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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1953 1
1993 3
1994 4
1995 5
1996 9
1997 3
1998 5
1999 4
2000 3
2001 3
2002 3
2003 7
2004 3
2005 6
2006 6
2007 5
2008 5
2009 8
2010 14
2011 13
2012 14
2013 17
2014 17
2015 16
2016 23
2017 18
2018 18
2019 19
2020 23
2021 22
2022 18
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284 results
Results by year
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Page 1
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Currò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A. Currò R, et al. Among authors: pegoraro e. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.
Maggi L, Bello L, Bonanno S, Govoni A, Caponnetto C, Passamano L, Grandis M, Trojsi F, Cerri F, Ferraro M, Bozzoni V, Caumo L, Piras R, Tanel R, Saccani E, Meneri M, Vacchiano V, Ricci G, Soraru' G, D'Errico E, Tramacere I, Bortolani S, Pavesi G, Zanin R, Silvestrini M, Politano L, Schenone A, Previtali SC, Berardinelli A, Turri M, Verriello L, Coccia M, Mantegazza R, Liguori R, Filosto M, Marrosu G, Siciliano G, Simone IL, Mongini T, Comi G, Pegoraro E. Maggi L, et al. Among authors: pegoraro e. J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1166-1174. doi: 10.1136/jnnp-2020-323822. Epub 2020 Sep 11. J Neurol Neurosurg Psychiatry. 2020. PMID: 32917822
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.
Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC. Guglieri M, et al. Among authors: pegoraro e. Contemp Clin Trials. 2017 Jul;58:34-39. doi: 10.1016/j.cct.2017.04.008. Epub 2017 Apr 24. Contemp Clin Trials. 2017. PMID: 28450193 Free PMC article. Clinical Trial.
Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT.
Amato AA, Hanna MG, Machado PM, Badrising UA, Chinoy H, Benveniste O, Karanam AK, Wu M, Tankó LB, Schubert-Tennigkeit AA, Papanicolaou DA, Lloyd TE, Needham M, Liang C, Reardon KA, de Visser M, Ascherman DP, Barohn RJ, Dimachkie MM, Miller JAL, Kissel JT, Oskarsson B, Joyce NC, Van den Bergh P, Baets J, De Bleecker JL, Karam C, David WS, Mirabella M, Nations SP, Jung HH, Pegoraro E, Maggi L, Rodolico C, Filosto M, Shaibani AI, Sivakumar K, Goyal NA, Mori-Yoshimura M, Yamashita S, Suzuki N, Aoki M, Katsuno M, Morihata H, Murata K, Nodera H, Nishino I, Romano CD, Williams VSL, Vissing J, Zhang Auberson L; RESILIENT Study Extension Group. Amato AA, et al. Among authors: pegoraro e. Neurology. 2021 Mar 23;96(12):e1595-e1607. doi: 10.1212/WNL.0000000000011626. Epub 2021 Feb 17. Neurology. 2021. PMID: 33597289 Free PMC article. Clinical Trial.
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies.
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. Panicucci C, et al. Among authors: pegoraro e. Clin Neuropathol. 2021 Nov-Dec;40(6):310-318. doi: 10.5414/NP301393. Clin Neuropathol. 2021. PMID: 34281632
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC; FOR-DMD Investigators of the Muscle Study Group, Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Guglieri M, et al. Among authors: pegoraro e. JAMA. 2022 Apr 19;327(15):1456-1468. doi: 10.1001/jama.2022.4315. JAMA. 2022. PMID: 35381069 Clinical Trial.
Nutrition in adult patients with selected lysosomal storage diseases.
Carubbi F, Barbato A, Burlina AB, Francini F, Mignani R, Pegoraro E, Landini L, De Danieli G, Bruni S, Strazzullo P; Italian Society of Human Nutrition Working Group on Nutrition in Lysosomal Storage Diseases. Carubbi F, et al. Among authors: pegoraro e. Nutr Metab Cardiovasc Dis. 2021 Mar 10;31(3):733-744. doi: 10.1016/j.numecd.2020.11.028. Epub 2020 Dec 9. Nutr Metab Cardiovasc Dis. 2021. PMID: 33589321 Review.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM. Galatolo D, et al. Among authors: pegoraro e. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.
Evaluation of peripherin in biofluids of patients with motor neuron diseases.
Sabbatini D, Raggi F, Ruggero S, Seguso M, Mandrioli J, Cagnin A, Briani C, Toffanin E, Gizzi M, Fortuna A, Bello L, Pegoraro E, Musso G, Sorarù G. Sabbatini D, et al. Among authors: pegoraro e. Ann Clin Transl Neurol. 2021 Aug;8(8):1750-1754. doi: 10.1002/acn3.51419. Epub 2021 Jul 15. Ann Clin Transl Neurol. 2021. PMID: 34264016 Free PMC article.
284 results