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The XLMR gene ACSL4 plays a role in dendritic spine architecture.
Meloni I, Parri V, De Filippis R, Ariani F, Artuso R, Bruttini M, Katzaki E, Longo I, Mari F, Bellan C, Dotti CG, Renieri A. Meloni I, et al. Among authors: renieri a. Neuroscience. 2009 Mar 17;159(2):657-69. doi: 10.1016/j.neuroscience.2008.11.056. Epub 2008 Dec 24. Neuroscience. 2009. PMID: 19166906
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M. Renieri A, et al. Am J Med Genet. 1995 Nov 20;59(3):380-5. doi: 10.1002/ajmg.1320590320. Am J Med Genet. 1995. PMID: 8599366
Molecular diagnosis of Alport syndrome: the experience in Siena.
Renieri A, Bruttini M, Piccini M, Bruno M, Cecconi M, Conti M, Coppo R, La Manna A, Trivelli A, De Marchi M, Ballabio A. Renieri A, et al. Contrib Nephrol. 1997;122:132-3. doi: 10.1159/000059882. Contrib Nephrol. 1997. PMID: 9399055 No abstract available.
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study.
Federico A, Dotti MT, Cardaioli E, Grieco G, Malandrini A, Manneschi L, Plewnia K, Rufa A, Renieri A, Bruttini M, Perticoni GF. Federico A, et al. Among authors: renieri a. J Submicrosc Cytol Pathol. 1998 Oct;30(4):521-6. J Submicrosc Cytol Pathol. 1998. PMID: 9851061
436 results