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

Year Number of Results
1949 1
1950 5
1951 3
1952 2
1954 2
1955 1
1957 1
1963 1
1967 1
1968 1
1974 1
1975 3
1978 2
1979 1
1981 1
1982 2
1983 1
1984 3
1985 2
1986 4
1987 1
1988 10
1989 7
1990 12
1991 12
1992 16
1993 11
1994 8
1995 4
1996 9
1997 12
1998 9
1999 10
2000 8
2001 19
2002 11
2003 10
2004 13
2005 12
2006 14
2007 17
2008 16
2009 20
2010 22
2011 28
2012 27
2013 28
2014 28
2015 35
2016 36
2017 44
2018 36
2019 43
2020 53
2021 55
2022 47
2023 55
2024 11

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Search Results

762 results

Results by year

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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: marini c. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Duy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T Jr, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT. Duy PQ, et al. Among authors: marini c. Nat Neurosci. 2022 Apr;25(4):458-473. doi: 10.1038/s41593-022-01043-3. Epub 2022 Apr 4. Nat Neurosci. 2022. PMID: 35379995 Free PMC article.
Generalized epilepsies.
Guerrini R, Marini C, Barba C. Guerrini R, et al. Among authors: marini c. Handb Clin Neurol. 2019;161:3-15. doi: 10.1016/B978-0-444-64142-7.00038-2. Handb Clin Neurol. 2019. PMID: 31307608 Review.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: marini c. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Hum Mutat. 2020. PMID: 31513310 Free article. Review.
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium; Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. Burgess R, et al. Among authors: marini c. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. Ann Neurol. 2019. PMID: 31618474 Free PMC article.
Tricuspid valve imaging.
Ancona F, Stella S, Capogrosso C, Marini C, Fisicaro A, Margonato A, Denti P, Agricola E. Ancona F, et al. Among authors: marini c. Minerva Cardioangiol. 2018 Dec;66(6):680-690. doi: 10.23736/S0026-4725.18.04698-4. Epub 2018 Apr 11. Minerva Cardioangiol. 2018. PMID: 29642695 Review.
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. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.
Levetiracetam vs Lamotrigine as First-Line Antiseizure Medication in Female Patients With Idiopathic Generalized Epilepsy.
Cerulli Irelli E, Cocchi E, Morano A, Gesche J, Caraballo RH, Lattanzi S, Strigaro G, Catania C, Ferlazzo E, Pascarella A, Casciato S, Quarato P, Pizzanelli C, Pulitano P, Giuliano L, Viola V, Mostacci B, Fortunato F, Marini C, Di Gennaro G, Gambardella A, Labate A, Operto FF, Giallonardo AT, Baykan B, Beier CP, Di Bonaventura C; Women With Epilepsy Treatment Options and Research (WETOR) Study Group. Cerulli Irelli E, et al. Among authors: marini c. JAMA Neurol. 2023 Nov 1;80(11):1174-1181. doi: 10.1001/jamaneurol.2023.3400. JAMA Neurol. 2023. PMID: 37782485
Pancreatic trauma: Management and literature review.
Petrone P, Moral Álvarez S, González Pérez M, Ceballos Esparragón J, Marini CP. Petrone P, et al. Among authors: marini cp. Cir Esp. 2017 Mar;95(3):123-130. doi: 10.1016/j.ciresp.2016.05.011. Epub 2016 Aug 12. Cir Esp. 2017. PMID: 27480036 Review. English, Spanish.
Interventional Imaging of the Tricuspid Valve.
Ancona F, Agricola E, Stella S, Capogrosso C, Marini C, Margonato A, Hahn RT. Ancona F, et al. Among authors: marini c. Interv Cardiol Clin. 2018 Jan;7(1):13-29. doi: 10.1016/j.iccl.2017.08.010. Interv Cardiol Clin. 2018. PMID: 29157520 Review.
762 results