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

Year Number of Results
2003 1
2012 4
2013 4
2014 3
2015 8
2016 11
2017 4
2018 7
2019 9
2020 9
2021 13
2022 11
2023 11
2024 2

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82 results

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Page 1
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou C, Juliá-Palacios N, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, García-Cazorla À, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E, Pujol A. Planas-Serra L, et al. Among authors: jou c. J Clin Invest. 2023 May 15;133(10):e162957. doi: 10.1172/JCI162957. J Clin Invest. 2023. PMID: 36951944 Free PMC article.
Histopathology in HCM.
Tejado BSM, Jou C. Tejado BSM, et al. Among authors: jou c. Glob Cardiol Sci Pract. 2018 Aug 12;2018(3):20. doi: 10.21542/gcsp.2018.20. Glob Cardiol Sci Pract. 2018. PMID: 30393632 Free PMC article. Review. No abstract available.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Pathological Features in Paediatric Patients with TK2 Deficiency.
Jou C, Nascimento A, Codina A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero R, Natera-de Benito D, Ortez CI, Marquez J, Zelaya MV, Gutierrez-Mata A, Badosa C, Carrera-García L, Expósito-Escudero J, Roldán M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C, Artuch R. Jou C, et al. Int J Mol Sci. 2022 Sep 20;23(19):11002. doi: 10.3390/ijms231911002. Int J Mol Sci. 2022. PMID: 36232299 Free PMC article.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: jou c. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992
Neuromuscular Manifestations in Mitochondrial Diseases in Children.
Nascimento A, Ortez C, Jou C, O'Callaghan M, Ramos F, Garcia-Cazorla À. Nascimento A, et al. Among authors: jou c. Semin Pediatr Neurol. 2016 Nov;23(4):290-305. doi: 10.1016/j.spen.2016.11.004. Epub 2016 Nov 9. Semin Pediatr Neurol. 2016. PMID: 28284391 Review.
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations.
Suárez-Calvet X, Fernández-Simón E, Natera D, Jou C, Pinol-Jurado P, Villalobos E, Ortez C, Monceau A, Schiava M, Codina A, Verdu-Díaz J, Clark J, Laidler Z, Mehra P, Gokul-Nath R, Alonso-Perez J, Marini-Bettolo C, Tasca G, Straub V, Guglieri M, Nascimento A, Diaz-Manera J. Suárez-Calvet X, et al. Among authors: jou c. Cell Death Dis. 2023 Sep 7;14(9):596. doi: 10.1038/s41419-023-06103-5. Cell Death Dis. 2023. PMID: 37673877 Free PMC article.
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures.
Casas-Alba D, Oliva C, Salgado MDC, Codina A, Agut T, García-Alix A, Garcia-Puig M, García-Cazorla À, Taglialatela M, Jou C, Artuch R, Fons C. Casas-Alba D, et al. Among authors: jou c. Pediatr Neurol. 2022 Mar;128:16-19. doi: 10.1016/j.pediatrneurol.2021.11.013. Epub 2021 Dec 6. Pediatr Neurol. 2022. PMID: 35032885
Chilblains outbreak during COVID-19 pandemic: A Type-I interferonopathy?
Mensa-Vilaró A, Vicente A, Español-Rego M, Antón J, Fabregat V, Fortuny C, González EA, Fumadó V, González-Roca E, Jou C, Plaza S, Mosquera JM, Yagüe J, Prat C, Pascal M, Juan M, Arostegui JI, Baselga E, Alsina L. Mensa-Vilaró A, et al. Among authors: jou c. Pediatr Allergy Immunol. 2022 Oct;33(10):e13860. doi: 10.1111/pai.13860. Pediatr Allergy Immunol. 2022. PMID: 36282139 Free PMC article. No abstract available.
82 results