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

Year Number of Results
1958 1
1963 1
1964 2
1967 1
1968 1
1971 1
1972 1
1974 2
1975 2
1978 1
1979 1
1981 1
1983 1
1984 4
1986 2
1987 1
1990 1
1991 4
1992 3
1993 5
1994 3
1995 5
1996 5
1997 1
1998 2
1999 3
2001 2
2002 2
2003 2
2005 1
2006 4
2007 2
2008 5
2009 2
2010 2
2011 4
2013 2
2014 2
2015 4
2016 5
2017 6
2018 3
2019 7
2020 13
2021 13
2022 6
2023 6
2024 0

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Search Results

129 results

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Page 1
Perampanel as precision therapy in rare genetic epilepsies.
Nissenkorn A, Kluger G, Schubert-Bast S, Bayat A, Bobylova M, Bonanni P, Ceulemans B, Coppola A, Di Bonaventura C, Feucht M, Fuchs A, Gröppel G, Heimer G, Herdt B, Kulikova S, Mukhin K, Nicassio S, Orsini A, Panagiotou M, Pringsheim M, Puest B, Pylaeva O, Ramantani G, Tsekoura M, Ricciardelli P, Lerman Sagie T, Stark B, Striano P, van Baalen A, De Wachter M, Cerulli Irelli E, Cuccurullo C, von Stülpnagel C, Russo A. Nissenkorn A, et al. Among authors: heimer g. Epilepsia. 2023 Apr;64(4):866-874. doi: 10.1111/epi.17530. Epub 2023 Feb 20. Epilepsia. 2023. PMID: 36734057
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Among authors: heimer g. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
MECR-Related Neurologic Disorder.
Heimer G, Gregory A, Hogarth P, Hayflick S, Ben Zeev B. Heimer G, et al. 2019 May 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 May 9. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31070877 Free Books & Documents. Review.
TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability.
Heimer G, Neuser S, Ben-Zeev B, Ebrahimi-Fakhari D. Heimer G, et al. 2022 Sep 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 Sep 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 36137062 Free Books & Documents. Review.
Basal ganglia oscillations and pathophysiology of movement disorders.
Rivlin-Etzion M, Marmor O, Heimer G, Raz A, Nini A, Bergman H. Rivlin-Etzion M, et al. Among authors: heimer g. Curr Opin Neurobiol. 2006 Dec;16(6):629-37. doi: 10.1016/j.conb.2006.10.002. Epub 2006 Nov 3. Curr Opin Neurobiol. 2006. PMID: 17084615 Review.
Clinical phenotypes of infantile onset CACNA1A-related disorder.
Gur-Hartman T, Berkowitz O, Yosovich K, Roubertie A, Zanni G, Macaya A, Heimer G, Dueñas BP, Sival DA, Pode-Shakked B, López-Laso E, Humbertclaude V, Riant F, Bosco L, Cayron LB, Nissenkorn A, Nicita F, Bertini E, Hassin S, Ben Zeev B, Zerem A, Libzon S, Lev D, Linder I, Lerman-Sagie T, Blumkin L. Gur-Hartman T, et al. Among authors: heimer g. Eur J Paediatr Neurol. 2021 Jan;30:144-154. doi: 10.1016/j.ejpn.2020.10.004. Epub 2020 Oct 20. Eur J Paediatr Neurol. 2021. PMID: 33349592
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Kagan M, Semo-Oz R, Ben Moshe Y, Atias-Varon D, Tirosh I, Stern-Zimmer M, Eliyahu A, Raas-Rothschild A, Bivas M, Shlomovitz O, Chorin O, Rock R, Tzadok M, Ben-Zeev B, Heimer G, Bolkier Y, Gruber N, Dagan A, Bar Aluma BE, Pessach IM, Rechavi G, Barel O, Pode-Shakked B, Anikster Y, Vivante A. Kagan M, et al. Among authors: heimer g. Front Genet. 2023 Jan 9;13:1018062. doi: 10.3389/fgene.2022.1018062. eCollection 2022. Front Genet. 2023. PMID: 36699461 Free PMC article.
129 results