Photo of Dr Pietro Fratta

Dr Pietro Fratta

Telephone:

Email:

Location:

  • National Hospital for Neurology and Neurosurgery

GMC/GDC number:

7035430

Professional background

Professor Pietro Fratta is an MRC senior clinical fellow and MNDA Lady Edith Wolfson fellow at the UCL Queen Square Institute of Neurology and honorary consultant neurologist at the National Hospital for Neurology and Neurosurgery.

His research focuses on molecular mechanisms and biomarkers of motor neuron disease (MND) and Kennedy’s disease, also known as spinal bulbar muscular atrophy (SBMA). His clinical activity is within the MND group at NHNN. He has a specific interest in MND genetics and Kennedy’s disease, and runs an MND Genetics clinic and a Kennedy’s disease clinic, the only dedicated clinic to this disease in the UK.

He obtained his PhD at the UCL Institute of Neurology working on models of motor neuron disease. He previously trained in Neurology with a focus on neuromuscular disorders, at the University of Milan and at the University of Southern California (USC).

Specialties

Research interests

Professor Fratta has a longstanding research interest in neuromuscular disorders. His research is centred on motor neuron disease (MND) and Kennedy’s disease. His research aims at understanding the basic molecular mechanisms underlying these disorders, focusing on the alteration of RNA metabolism. He is also investigating MRI and blood-derived biomarkers to improve the assessment of disease progression, in order to allow more effective clinical trials. He has previously carried out research on nerve and muscle disorders.

His research is currently funded by the UK Medical Research Council, the UK Motor Neurone Disease Association, the UCLH-NIHR Biomedical Research Centre, the Neuro Research Trust and the Rosetrees Foundation.

