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Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study.
Vázquez-Costa JF, Povedano M, Nascimiento-Osorio AE, Moreno Escribano A, Kapetanovic Garcia S, Dominguez R, Exposito JM, González L, Marco C, Medina Castillo J, Muelas N, Natera de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T, Hervás D. Vázquez-Costa JF, et al. Eur J Neurol. 2022 Nov;29(11):3337-3346. doi: 10.1111/ene.15501. Epub 2022 Jul 24. Eur J Neurol. 2022. PMID: 35872571 Free PMC article.
Functional scales (Egen Klassification, EK2; Revised Amyotrophic Lateral Sclerosis Functional Rating Scale, ALSFRS-R) and the percentage predicted forced vital capacity were collected when available. ...Compared with untreated patients, more treated patients experienced cl …
Functional scales (Egen Klassification, EK2; Revised Amyotrophic Lateral Sclerosis Functional Rating Scale, ALSFRS-R) and the percent …
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Vázquez-Costa JF, Morata-Martínez C, Campins-Romeu M, Muelas N, Sastre-Bataller I, Martínez-Torres I, Pérez-García J, Sivera R, Sevilla T, Vilchez JJ, Jaijo T, Espinós C, Millán JM, Bataller L, Aller E. Baviera-Muñoz R, et al. Neurol Genet. 2022 Nov 14;8(6):e200038. doi: 10.1212/NXG.0000000000200038. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36530930 Free PMC article.
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F, Serrano-Lorenzo P, Bermejo-Guerrero L, Blázquez A, Quesada-Espinosa JF, Amigo J, Minguez P, Ayuso C, García-Arumí E, Muelas N, Jaijo T, Nascimento A, Galán-Rodriguez B, Paradas C, Arenas J, Carracedo A, Martí R, Martín MA, Domínguez-González C; for TK2d Spanish-Group. Ceballos F, et al. Neurol Genet. 2024 Mar 25;10(2):e200138. doi: 10.1212/NXG.0000000000200138. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38544965 Free PMC article.
Continuous Subcutaneous Insulin Infusion in Type 1 Diabetes Mellitus Patients: Results from the Spanish National Registry.
Moreno-Fernandez J, Chico A, Martínez-Brocca MA, Beato-Víbora PI, Vidal M, Piedra M, Quirós C, Muñoz-Rodríguez JR; SPAIP Registry Study. Moreno-Fernandez J, et al. Diabetes Technol Ther. 2022 Dec;24(12):898-906. doi: 10.1089/dia.2022.0207. Epub 2022 Sep 6. Diabetes Technol Ther. 2022. PMID: 35947087
We observed an inverse correlation between final HbA1c levels and CGM adherence (R = -0.24, P < 0.001) or percentage of time with active hybrid closed-loop functions (R = -0.25, P < 0.001). ...

We observed an inverse correlation between final HbA1c levels and CGM adherence (R = -0.24, P < 0.001) or percentage of time with

…
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy.
Vázquez-Costa JF, Povedano M, Nascimiento-Osorio AE, Moreno Escribano A, Kapetanovic Garcia S, Dominguez R, Exposito JM, González L, Marco C, Medina Castillo J, Muelas N, Natera de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T, Hervás D. Vázquez-Costa JF, et al. Eur J Neurol. 2022 Dec;29(12):3666-3675. doi: 10.1111/ene.15542. Epub 2022 Sep 13. Eur J Neurol. 2022. PMID: 36047967 Free PMC article.
Bedside functional scales (Egen Klassification [EK2], Revised Amyotrophic Lateral Sclerosis Functional Rating Scale [ALSFRS-R]) were also collected when available. Spearman's rho correlations (rs) and Bangdiwala's concordance test (B) were used to evaluate the scales' cons …
Bedside functional scales (Egen Klassification [EK2], Revised Amyotrophic Lateral Sclerosis Functional Rating Scale [ALSFRS-R]) were …
Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.
Domínguez-González C, Hernández-Voth A, de Fuenmayor-Fernández de la Hoz CP, Guerrero LB, Morís G, García-García J, Muelas N, León Hernández JC, Rabasa M, Lora D, Blázquez A, Arenas J, Martin MÁ. Domínguez-González C, et al. Neuromuscul Disord. 2022 Sep;32(9):728-735. doi: 10.1016/j.nmd.2022.07.399. Epub 2022 Jul 16. Neuromuscul Disord. 2022. PMID: 35907766 Free article.
Disease severity, assessed by age at NIV onset, correlated most strongly at diagnosis with: creatinine levels (r = 0.8036; P = 0.0009), followed by FVC (r = 0.7265; P = 0.0033), mtDNA levels in muscle (r = 0.7933; P = 0.0188), and age at disease onset (r …
Disease severity, assessed by age at NIV onset, correlated most strongly at diagnosis with: creatinine levels (r = 0.8036; P = 0.0009 …
Trends in mortality of hospitalised COVID-19 patients: A single centre observational cohort study from Spain.
Garcia-Vidal C, Cózar-Llistó A, Meira F, Dueñas G, Puerta-Alcalde P, Cilloniz C, Garcia-Pouton N, Chumbita M, Cardozo C, Hernández M, Rico V, Bodro M, Morata L, Castro P, Almuedo-Riera A, García F, Mensa J, Antonio Martínez J, Sanjuan G, Torres A, Nicolás JM, Soriano A; COVID-19-researcher group. Garcia-Vidal C, et al. Lancet Reg Health Eur. 2021 Apr;3:100041. doi: 10.1016/j.lanepe.2021.100041. Epub 2021 Jan 24. Lancet Reg Health Eur. 2021. PMID: 33870249 Free PMC article.
16 results