Cartegni L, Hastings M, Calarco J, de Stanchina E, Krainer A; Determinants of Exon 7 Identity in the Spinal Muscular Atrophy Genes, SMN1 and SMN2. Am J Hum Genet. 2006 Jan;78(1):63-77. Epub 2005 Nov 16.
Wicklow BA, Ivanovich J, Noetzel M, Leuder G, Cartegni L, Steiner RD, Triggs-Raine BL. Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. Am J Med Genet. 2004;127A:158-166.
Cartegni L, Krainer AR. Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol. 2003;10:120-125.
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: a Web resource to indentify exonic splicing enhancers. Nucleic Acids Res. 2003;31:3568-3571.
Cartegni L, Krainer AR. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet. 2002;30:377-384.
Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 2002;3:285-298.
Dance GS, Sowden MP, Cartegni L, Cooper E, Krainer AR, Smith HC. Two proteins essential for apolipoprotein B mRNA editing are expressed from a single gene through alternative splicing. J Biol Chem. 2002;277:12703-12709.
Fackenthal JD, Cartegni L, Krainer A, Olopade OI. BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet. 2002;71:625-631.
Liu HX, Cartegni L, Zhang MQ, Krainer AR. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet. 2001;27:55-58.
Liu HX, Chew SL, Cartegni L, Zhang MQ, Krainer AR. Exonic splicing enhancer motif recognized by human SC35 under splicing conditions. Mol Cell Biol. 2000;20:1063-1071.
Weighardt F, Cobianchi F, Cartegni L, Chiodi I, Villa A, Riva S, Biamonti G. A novel hnRNP protein (HAP/SAF-B) enters a subset of hnRNP complexes and relocates in nuclear granules in response to heat shock. J Cell Sci. 1999;112:1465-1476.
Sabatelli P, Squarzoni S, Petrini S, Capanni C, Ognibene A, Cartegni L, Cobianchi F, Merlini L, Toniolo D, Maraldi NM. Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. Neuromuscul Disord. 1998;8:67-71.
Cartegni L, di Barletta MR, Barresi R, Squarzoni S, Sabatelli P, Maraldi N, Mora M, Di Blasi C, Cornelio F, Merlini L, Villa A, Cobianchi F, Toniolo D. Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet. 1997;6:2257-2264.
Squarzoni S, Sabatelli P, Ognibene A, Toniolo D, Cartegni L, Cobianchi F, Petrini S, Merlini L, Maraldi NM. Immunocytochemical detection of emerin within the nuclear matrix. Neuromuscul Disord. 1998;8:338-344.
Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D. X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. Ann Neurol. 1997;42:249-253.
Cartegni L, Maconi M, Morandi E, Cobianchi F, Riva S, Biamonti G. hnRNP A1 selectively interacts through its Gly-rich domain with different RNA-binding proteins. J Mol Biol. 1996;259:337-48.
Biamonti G, Bassi MT, Cartegni L, Mechta F, Buvoli M, Cobianchi F, Riva S. Human hnRNP protein A1 gene expression. Structural and functional characterization of the promoter. J Mol Biol. 1993;230:77-89.
