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Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.
Sivera Mascaró R, García Sobrino T, Horga Hernández A, Pelayo Negro AL, Alonso Jiménez A, Antelo Pose A, Calabria Gallego MD, Casasnovas C, Cemillán Fernández CA, Esteban Pérez J, Fenollar Cortés M, Frasquet Carrera M, Gallano Petit MP, Giménez Muñoz A, Gutiérrez Gutiérrez G, Gutiérrez Martínez A, Juntas Morales R, Ciano-Petersen NL, Martínez Ulloa PL, Mederer Hengstl S, Millet Sancho E, Navacerrada Barrero FJ, Navarrete Faubel FE, Pardo Fernández J, Pascual Pascual SI, Pérez Lucas J, Pino Mínguez J, Rabasa Pérez M, Sánchez González M, Sotoca J, Rodríguez Santiago B, Rojas García R, Turon-Sans J, Vicent Carsí V, Sevilla Mantecón T. Sivera Mascaró R, et al. Among authors: martinez ulloa pl. Neurologia (Engl Ed). 2024 Mar 1:S2173-5808(24)00047-6. doi: 10.1016/j.nrleng.2024.02.008. Online ahead of print. Neurologia (Engl Ed). 2024. PMID: 38431252 Free article.
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
Hedrich UBS, Lauxmann S, Wolff M, Synofzik M, Bast T, Binelli A, Serratosa JM, Martínez-Ulloa P, Allen NM, King MD, Gorman KM, Zeev BB, Tzadok M, Wong-Kisiel L, Marjanovic D, Rubboli G, Sisodiya SM, Lutz F, Ashraf HP, Torge K, Yan P, Bosselmann C, Schwarz N, Fudali M, Lerche H. Hedrich UBS, et al. Among authors: martinez ulloa p. Sci Transl Med. 2021 Sep;13(609):eaaz4957. doi: 10.1126/scitranslmed.aaz4957. Epub 2021 Sep 1. Sci Transl Med. 2021. PMID: 34516822
PLA2G6 -Associated Neurodegeneration: Report of a Novel Mutation in Two Siblings with Strikingly Different Clinical Presentation.
Pérez-Torre P, Escobar Villalba A, Martínez Ulloa P, Kawiorski M, Jiménez-Escrig A, Bazán E, Gonzalo-Gobernado R, Herranz AS. Pérez-Torre P, et al. Among authors: martinez ulloa p. Mov Disord Clin Pract. 2016 Nov 4;4(1):129-131. doi: 10.1002/mdc3.12419. eCollection 2017 Jan-Feb. Mov Disord Clin Pract. 2016. PMID: 30713958 Free PMC article. No abstract available.
Acute myelitis by human herpes virus 7 in an HIV-infected patient.
Escobar-Villalba A, Sainz de la Maza S, Pérez Torre P, Galán JC, Rodríguez-Domínguez M, Monreal Laguillo E, Martínez Ulloa PL, Buisán Catevilla J, Corral I. Escobar-Villalba A, et al. Among authors: martinez ulloa pl. J Clin Virol. 2016 Apr;77:63-5. doi: 10.1016/j.jcv.2016.02.001. Epub 2016 Feb 11. J Clin Virol. 2016. PMID: 26906233 Review.