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

Year Number of Results
1991 1
1992 2
1993 3
1994 4
1995 1
1996 2
1997 2
1998 3
1999 6
2000 5
2001 2
2003 3
2004 2
2005 1
2006 2
2007 4
2008 3
2009 3
2010 9
2011 9
2012 8
2013 12
2014 9
2015 13
2016 15
2017 15
2018 17
2019 15
2020 21
2021 20
2022 14
2023 19
2024 12

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227 results

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Page 1
KMT2A: Umbrella Gene for Multiple Diseases.
Castiglioni S, Di Fede E, Bernardelli C, Lettieri A, Parodi C, Grazioli P, Colombo EA, Ancona S, Milani D, Ottaviano E, Borghi E, Massa V, Ghelma F, Vignoli A, Lesma E, Gervasini C. Castiglioni S, et al. Among authors: vignoli a. Genes (Basel). 2022 Mar 15;13(3):514. doi: 10.3390/genes13030514. Genes (Basel). 2022. PMID: 35328068 Free PMC article. Review.
Myoclonus: Differential diagnosis and current management.
Riva A, D'Onofrio G, Ferlazzo E, Pascarella A, Pasini E, Franceschetti S, Panzica F, Canafoglia L, Vignoli A, Coppola A, Badioni V, Beccaria F, Labate A, Gambardella A, Romeo A, Capovilla G, Michelucci R, Striano P, Belcastro V. Riva A, et al. Among authors: vignoli a. Epilepsia Open. 2024 Apr;9(2):486-500. doi: 10.1002/epi4.12917. Epub 2024 Feb 9. Epilepsia Open. 2024. PMID: 38334331 Free PMC article. Review.
High-Throughput Metabolomics by 1D NMR.
Vignoli A, Ghini V, Meoni G, Licari C, Takis PG, Tenori L, Turano P, Luchinat C. Vignoli A, et al. Angew Chem Int Ed Engl. 2019 Jan 21;58(4):968-994. doi: 10.1002/anie.201804736. Epub 2018 Nov 11. Angew Chem Int Ed Engl. 2019. PMID: 29999221 Free PMC article. Review.
Ictal semiology of gelastic seizures.
Mirandola L, Cantalupo G, d'Orsi G, Meletti S, Vaudano AE, Di Vito L, Vignoli A, Tassi L, Pelliccia V. Mirandola L, et al. Among authors: vignoli a. Epilepsy Behav. 2023 Mar;140:109025. doi: 10.1016/j.yebeh.2022.109025. Epub 2023 Feb 11. Epilepsy Behav. 2023. PMID: 36780776 Review.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, Bilo L, Buti D, Casellato S, Cuccurullo C, Ferlazzo E, Leu C, Giordano L, Gobbi G, Hernandez-Hernandez L, Lench N, Martins H, Meletti S, Messana T, Nigro V, Pinelli M, Pippucci T, Bellampalli R, Salis B, Sofia V, Striano P, Striano S, Tassi L, Vignoli A, Vaudano AE, Viri M, Scheffer IE, May P, Zara F, Sisodiya SM. Coppola A, et al. Among authors: vignoli a. Epilepsia. 2024 Mar;65(3):779-791. doi: 10.1111/epi.17859. Epub 2023 Dec 23. Epilepsia. 2024. PMID: 38088023 Free article.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: vignoli a. Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. Brain. 2024. PMID: 38456468 Free PMC article.
KODAMA exploratory analysis in metabolic phenotyping.
Zinga MM, Abdel-Shafy E, Melak T, Vignoli A, Piazza S, Zerbini LF, Tenori L, Cacciatore S. Zinga MM, et al. Among authors: vignoli a. Front Mol Biosci. 2023 Jan 17;9:1070394. doi: 10.3389/fmolb.2022.1070394. eCollection 2022. Front Mol Biosci. 2023. PMID: 36733493 Free PMC article. Review.
Fingerprinting and profiling in metabolomics of biosamples.
Ghini V, Meoni G, Vignoli A, Di Cesare F, Tenori L, Turano P, Luchinat C. Ghini V, et al. Among authors: vignoli a. Prog Nucl Magn Reson Spectrosc. 2023 Nov-Dec;138-139:105-135. doi: 10.1016/j.pnmrs.2023.10.002. Epub 2023 Oct 18. Prog Nucl Magn Reson Spectrosc. 2023. PMID: 38065666 Review.
Ring chromosome 20.
Daber RD, Conlin LK, Leonard LD, Canevini MP, Vignoli A, Hosain S, Brown LW, Spinner NB. Daber RD, et al. Among authors: vignoli a. Eur J Med Genet. 2012 May;55(5):381-7. doi: 10.1016/j.ejmg.2012.02.004. Epub 2012 Feb 22. Eur J Med Genet. 2012. PMID: 22406087 Free article. Review.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffler M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Stamberger H, et al. Among authors: vignoli a. Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3. Neurology. 2022. PMID: 35851549 Free PMC article.
227 results