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

Year Number of Results
2002 1
2011 2
2012 3
2013 2
2014 2
2015 4
2016 2
2017 1
2018 1
2019 2
2021 2
2023 1
2024 0

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20 results

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Page 1
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S, Fernández-Pombo A, Cobelo-Gómez S, Hermida-Ameijeiras Á, Alarcón-Martínez H, Domingo-Jiménez R, Ruíz Riquelme AI, Requena JR, Araújo-Vilar D. Sánchez-Iglesias S, et al. Among authors: domingo jimenez r. J Clin Med. 2021 Apr 1;10(7):1435. doi: 10.3390/jcm10071435. J Clin Med. 2021. PMID: 33916074 Free PMC article. Review.
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation.
Tristán-Noguero A, Fernández-Carasa I, Calatayud C, Bermejo-Casadesús C, Pons-Espinal M, Colini Baldeschi A, Campa L, Artigas F, Bortolozzi A, Domingo-Jiménez R, Ibáñez S, Pineda M, Artuch R, Raya Á, García-Cazorla À, Consiglio A. Tristán-Noguero A, et al. Among authors: domingo jimenez r. EMBO Mol Med. 2023 Mar 8;15(3):e15847. doi: 10.15252/emmm.202215847. Epub 2023 Feb 6. EMBO Mol Med. 2023. PMID: 36740977 Free PMC article.
A new seipin-associated neurodegenerative syndrome.
Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D. Guillén-Navarro E, et al. Among authors: domingo jimenez r. J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6. J Med Genet. 2013. PMID: 23564749
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Kuseyri Hübschmann O, Mohr A, Friedman J, Manti F, Horvath G, Cortès-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, García-Cazorla A, Opladen T; International Working Group on Neurotransmitter Related Disorders (iNTD); Harting I. Kuseyri Hübschmann O, et al. Among authors: domingo jimenez r. J Inherit Metab Dis. 2021 Jul;44(4):1070-1082. doi: 10.1002/jimd.12360. Epub 2021 Jan 28. J Inherit Metab Dis. 2021. PMID: 33443316 Free article.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C. Medrano C, et al. Among authors: domingo jimenez mr. Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30653653
Epilepsy in biotinidase deficiency after biotin treatment.
Micó SI, Jiménez RD, Salcedo EM, Martínez HA, Mira AP, Fernández CC. Micó SI, et al. Among authors: jimenez rd. JIMD Rep. 2012;4:75-8. doi: 10.1007/8904_2011_74. Epub 2011 Nov 4. JIMD Rep. 2012. PMID: 23430899 Free PMC article.
[Neurological complications in the population of children with leukaemia].
Martínez-Cayuelas E, Domingo-Jiménez R, Pascual-Gázquez JF, Martínez-Salcedo E, Alarcón-Martínez H, Bermúdez-Cortés M, Fuster-Soler JL, Pérez-Fernández V. Martínez-Cayuelas E, et al. Among authors: domingo jimenez r. Rev Neurol. 2015 Feb 1;60(3):108-14. Rev Neurol. 2015. PMID: 25624086 Free article. Spanish.
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S, Crocker M, O'Callaghan M, Darling A, García-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ, Araújo-Vilar D. Sánchez-Iglesias S, et al. Among authors: domingo jimenez r. Neurogenetics. 2019 May;20(2):73-82. doi: 10.1007/s10048-019-00574-5. Epub 2019 Mar 23. Neurogenetics. 2019. PMID: 30903322 Free PMC article.
20 results