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Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.
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.
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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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 very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.
Argente-Escrig H, Sánchez-Monteagudo A, Frasquet M, Millet-Sancho E, Martínez-Rubio MD, Pitarch I, Tomás M, Espinós C, Lupo V, Sevilla T.
Argente-Escrig H, et al. Among authors: millet sancho e.
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
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