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Year | Number of Results |
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2021 | 1 |
2022 | 2 |
2023 | 3 |
2024 | 0 |
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Page 1
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.
Neuromuscul Disord. 2023 Jun;33(6):463-467. doi: 10.1016/j.nmd.2023.02.010. Epub 2023 Feb 23.
Neuromuscul Disord. 2023.
PMID: 37119590
Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.
Llauradó A, Rovira-Moreno E, Codina-Solà M, Martínez-Saez E, Salvadó M, Sanchez-Tejerina D, Sotoca J, López-Diego V, Restrepo-Vera JL, Garcia-Arumi E, Juntas-Morales R.
Llauradó A, et al. Among authors: restrepo vera jl.
Clin Genet. 2023 Apr;103(4):492-494. doi: 10.1111/cge.14287. Epub 2022 Dec 28.
Clin Genet. 2023.
PMID: 36544354
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An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature.
Sánchez-Tejerina D, Restrepo-Vera JL, Rovira-Moreno E, Codina-Sola M, Llauradó A, Sotoca J, Salvado M, Raguer N, García-Arumí E, Juntas-Morales R.
Sánchez-Tejerina D, et al. Among authors: restrepo vera jl.
Genes (Basel). 2022 Aug 19;13(8):1483. doi: 10.3390/genes13081483.
Genes (Basel). 2022.
PMID: 36011394
Free PMC article.
Review.
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COVID-19 in multiple sclerosis patients: susceptibility, severity risk factors and serological response.
Zabalza A, Cárdenas-Robledo S, Tagliani P, Arrambide G, Otero-Romero S, Carbonell-Mirabent P, Rodriguez-Barranco M, Rodríguez-Acevedo B, Restrepo Vera JL, Resina-Salles M, Midaglia L, Vidal-Jordana A, Río J, Galan I, Castillo J, Cobo-Calvo Á, Comabella M, Nos C, Sastre-Garriga J, Tintore M, Montalban X.
Zabalza A, et al. Among authors: restrepo vera jl.
Eur J Neurol. 2021 Oct;28(10):3384-3395. doi: 10.1111/ene.14690. Epub 2021 Jan 9.
Eur J Neurol. 2021.
PMID: 33340215
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Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Restrepo-Vera JL, Rovira-Moreno E, Ramón J, Codina-Sola M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, Martí R, García-Arumí E, Juntas-Morales R.
Restrepo-Vera JL, et al.
J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23.
J Hum Genet. 2023.
PMID: 36959467
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