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Page 1
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Scoto M, et al. Among authors: martinez arroyo a. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609763 Free PMC article.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Péréon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, Franques J, Suetterlin K, Hanna MG, Guyant-Marechal L, Snoeck MM, Roberts ME, Kuntzer T, Fernandez-Torron R, Martínez-Arroyo A, Seeger J, Kusters B, Treves S, van Engelen BG, Eymard B, Voermans NC, Sternberg D. Molenaar JP, et al. Among authors: martinez arroyo a. Brain. 2020 Feb 1;143(2):452-466. doi: 10.1093/brain/awz410. Brain. 2020. PMID: 32040565 Free PMC article.
A 69-year-old woman with a "sweet" cause of instability.
Bocos-Portillo J, Ruisanchez A, Vazquez-Picon R, Martinez-Arroyo A, Pinedo-Brochado A, Gomez-Beldarrain M, Garcia-Monco JC. Bocos-Portillo J, et al. Among authors: martinez arroyo a. Neurol Clin Pract. 2015 Aug;5(4):352-354. doi: 10.1212/CPJ.0000000000000140. Neurol Clin Pract. 2015. PMID: 29443229 Free PMC article. No abstract available.
[Spinal cord hemorrhage complicating diagnostic lumbar puncture].
Sánchez-Menoyo JL, Ruiz-Ojeda J, Martínez-Arroyo A, García-Moncó JC, Aduna-De Paz M, Vicente-Olabarría I. Sánchez-Menoyo JL, et al. Among authors: martinez arroyo a. Rev Neurol. 2009 Apr 16-30;48(8):418-20. Rev Neurol. 2009. PMID: 19340782 Free article. Spanish.
Influenza-associated seizures in healthy adults: Report of 3 cases.
Ruisanchez-Nieva A, Martinez-Arroyo A, Gomez-Beldarrain M, Bocos Portillo J, Garcia-Monco JC. Ruisanchez-Nieva A, et al. Among authors: martinez arroyo a. Epilepsy Behav Case Rep. 2017 Feb 6;8:12-13. doi: 10.1016/j.ebcr.2017.01.003. eCollection 2017. Epilepsy Behav Case Rep. 2017. PMID: 28652973 Free PMC article.
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.
Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z. Gutiérrez-Rivas E, et al. Among authors: martinez arroyo a. Neuromuscul Disord. 2015 Jul;25(7):548-53. doi: 10.1016/j.nmd.2015.04.008. Epub 2015 Apr 23. Neuromuscul Disord. 2015. PMID: 25998610
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
The goblet sign in the amnestic syndrome of the subcallosal artery infarct.
Pardina-Vilella L, Pinedo-Brochado A, Vicente I, Bocos-Portillo J, Martínez-Arroyo A, Ontañon JM, Gómez-Beldarrain M, García-Moncó JC. Pardina-Vilella L, et al. Among authors: martinez arroyo a. Neurol Sci. 2018 Aug;39(8):1463-1465. doi: 10.1007/s10072-018-3425-z. Epub 2018 May 1. Neurol Sci. 2018. PMID: 29713937
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z. Gutiérrez-Rivas E, et al. Among authors: martinez arroyo a. J Neuromuscul Dis. 2015;2(s1):S42. J Neuromuscul Dis. 2015. PMID: 27858636 No abstract available.
34 results