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Prenatal Brainstem Disruptions: Small Lesions-Big Problems.
Neuropediatrics. 2017 Oct;48(5):350-355. doi: 10.1055/s-0037-1603516. Epub 2017 Jun 1.
Neuropediatrics. 2017.
PMID: 28571098
No abstract available.
A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.
Giarrana ML, Joset P, Sticht H, Robb S, Steindl K, Rauch A, Klein A.
Giarrana ML, et al.
Muscle Nerve. 2015 Oct;52(4):668-73. doi: 10.1002/mus.24687. Epub 2015 Jun 1.
Muscle Nerve. 2015.
PMID: 25900532
Free article.
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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N.
Nashabat M, et al. Among authors: giarrana ml.
Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5.
Nat Commun. 2024.
PMID: 38413582
Free PMC article.
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