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Page 1
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D. Dauwerse JG, et al. Among authors: cobo am. Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131976
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.
Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptácek LJ. Donaldson MR, et al. Among authors: cobo am. Neurology. 2003 Jun 10;60(11):1811-6. doi: 10.1212/01.wnl.0000072261.14060.47. Neurology. 2003. PMID: 12796536
Expansion of the myotonic dystrophy gene in Italian and Spanish patients.
Melchionda S, Cobo A, Gennarelli M, Martorell L, Fattorini C, Baiget M, Lopez de Munain A, Johnson K, Shelbourne P, Novelli G, et al. Melchionda S, et al. J Med Genet. 1992 Nov;29(11):789-90. doi: 10.1136/jmg.29.11.789. J Med Genet. 1992. PMID: 1453428 Free PMC article.
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B. Palmio J, et al. Among authors: cobo am. J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21. J Neurol. 2019. PMID: 30666435 Free PMC article.
Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.
Fernández-Torrón R, García-Puga M, Emparanza JI, Maneiro M, Cobo AM, Poza JJ, Espinal JB, Zulaica M, Ruiz I, Martorell L, Otaegui D, Matheu A, López de Munain A. Fernández-Torrón R, et al. Among authors: cobo am. Neurology. 2016 Sep 20;87(12):1250-7. doi: 10.1212/WNL.0000000000003124. Epub 2016 Aug 24. Neurology. 2016. PMID: 27558368
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A. Urtasun M, et al. Among authors: cobo am. Brain. 1998 Sep;121 ( Pt 9):1735-47. doi: 10.1093/brain/121.9.1735. Brain. 1998. PMID: 9762961
[Basic concepts in molecular genetics].
Cobo AM, Poza JJ, Sáenz A, López de Munain A. Cobo AM, et al. Rev Neurol. 1996 Mar;24(127):315-9. Rev Neurol. 1996. PMID: 8742399 Review. Spanish. No abstract available.
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