Tasca G. Technology outcome measures in neuromuscular disorders: A systematic review. European Journal of Neurology 2022, 29(4), 1266-1278.
- Cristiano L, Brogna C, Tasca G, Verdolotti T, Pane M, Mercuri E. Muscle-MRI and Functional Levels for the Evaluation of Upper Limbs in Duchenne Muscular Dystrophy: A Critical Review of the Literature. Medicina 2022, 58(3), 440.
- Mosca N, Petrillo S, Bortolani S, Monforte M, Ricci E, Piemonte F, Tasca G. Redox homeostasis in muscular dystrophies. Cells 2021, 10(6), 1364.
- Nicoletti T, Quaranta D, Della Marca G, Tasca G, Gainotti G. Eyelid closing and opening disorders in patients with unilateral brain lesions: A case report with video neuroimage and a systematic review of the literature. Journal of Clinical Neuroscience 2021, 87, 69-73.
- Chardon JW, Diaz-Manera J, Tasca G, Bonnemann CG, Gomez-Andres D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Torron RF, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY. MYO-MRI diagnostic protocols in genetic myopathies. Neuromuscular Disorders 2019, 29(11), 827-841.
- Paoletti M, Pichiecchio A, Piccinelli SC, Tasca G, Berardinelli AL, Padovani A, Filosto M. Advances in quantitative imaging of genetic and acquired myopathies: Clinical applications and perspectives. Frontiers in Neurology 2019, 10, 78.
- Tasca G, Udd B. Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough. Neuromuscular Disorders 2018, 28(3), 268-276.
- Tasca G, Monforte M, Ottaviani P, Pelliccioni M, Frusciante R, Laschena F, Ricci E. Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials. Annals of Neurology 2016, 79(5), 854-864.