Languages spoken

French, Italian

Publications

  • Hashizume A, Fischbeck KH, Pennuto M, Fratta P, Katsuno M. Disease mechanism, biomarker, and therapeutics for spinal and bulbar muscular atrophy. J Neurol Neurosurg Psychiatry 2020, In press
  • Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus J, Shi J, Heckman M, Spiegel M, Cook C, Song Y, Yue M, Daughrity L, Carlomagno Y, Jansen-West K, Fernandez De Castro C, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S, Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve B, Knopman DS, Petersen R, Josephs K, Thompson EA, Raj T, Ward ME, Dickson D, Gendron TF, Fratta P*, Petrucelli L. Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia. J Clin Invest. 2020 Aug 13:139741. doi: 10.1172/JCI139741.
  • Bampton A, Gittings LM, Fratta P, Lashley T, Gatt A. The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis. Acta Neuropathol. 2020 Aug 3. doi: 10.1007/s00401-020-02203-0. 
  • Humphrey J, Birsa N, Milioto C, McLaughlin M, Ule AM, Robaldo D, Eberle AB, Kräuchi R, Bentham M, Brown AL, Jarvis S, Bodo C, Garone MG, Devoy A, Soraru G, Rosa A, Bozzoni I, Fisher EMC, Mühlemann O, Schiavo G, Ruepp MD, Isaacs AM, Plagnol V, Fratta P*. FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention. Nucleic Acids Res. 2020 Jul 9;48(12):6889-6905. doi: 10.1093/nar/gkaa410.
  • Cunningham TJ, Fisher E, Fratta P, Gilthorpe JD. DNA Editing for Amyotrophic Lateral Sclerosis: Leading Off First Base. CRISPR J. 2020 Apr;3(2):75-77. doi: 10.1089/crispr.2020.29087.tcu.
  • Sleigh JN, Tosolini AP, Gordon D, Devoy A, Fratta P, Fisher EMC, Talbot K, Schiavo G. Mice Carrying ALS Mutant TDP-43, but Not Mutant FUS, Display In Vivo Defects in Axonal Transport of Signaling Endosomes. Cell Rep. 2020 Mar 17;30(11):3655-3662.e2. doi: 10.1016/j.celrep.2020.02.078.
  • Abramzon YA, Fratta P, Traynor BJ, Chia R. The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Front Neurosci. 2020 Feb 5;14:42. doi: 10.3389/fnins.2020.00042. eCollection 2020.
  • Fratta P*, Birsa N, Tosolini A, Schiavo G Travelling Together: A Unifying Pathomechanism for ALS Trends in Neurosciences 2019, In press
  • Lombardi V, Bombaci A, Zampedri L, Lu CH, Malik B, Zetterberg H, Heslegrave AJ, Rinaldi C, Greensmith L, Hanna MG, Malaspina A, Fratta P*. Plasma pNfH levels differentiate SBMA from ALS. J Neurol Neurosurg Psychiatry 2019 pii: jnnp-2019-320624.
  • Klickovic U, Zampedri L, Sinclair CDJ, Wastling SJ, Trimmel K, Howard RS, Malaspina A, Sharma N, Sidle K, Emira A, Shah S, Yousry TA, Hanna MG, Greensmith L, Morrow JM, Thornton JS, Fratta P* Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity. Neurology 2019 93(9):e895-e907.
  • Nair RR, Corrochano S, Gasco S, Tibbit C, Thompson D, Maduro C, Ali Z, Fratta P, Arozena AA, Cunningham TJ, Fisher EMC. Uses for humanised mouse models in precision medicine for neurodegenerative disease. Mamm Genome. 2019 30:173-191
  • Birsa N, Bentham MP, Fratta P* Cytoplasmic functions of TDP-43 and FUS and their role in ALS. Semin Cell Dev Biol. 2019 S1084-9521(18)30197-6.
  • Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 51:649-658
  • Lombardi V, Querin G, Ziff O, Zampedri L, Heller C, Foiani M, Martinelli I, Bertolin C, Lu C, Malik B, Allen K, Rinaldi C, Greensmith L, Zetterberg H, Heslegrave A, Hanna M, Soraru' G, Malaspina A and Fratta P* Muscle and not neuronal peripheral biomarkers correlate with clinical severity in Spinal and Bulbar Muscular Atrophy. Neurology 2019 92(11):e1205-e1211.
  • Moens TG, Niccoli T, Wilson KM, Atilano ML, Birsa N, Gittings LM, Holbling BV, Dyson MC, Thoeng A, Neeves J, Glaria I, Yu L, Bussmann J, Storkebaum E, Pardo M, Choudhary JS, Fratta P, Partridge L, Isaacs AM. C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A. Acta Neuropathol. 2019 137(3):487-500.
  • Coenen-Stass A, Magen I, Brooks A, Ben-Dov IZ, Greensmith L, Hornstein E, Fratta P* Evaluation of methodologies for microRNA biomarker detection by next generation sequencing. RNA Biology 2018 15(8):1133-1145.
  • Sivakumar P, De Giorgio F, Ule AM, Neeves J, Nair RR, Bentham M, Birsa N, Humphrey J, Plagnol V, Acevedo-Arozena A, Cunningham TJ, Fisher EMC, Fratta P* TDP-43 mutations increase HNRNP A1-7B through gain of splicing function. Brain 2018 141(12):e83.
