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

Year Number of Results
1960 4
1961 8
1962 9
1963 2
1964 6
1965 5
1966 2
1967 6
1968 10
1969 3
1970 5
1971 1
1972 2
1973 1
1974 1
1975 1
1976 4
1977 1
1978 1
1979 2
1983 1
1984 3
1985 2
1986 3
1987 2
1988 1
1989 3
1990 1
1991 3
1992 1
1993 3
1994 1
1998 1
1999 1
2000 1
2001 1
2003 1
2004 1
2005 2
2008 2
2009 2
2010 2
2011 4
2012 2
2013 2
2014 2
2015 7
2016 6
2017 4
2018 3
2019 6
2020 7
2021 5
2022 12
2023 8
2024 1

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171 results

Results by year

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Page 1
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: melani f. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Marini C, et al. Among authors: melani f. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
Hypersensitivity to Rituximab in Children.
Liccioli G, Simonini G, Melani F, Giovannini M, Ricci S, Sarti L, Cavallin M, Barni S, Marrani E, Mori F. Liccioli G, et al. Among authors: melani f. Pharmacology. 2021;106(5-6):341-344. doi: 10.1159/000511458. Epub 2020 Nov 17. Pharmacology. 2021. PMID: 33202411
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
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. Dosi C, et al. Among authors: melani f. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC article.
Diagnostic methods and treatment options for focal cortical dysplasia.
Guerrini R, Duchowny M, Jayakar P, Krsek P, Kahane P, Tassi L, Melani F, Polster T, Andre VM, Cepeda C, Krueger DA, Cross JH, Spreafico R, Cosottini M, Gotman J, Chassoux F, Ryvlin P, Bartolomei F, Bernasconi A, Stefan H, Miller I, Devaux B, Najm I, Giordano F, Vonck K, Barba C, Blumcke I. Guerrini R, et al. Among authors: melani f. Epilepsia. 2015 Nov;56(11):1669-86. doi: 10.1111/epi.13200. Epub 2015 Oct 5. Epilepsia. 2015. PMID: 26434565 Free article. Review.
Data monitoring roadmap. The experience of the Italian Multiple Sclerosis and Related Disorders Register.
Mosconi P, Guerra T, Paletta P, D'Ettorre A, Ponzio M, Battaglia MA, Amato MP, Bergamaschi R, Capobianco M, Comi G, Gasperini C, Patti F, Pugliatti M, Ulivelli M, Trojano M, Lepore V; Italian Multiple Sclerosis and Related Disorders Register Centres Group. Mosconi P, et al. Neurol Sci. 2023 Nov;44(11):4001-4011. doi: 10.1007/s10072-023-06876-9. Epub 2023 Jun 14. Neurol Sci. 2023. PMID: 37311951 Free PMC article.
Clinical significance of circulating proinsulin and C-peptide.
Rubenstein AH, Steiner DF, Horwitz DL, Mako ME, Block MB, Starr JI, Kuzuya H, Melani F. Rubenstein AH, et al. Among authors: melani f. Recent Prog Horm Res. 1976;33:435-75. doi: 10.1016/b978-0-12-571133-3.50017-9. Recent Prog Horm Res. 1976. PMID: 198859 Review. No abstract available.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
De Maria B, Balestrini S, Mei D, Melani F, Pellacani S, Pisano T, Rosati A, Scaturro GM, Giordano L, Cantalupo G, Fontana E, Zammarchi C, Said E, Leuzzi V, Mastrangelo M, Galosi S, Parrini E, Guerrini R. De Maria B, et al. Among authors: melani f. Am J Med Genet A. 2022 Feb;188(2):522-533. doi: 10.1002/ajmg.a.62548. Epub 2021 Oct 29. Am J Med Genet A. 2022. PMID: 34713950
Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD.
Nosadini M, Eyre M, Giacomini T, Valeriani M, Della Corte M, Praticò AD, Annovazzi P, Cordani R, Cordelli DM, Crichiutti G, Di Rosa G, Dolcemascolo V, Fetta A, Freri E, Gallo P, Gastaldi M, Granata T, Grazian L, Iorio R, Lombardini M, Margoni M, Mariotto S, Matricardi S, Melani F, Nardocci N, Papetti L, Passarini A, Pisani F, Po' C, Puthenparampil M, Ragona F, Savasta S, Siliquini S, Toldo I, Tozzo A, Turco EC, Varone A, Vogrig A, Zuliani L, Bugin S, Rossato S, Orsini A, Cantalupo G, Mancardi MM, Ferilli MAN, Foiadelli T, Sartori S. Nosadini M, et al. Among authors: melani f. Neurol Neuroimmunol Neuroinflamm. 2022 Nov 29;10(1):e200065. doi: 10.1212/NXI.0000000000200065. Print 2023 Jan. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 36446614 Free PMC article.
Pro-hormones in tissues and in circulation.
Melani F. Melani F. Horm Metab Res. 1974 Jan;6(1):1-8. doi: 10.1055/s-0028-1093893. Horm Metab Res. 1974. PMID: 4362117 Review. No abstract available.
171 results