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A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.
J Neurol Sci. 2019 Jul 15;402:156-161. doi: 10.1016/j.jns.2019.05.015. Epub 2019 May 15.
J Neurol Sci. 2019.
PMID: 31152969
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.
Argente-Escrig H, Frasquet M, Vázquez-Costa JF, Millet-Sancho E, Pitarch I, Tomás-Vila M, Espinós C, Lupo V, Sevilla T.
Argente-Escrig H, et al. Among authors: millet sancho e.
Ann Clin Transl Neurol. 2021 Sep;8(9):1809-1816. doi: 10.1002/acn3.51432. Epub 2021 Jul 29.
Ann Clin Transl Neurol. 2021.
PMID: 34323022
Free PMC article.
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A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Argente-Escrig H, Vílchez JJ, Frasquet M, Muelas N, Azorín I, Vílchez R, Millet-Sancho E, Pitarch I, Tomás-Vila M, Vázquez-Costa JF, Mas-Estellés F, Marco-Marín C, Espinós C, Serrano-Lorenzo P, Martin MA, Lupo V, Sevilla T.
Argente-Escrig H, et al. Among authors: millet sancho e.
Neuropathol Appl Neurobiol. 2022 Aug;48(5):e12817. doi: 10.1111/nan.12817. Epub 2022 Apr 10.
Neuropathol Appl Neurobiol. 2022.
PMID: 35342985
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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: millet sancho e.
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.
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