  • Fratta P*, Ornaghi F, Dati G, Zambroni D, Saveri P, Belin S, D'Adamo P, Shy M, Quattrini A, Feltri ML, Wrabetz L. A nonsense mutation in Myelin Protein Zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. Hum Mol Genet. 2018 28(1):124-132.
  • Belin S, Ornaghi F, Shackleford G, Wang J, Scapin C, Lopez-Anido C, Silvestri N, Robertson N, Williamson C, Ishii A, Taveggia C, Svaren J, Bansal R, Markus Schwab H, Nave K, Fratta P, D'Antonio M, Poitelon Y, Laura Feltri M, Wrabetz L.  Neuregulin 1 type III improves peripheral nerve myelination in a mouse model of congenital hypomyelinating neuropathy. Hum Mol Genet. 2018. doi: 10.1093/hmg/ddy420.
  • Conlon EG, Fagegaltier D, Agius P, Davis-Porada J, Gregory J, Hubbard I, Kang K, Kim D; New York Genome Center ALS Consortium, Phatnani H, Kwan J, Sareen D, Broach JR, Simmons Z, Arcila-Londono X, Lee EB, Van Deerlin VM, Shneider NA, Fraenkel E, Ostrow LW, Baas F, Zaitlen N, Berry JD, Malaspina A, Fratta P, Cox GA, Thompson LM, Finkbeiner S, Dardiotis E, Miller TM, Chandran S, Pal S, Hornstein E, MacGowan DJ, Heiman-Patterson T, Hammell MG, Patsopoulos NA, Dubnau J, Nath A, Phatnani H, Shneider NA, Manley JL. Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism. Elife. 2018 Jul 13;7. pii: e37754. doi: 10.7554/eLife.37754.
  • Fratta P*, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A. Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. EMBO J. 2018 37(11). pii: e98684.
  • Fratta P* and Isaacs A. The snowball effect of RNA binding protein dysfunction in ALS Brain 2018 141(5):1236-1238.
  • Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr., van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.  Neuron. 2018 97(6):1268-1283.e6.
  • Manzano R, Sorarú G, Grunseich C, Fratta P, Zuccaro E, Pennuto M, Rinaldi C. Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease. J Neurol Neurosurg Psychiatry. 2018 89(8):808-812.
  • Simone R, Balendra R, Moens TG, Preza E, Wilson KM, Heslegrave A, Woodling NS, Niccoli T, Gilbert-Jaramillo J, Abdelkarim S, Clayton EL, Clarke M, Konrad MT, Nicoll AJ, Mitchell JS, Calvo A, Chio A, Houlden H, Polke JM, Ismail MA, Stephens CE, Vo T, Farahat AA, Wilson WD, Boykin DW, Zetterberg H, Partridge L, Wray S, Parkinson G, Neidle S, Patani R, Fratta P*, Isaacs AM. G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo. EMBO Mol Med. 2018;10:22-31.
  • Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy SJ, Redhead Y, Humphrey J, Lo K, Jaeger J, Mejia Maza A, Sivakumar P, Bertolin C, Soraru G, Plagnol V, Greensmith L, Acevedo Arozena A, Isaacs AM, Davies B, Fratta P, Fisher EMC. Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice. Brain. 2017 Nov 1;140(11):2797-2805.
  • Humphrey J, Emmett W, Fratta P, Isaacs AM, Plagnol V. Quantitative analysis of cryptic splicing associated with TDP-43 depletion. BMC Med Genomics. 2017 May 26;10(1):38.
  • Morgan S, Shatunov A, Sproviero W, Jones AR, Shoai M, Hughes D, Al Khleifat A, Malaspina A, Morrison KE, Shaw PJ, Shaw CE, Sidle K, Orrell RW, Fratta P, Hardy J, Pittman A, Al-Chalabi A. A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain. 2017 Jun 1;140(6):1611-1618
  • Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A. ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiol Aging. 2017 Mar;51:178.e1-178.e9.
  • van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glava? M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet. 2016 Sep;48(9):1043-8.
  • Lu CH, Allen K, Oei F, Leoni E, Kuhle J, Tree T, Fratta P, Sharma N, Sidle K, Howard R, Orrell R, Fish M, Greensmith L, Pearce N, Gallo V, Malaspina A. Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis. Neurol Neuroimmunol Neuroinflamm. 2016 Jun 1;3(4):e244.
  • Bertolin C, Querin G, Da Re E, Sagnelli A, Bello L, Cao M, Muscas M, Pennuto M, Ermani M, Pegoraro E, Mariotti C, Gellera C, Hanna MG, Pareyson D, Fratta P, Sorarù G. No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype. Eur J Neurol. 2016 Jun;23(6):1134-6.
  • Pareyson D, Fratta P, Pradat PF, Sorarù G, Finsterer J, Vissing J, Jokela ME, Udd B, Ludolph AC, Sagnelli A, Weydt P. Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy. J Mol Neurosci. 2016 Mar;58(3):394-400.
