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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307.
Brain. 2020.
PMID: 32979048
Free PMC article.
Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy.
Brea-Fernández AJ, Cabanas P, Dacruz-Álvarez D, Caamaño P, Limeres J, Loidi L.
Brea-Fernández AJ, et al. Among authors: dacruz alvarez d.
J Hum Genet. 2019 Nov;64(11):1133-1136. doi: 10.1038/s10038-019-0664-7. Epub 2019 Sep 3.
J Hum Genet. 2019.
PMID: 31481716
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Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.
Castro-Gago M, Dacruz-Alvarez D, Pintos-Martínez E, Beiras-Iglesias A, Delmiro A, Arenas J, Martín MÁ, Martínez-Azorín F.
Castro-Gago M, et al. Among authors: dacruz alvarez d.
Eur J Paediatr Neurol. 2014 Nov;18(6):796-800. doi: 10.1016/j.ejpn.2014.06.005. Epub 2014 Jun 20.
Eur J Paediatr Neurol. 2014.
PMID: 24997086
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Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.
Castro-Gago M, Dacruz-Alvarez D, Pintos-Martínez E, Beiras-Iglesias A, Arenas J, Martín MÁ, Martínez-Azorín F.
Castro-Gago M, et al. Among authors: dacruz alvarez d.
Brain Dev. 2016 Jan;38(1):167-72. doi: 10.1016/j.braindev.2015.05.008. Epub 2015 May 23.
Brain Dev. 2016.
PMID: 26006750
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Corrigendum to "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene" [Brain Dev. 38 (2016) 167-172].
Castro-Gago M, Dacruz-Alvarez D, Pintos-Martínez E, Beiras-Iglesias A, Arenas J, Martín MÁ, Martínez-Azorín F.
Castro-Gago M, et al. Among authors: dacruz alvarez d.
Brain Dev. 2016 Sep;38(8):783. doi: 10.1016/j.braindev.2016.04.009. Epub 2016 Apr 29.
Brain Dev. 2016.
PMID: 27138744
No abstract available.
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Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis.
Armangue T, Spatola M, Vlagea A, Mattozzi S, Cárceles-Cordon M, Martinez-Heras E, Llufriu S, Muchart J, Erro ME, Abraira L, Moris G, Monros-Giménez L, Corral-Corral Í, Montejo C, Toledo M, Bataller L, Secondi G, Ariño H, Martínez-Hernández E, Juan M, Marcos MA, Alsina L, Saiz A, Rosenfeld MR, Graus F, Dalmau J; Spanish Herpes Simplex Encephalitis Study Group.
Armangue T, et al.
Lancet Neurol. 2018 Sep;17(9):760-772. doi: 10.1016/S1474-4422(18)30244-8. Epub 2018 Jul 23.
Lancet Neurol. 2018.
PMID: 30049614
Free PMC article.
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