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New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
Arteche-López A, Avila-Fernandez A, Damian A, Soengas-Gonda E, de la Fuente RP, Gómez PR, Merlo JG, Burgos LH, Fernández CC, Rosales JML, Martínez JFG, Quesada-Espinosa JF, Corton M, Guerrero-Molina MP. Arteche-López A, et al. Among authors: guerrero molina mp. Clin Genet. 2023 Feb;103(2):236-241. doi: 10.1111/cge.14249. Epub 2022 Nov 3. Clin Genet. 2023. PMID: 36250766
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.
Bermejo-Guerrero L, de Fuenmayor-Fernández de la Hoz CP, Guerrero-Molina MP, Martín-Jiménez P, Blázquez A, Serrano-Lorenzo P, Lora D, Morales-Conejo M, González-Martínez I, López-Jiménez EA, Martín MA, Domínguez-González C. Bermejo-Guerrero L, et al. Among authors: guerrero molina mp. J Clin Med. 2023 Mar 22;12(6):2435. doi: 10.3390/jcm12062435. J Clin Med. 2023. PMID: 36983435 Free PMC article.
High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
Guerrero-Molina MP, Morales-Conejo M, Delmiro A, Morán M, Domínguez-González C, Arranz-Canales E, Ramos-González A, Arenas J, Martín MA, de la Aleja JG. Guerrero-Molina MP, et al. Eur J Neurol. 2023 Feb;30(2):538-547. doi: 10.1111/ene.15626. Epub 2022 Nov 18. Eur J Neurol. 2023. PMID: 36334048
Corrigendum to "Peripapillary retinal nerve fibre layer thinning in genetic generalized epilepsy" [Seizure: European Journal of Epilepsy 71 (2019) 201-206].
González de la Aleja J, Guerrero-Molina MP, Saíz-Díaz RA, López-Muñoz F, Raga-Martínez I, Hernández-Gallego J, Navarrete-Chamorro P, Povedano-Montero FJ. González de la Aleja J, et al. Seizure. 2021 Mar;86:213. doi: 10.1016/j.seizure.2021.02.007. Epub 2021 Feb 26. Seizure. 2021. PMID: 33648868 Free article. No abstract available.
Rapidly progressing dementia as a form of presentation of Cushing syndrome.
Rodríguez-López C, Guerrero Molina MP, Martínez Salio A. Rodríguez-López C, et al. Neurologia (Engl Ed). 2019 Jun;34(5):339-340. doi: 10.1016/j.nrl.2016.09.007. Epub 2016 Oct 22. Neurologia (Engl Ed). 2019. PMID: 27780614 Free article. English, Spanish. No abstract available.
15 results