  • Joyce PI, Fratta P, Landman AS, Mcgoldrick P, Wackerhage H, Groves M, Busam BS, Galino J, Corrochano S, Beskina OA, Esapa C, Ryder E, Carter S, Stewart M, Codner G, Hilton H, Teboul L, Tucker J, Lionikas A, Estabel J, Ramirez-Solis R, White JK, Brandner S, Plagnol V, Bennet DL, Abramov AY, Greensmith L, Fisher EM, Acevedo-Arozena A. Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration. Hum Mol Genet. 2016 Jan 15;25(2):291-307.
  • Weydt P, Sagnelli A, Rosenbohm A, Fratta P, Pradat PF, Ludolph AC, Pareyson D. Clinical Trials in Spinal and Bulbar Muscular Atrophy-Past, Present, and Future. J Mol Neurosci. 2016 Mar;58(3):379-87.
  • Abdelkarim S, Morgan S, Plagnol V, Lu CH, Adamson G, Howard R, Malaspina A, Orrell R, Sharma N, Sidle K, Clarke J, Fox NC, Rossor MN, Warren JD, Clark CN, Rohrer JD, Fisher EM, Mead S, Pittman A, Fratta P*. CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. Brain. 2016 Feb;139(Pt 2):e9.
  • Simone R, Fratta P, Neidle S, Parkinson GN, Isaacs AM. G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome. FEBS Lett. 2015 Jun 22;589(14):1653-68.
  • Lu CH, Macdonald-Wallis C, Gray E, Pearce N, Petzold A, Norgren N, Giovannoni G, Fratta P, Sidle K, Fish M, Orrell R, Howard R, Talbot K, Greensmith L, Kuhle J, Turner MR, Malaspina A. Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis. Neurology. 2015 Jun 2;84(22):2247-57.
  • Xi Z, Zhang M, Bruni AC, Maletta RG, Colao R, Fratta P, Polke JM, Sweeney MG, Mudanohwo E, Nacmias B, Sorbi S, Tartaglia MC, Rainero I, Rubino E, Pinessi L, Galimberti D, Surace EI, McGoldrick P, McKeever P, Moreno D, Sato C, Liang Y, Keith J, Zinman L, Robertson J, Rogaeva E. The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients. Acta Neuropathol. 2015 May;129(5):715-27.
  • Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Orrell RW, Hardy J, Holton J, Revesz T, Rossor MN, Warren JD. C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. Lancet Neurol. 2015 Mar;14(3):291-301.
  • Morgan S, Shoai M, Fratta P, Sidle K, Orrell R, Sweeney MG, Shatunov A, Sproviero W, Jones A, Al-Chalabi A, Malaspina A, Houlden H, Hardy J, Pittman A. Investigtion of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. Neurobiol Aging. 2015 Mar;36(3):1600.e5-8
  • Fratta P, Hanna MG. Neuromuscular diseases: progress in gene discovery drives diagnostics and therapeutics. Lancet Neurol. 2015 Jan;14(1):13-4.
  • Bunton-Stasyshyn RK, Saccon RA, Fratta P, Fisher EM. SOD1 Function and Its Implications for Amyotrophic Lateral Sclerosis Pathology: New and Renascent Themes. Neuroscientist. 2015 Oct;21(5):519-29.
  • Joyce PI, Mcgoldrick P, Saccon RA, Weber W, Fratta P, West SJ, Zhu N, Carter S, Phatak V, Stewart M, Simon M, Kumar S, Heise I, Bros-Facer V, Dick J, Corrochano S, Stanford MJ, Luong TV, Nolan PM, Meyer T, Brandner S, Bennett DL, Ozdinler PH, Greensmith L, Fisher EM, Acevedo-Arozena A. A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity. Hum Mol Genet. 2015 Apr 1;24(7):1883-97.
  • Corrochano S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amior N, Dick J, Healy EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, Cox R, Brown SD, Tucci V, Wackerhage H, Amato AA, Greensmith L, Koltzenburg M, Hanna MG, Acevedo-Arozena A. Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis. Brain. 2014 Dec;137(Pt 12):3171-85.
  • Fratta P*, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM. Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiol Aging. 2015 Jan;36(1):546.e1-7.
  • Manole A, Fratta P, Houlden H. Recent advances in bulbar syndromes: genetic causes and disease mechanisms. Curr Opin Neurol. 2014 Oct;27(5):506-14.
  • Mizielinska S, Grönke S, Niccoli T, Ridler CE, Clayton EL, Devoy A, Moens T, Norona FE, Woollacott IOC, Pietrzyk J, Cleverley K, Nicoll AJ, Pickering-Brown S, Dols J, Cabecinha M, Hendrich O, Fratta P, Fisher EMC, Partridge L, Isaacs AM. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science. 2014 Sep 5;345(6201):1192-1194.
  • Lu CH, Petzold A, Topping J, Allen K, Macdonald-Wallis C, Clarke J, Pearce N, Kuhle J, Giovannoni G, Fratta P, Sidle K, Fish M, Orrell R, Howard R, Greensmith L, Malaspina A. Plasma neurofilament heavy chain levels and disease progression in amyotrophic lateral sclerosis: insights from a longitudinal study. J Neurol Neurosurg Psychiatry. 2015 May;86(5):565-73.
  • Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M. Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology. 2014 Jun 10;82(23):2072-6.
  • Fratta P*, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A, Pemble S, Malaspina A, Fisher EM, Greensmith L, Hanna MG. Correlation of clinical and molecular features in spinal bulbar muscular atrophy. Neurology. 2014 Jun 10;82(23):2077-84.
  • Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD; ITALSGEN, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 2014 May;17(5):664-666.
  • Ricketts T, McGoldrick P, Fratta P, de Oliveira HM, Kent R, Phatak V, Brandner S, Blanco G, Greensmith L, Acevedo-Arozena A, Fisher EM. A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects. PLoS One. 2014 Jan 21;9(1):e85962.
  • Cortese A, Plagnol V, Brady S, Simone R, Lashley T, Acevedo-Arozena A, de Silva R, Greensmith L, Holton J, Hanna MG, Fisher EM, Fratta P*. Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiol Aging. 2014 Jun;35(6):1491-8.
  • Fratta P*, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM. Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2014 May;85(5):506-8.
  • Mizielinska S, Lashley T, Norona FE, Clayton EL, Ridler CE, Fratta P, Isaacs AM. C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathol. 2013 Dec;126(6):845-57.
  • Fratta P*, Collins T, Pemble S, Nethisinghe S, Devoy A, Giunti P, Sweeney MG, Hanna MG, Fisher EM. Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions. Neurobiol Aging. 2014 Feb;35(2):443.e1-3.
  • Fratta P*, Hanna MG, Fisher EM, Sidle K. An unusual presentation for SOD1-ALS: isolated facial diplegia. Muscle Nerve. 2013 Dec;48(6):994-5. Fratta P*, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S. Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol. 2013 Sep;126(3):401-9.
  • Saccon RA, Bunton-Stasyshyn RK, Fisher EM, Fratta P*. Is SOD1 loss of function involved in amyotrophic lateral sclerosis? Brain. 2013 Aug;136(Pt 8):2342-58.
  • Thorne T, Fratta P, Hanna MG, Cortese A, Plagnol V, Fisher EM, Stumpf MP. Graphical modelling of molecular networks underlying sporadic inclusion body myositis. Mol Biosyst. 2013 Jul;9(7):1736-42.
  • Fratta P. Antisense makes sense for amyotrophic lateral sclerosis. Lancet Neurol. 2013 May;12(5):416-7.
  • Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet. 2013 Mar 7;92(3):345-53.
  • Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EM, Parkinson G, Isaacs AM. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep. 2012;2:1016.
  • Fratta P*, Malik B, Gray A, La Spada AR, Hanna MG, Fisher EM, Greensmith L. FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion. Neurobiol Aging. 2013 May;34(5):1516.e17-9.
  • Joyce PI, Fratta P, Fisher EM, Acevedo-Arozena A. SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments. Mamm Genome. 2011 Aug;22(7-8):420-48.
  • Fratta P, Saveri P, Zambroni D, Ferri C, Tinelli E, Messing A, D'Antonio M, Feltri ML, Wrabetz L. P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice. Hum Mol Genet. 2011 Jun 1;20(11):2081-90.
  • Nishimura AL, Zupunski V, Troakes C, Kathe C, Fratta P, Howell M, Gallo JM, Hortobágyi T, Shaw CE, Rogelj B. Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration. Brain. 2010 Jun;133(Pt 6):1763-71.
  • Wrabetz L, D'Antonio M, Pennuto M, Dati G, Tinelli E, Fratta P, Previtali S, Imperiale D, Zielasek J, Toyka K, Avila RL, Kirschner DA, Messing A, Feltri ML, Quattrini A. Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice. J Neurosci. 2006 Feb 22;26(8):2358-68.
  • Fratta P, Engel WK, McFerrin J, Davies KJ, Lin SW, Askanas V. Proteasome inhibition and aggresome formation in sporadic inclusion-body myositis and in amyloid-beta precursor protein-overexpressing cultured human muscle fibers. Am J Pathol. 2005 Aug;167(2):517-26.
  • Fratta P, Engel WK, Van Leeuwen FW, Hol EM, Vattemi G, Askanas V. Mutant ubiquitin UBB+1 is accumulated in sporadic inclusion-body myositis muscle fibers. Neurology. 2004 Sep 28;63(6):1114-7.

*: corresponding author, Fratta P