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Year Number of Results
1955 2
1956 2
1958 1
1960 1
1962 1
1973 1
1976 1
1990 1
2002 2
2003 2
2005 2
2006 2
2007 1
2008 4
2009 4
2010 2
2011 4
2012 2
2013 10
2014 8
2015 6
2016 4
2017 3
2018 1
2019 5
2020 2
2021 3
2022 3
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2025 5

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78 results

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Page 1
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M. Poggio E, et al. Among authors: cazorla ag. Genet Med. 2023 Dec;25(12):100971. doi: 10.1016/j.gim.2023.100971. Epub 2023 Sep 4. Genet Med. 2023. PMID: 37675773 Free article.
[Chordoma].
George B, Bresson D, Bouazza S, Froelich S, Mandonnet E, Hamdi S, Orabi M, Polivka M, Cazorla A, Adle-Biassette H, Guichard JP, Duet M, Gayat E, Vallée F, Canova CH, Riet F, Bolle S, Calugaru V, Dendale R, Mazeron JJ, Feuvret L, Boissier E, Vignot S, Puget S, Sainte-Rose C, Beccaria K. George B, et al. Among authors: cazorla a. Neurochirurgie. 2014 Jun;60(3):63-140. doi: 10.1016/j.neuchi.2014.02.003. Epub 2014 May 23. Neurochirurgie. 2014. PMID: 24856008 Review. French.
Early mortality in STXBP1-related disorders.
Furia F, Rigby CS, Scheffer IE, Allen N, Baker K, Hengsbach C, Kegele J, Goss J, Gorman K, Mala MI, Nicita F, Allan T, Spalice A, Weber Y; European STXBP1 consortium (ESCO); STXBP1 foundation; Rubboli G, Møller RS, Gardella E. Furia F, et al. Neurol Sci. 2025 Mar;46(3):1339-1347. doi: 10.1007/s10072-024-07783-3. Epub 2024 Oct 11. Neurol Sci. 2025. PMID: 39392525 Free PMC article.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
Roubertie A, Opladen T, Brennenstuhl H, Kuseyri Hübschmann O, Flint L, Willemsen MA, Leuzzi V, Cazorla AG, Kurian MA, François-Heude MC, Hwu P, Zeev BB, Kiening K, Roujeau T, Pons R, Pearson TS. Roubertie A, et al. Among authors: cazorla ag. J Inherit Metab Dis. 2024 May;47(3):463-475. doi: 10.1002/jimd.12649. Epub 2023 Jul 17. J Inherit Metab Dis. 2024. PMID: 37402126 Review.
Tumor-Infiltrating Lymphocytes and Immune Response in HER2-Positive Breast Cancer.
Luque M, Sanz-Álvarez M, Morales-Gallego M, Madoz-Gúrpide J, Zazo S, Domínguez C, Cazorla A, Izarzugaza Y, Arranz JL, Cristóbal I, Rojo F. Luque M, et al. Among authors: cazorla a. Cancers (Basel). 2022 Dec 8;14(24):6034. doi: 10.3390/cancers14246034. Cancers (Basel). 2022. PMID: 36551522 Free PMC article. Review.
78 results