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Year Number of Results
1984 1
1988 1
1989 1
1990 1
1991 4
1992 3
1993 1
1994 5
1995 1
1996 1
1997 1
1999 3
2000 1
2003 1
2005 3
2006 1
2007 3
2008 8
2009 5
2010 5
2011 15
2012 6
2013 7
2014 5
2015 17
2016 17
2017 19
2018 17
2019 9
2020 10
2021 16
2022 15
2023 20
2024 20

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215 results

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Page 1
Tominersen in Adults with Manifest Huntington's Disease.
McColgan P, Thobhani A, Boak L, Schobel SA, Nicotra A, Palermo G, Trundell D, Zhou J, Schlegel V, Sanwald Ducray P, Hawellek DJ, Dorn J, Simillion C, Lindemann M, Wheelock V, Durr A, Anderson KE, Long JD, Wild EJ, Landwehrmeyer GB, Leavitt BR, Tabrizi SJ, Doody R; GENERATION HD1 Investigators. McColgan P, et al. N Engl J Med. 2023 Dec 7;389(23):2203-2205. doi: 10.1056/NEJMc2300400. N Engl J Med. 2023. PMID: 38055260 No abstract available.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: marelli c. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Pneumocystis jirovecii pneumonia in intensive care units: a multicenter study by ESGCIP and EFISG.
Giacobbe DR, Dettori S, Di Pilato V, Asperges E, Ball L, Berti E, Blennow O, Bruzzone B, Calvet L, Capra Marzani F, Casabella A, Choudaly S, Dartevel A, De Pascale G, Di Meco G, Fallon M, Galerneau LM, Gallego M, Giacomini M, González Sáez A, Hänsel L, Icardi G, Koehler P, Lagrou K, Lahmer T, Lewis White P, Magnasco L, Marchese A, Marelli C, Marín-Arriaza M, Martin-Loeches I, Mekontso-Dessap A, Mikulska M, Mularoni A, Nordlander A, Poissy J, Russelli G, Signori A, Tascini C, Vaconsin LM, Vargas J, Vena A, Wauters J, Pelosi P, Timsit JF, Bassetti M; JIR-ICU investigators (collaborators); Critically Ill Patients Study Group of the European Society of Clinical Microbiology and Infectious Diseases (ESGCIP), and the Fungal Infection Study Group of the European Society of Clinical Microbiology and Infectious Diseases (EFISG). Giacobbe DR, et al. Among authors: marelli c. Crit Care. 2023 Aug 24;27(1):323. doi: 10.1186/s13054-023-04608-1. Crit Care. 2023. PMID: 37620828 Free PMC article.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchère F, Magne FO, Halleb Y, Renaud M, Larrieu L, Baux D, Patat O, Bousquet I, Ravel JM, Cuntz-Shadfar D, Sarret C, Ayrignac X, Rolland A, Morales R, Pointaux M, Lieutard-Haag C, Laurens B, Tillikete C, Bernard E, Mallaret M, Carra-Dallière C, Tranchant C, Meyer P, Damaj L, Pasquier L, Acquaviva C, Chaussenot A, Isidor B, Nguyen K, Camu W, Eusebio A, Carrière N, Riquet A, Thouvenot E, Gonzales V, Carme E, Attarian S, Odent S, Castrioto A, Ewenczyk C, Charles P, Kremer L, Sissaoui S, Bahi-Buisson N, Kaphan E, Degardin A, Doray B, Julia S, Remerand G, Fraix V, Haidar LA, Lazaro L, Laugel V, Villega F, Charlin C, Frismand S, Moreira MC, Witjas T, Francannet C, Walther-Louvier U, Fradin M, Chabrol B, Fluss J, Bieth E, Castelnovo G, Vergnet S, Meunier I, Verloes A, Brischoux-Boucher E, Coubes C, Geneviève D, Lebouc N, Azulay JP, Anheim M, Goizet C, Rivier F, Labauge P, Calvas P, Koenig M. Benkirane M, et al. Among authors: marelli c. Genet Med. 2021 Nov;23(11):2160-2170. doi: 10.1038/s41436-021-01250-6. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234304 Free article.
Microbiota and metabolic diseases.
Pascale A, Marchesi N, Marelli C, Coppola A, Luzi L, Govoni S, Giustina A, Gazzaruso C. Pascale A, et al. Among authors: marelli c. Endocrine. 2018 Sep;61(3):357-371. doi: 10.1007/s12020-018-1605-5. Epub 2018 May 2. Endocrine. 2018. PMID: 29721802 Review.
Effect of long-term omega 3 polyunsaturated fatty acid supplementation with or without multidomain intervention on cognitive function in elderly adults with memory complaints (MAPT): a randomised, placebo-controlled trial.
Andrieu S, Guyonnet S, Coley N, Cantet C, Bonnefoy M, Bordes S, Bories L, Cufi MN, Dantoine T, Dartigues JF, Desclaux F, Gabelle A, Gasnier Y, Pesce A, Sudres K, Touchon J, Robert P, Rouaud O, Legrand P, Payoux P, Caubere JP, Weiner M, Carrié I, Ousset PJ, Vellas B; MAPT Study Group. Andrieu S, et al. Lancet Neurol. 2017 May;16(5):377-389. doi: 10.1016/S1474-4422(17)30040-6. Epub 2017 Mar 27. Lancet Neurol. 2017. PMID: 28359749 Clinical Trial.
Mortality in KPC-producing Klebsiella pneumoniae bloodstream infections: a changing landscape.
Giacobbe DR, Marelli C, Cattardico G, Fanelli C, Signori A, Di Meco G, Di Pilato V, Mikulska M, Mazzitelli M, Cattelan AM, Pallotto C, Francisci D, Calabresi A, Lombardi A, Gori A, Del Bono V, Aldieri C, Losito AR, Raffaelli F, Cortegiani A, Milazzo M, Del Puente F, Pontali E, De Rosa FG, Corcione S, Mularoni A, Russelli G, Giacomini M, Badalucco Ciotta F, Oltolini C, Serino FS, Momesso E, Spinicci M, Graziani L, Torti C, Trecarichi EM, Merli M, D'Amico F, Marchese A, Vena A, Bassetti M. Giacobbe DR, et al. Among authors: marelli c. J Antimicrob Chemother. 2023 Oct 3;78(10):2505-2514. doi: 10.1093/jac/dkad262. J Antimicrob Chemother. 2023. PMID: 37606528
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, Barth M, Bozaci AE, Brassier A, Canda E, Cano A, Chronopoulou E, Connolly GM, Damaj L, Dawson C, Dobbelaere D, Douillard C, Eminoglu FT, Erdol S, Ersoy M, Fang S, Feillet F, Gokcay G, Goksoy E, Gorce M, Inci A, Kadioglu B, Kardas F, Kasapkara CS, Kilic Yildirim G, Kor D, Kose M, Marelli C, Mundy H, O'Sullivan S, Ozturk Hismi B, Ramachandran R, Roubertie A, Sanlilar M, Schiff M, Sreekantam S, Stepien KM, Uzun Unal O, Yildiz Y, Zubarioglu T, Gissen P. Seker Yilmaz B, et al. Among authors: marelli c. Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721. Life (Basel). 2022. PMID: 36362876 Free PMC article.
215 results