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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5.
Nat Commun. 2024.
PMID: 38413582
Free PMC article.
Pediatric Autoimmune Encephalitis: Practical Aspects.
Ioghen MR, Epure DA, Teleanu RI.
Ioghen MR, et al. Among authors: epure da.
Maedica (Bucur). 2020 Dec;15(4):517-520. doi: 10.26574/maedica.2020.15.4.517.
Maedica (Bucur). 2020.
PMID: 33603910
Free PMC article.
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Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P, Damborenea A, Ioghen M, Bajew S, Fernandez-Torrón R, Töpf A, Herrero-Reiriz Á, Epure D, Vill K, Hernández-Laín A, Manterola M, Azkargorta M, Pikatza-Menoio O, Pérez-Fernandez L, García-Puga M, Gaina G, Bastian A, Streata I, Walter MC, Müller-Felber W, Thiele S, Moragón S, Bastida-Lertxundi N, López-Cortajarena A, Elortza F, Gereñu G, Alonso-Martin S, Straub V, de Sancho D, Teleanu R, López de Munain A, Blázquez L.
Iruzubieta P, et al.
Brain. 2024 Feb 15:awae046. doi: 10.1093/brain/awae046. Online ahead of print.
Brain. 2024.
PMID: 38366623
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Treatment of Pediatric Migraine: a Review.
Teleanu RI, Vladacenco O, Teleanu DM, Epure DA.
Teleanu RI, et al. Among authors: epure da.
Maedica (Bucur). 2016 Jun;11(2):136-143.
Maedica (Bucur). 2016.
PMID: 28461833
Free PMC article.
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Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures.
Teleanu RI, Sarman MA, Epure DA, Matei M, Roşca I, Roza E.
Teleanu RI, et al. Among authors: epure da.
Children (Basel). 2023 Jun 3;10(6):1011. doi: 10.3390/children10061011.
Children (Basel). 2023.
PMID: 37371242
Free PMC article.
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The Importance of Implementing a Transition Strategy for Patients with Muscular Dystrophy: From Child to Adult-Insights from a Tertiary Centre for Rare Neurological Diseases.
Lupu M, Ioghen M, Perjoc RȘ, Scarlat AM, Vladâcenco OA, Roza E, Epure DA, Teleanu RI, Severin EM.
Lupu M, et al. Among authors: epure da.
Children (Basel). 2023 May 28;10(6):959. doi: 10.3390/children10060959.
Children (Basel). 2023.
PMID: 37371191
Free PMC article.
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