Merla G - Search Results

1

PIGN encephalopathy: Characterizing the epileptology.

Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: merla g. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230

2

The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages.

Romagnoli A, Di Rienzo M, Petruccioli E, Fusco C, Palucci I, Micale L, Mazza T, Delogu G, Merla G, Goletti D, Piacentini M, Fimia GM. Romagnoli A, et al. Among authors: merla g. Cell Death Dis. 2023 Aug 5;14(8):505. doi: 10.1038/s41419-023-06026-1. Cell Death Dis. 2023. PMID: 37543647 Free PMC article.

3

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.

Merla G, Howald C, Antonarakis SE, Reymond A. Merla G, et al. Hum Mol Genet. 2004 Jul 15;13(14):1505-14. doi: 10.1093/hmg/ddh163. Epub 2004 May 26. Hum Mol Genet. 2004. PMID: 15163635

4

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.

Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A. Merla G, et al. Am J Hum Genet. 2006 Aug;79(2):332-41. doi: 10.1086/506371. Epub 2006 Jun 23. Am J Hum Genet. 2006. PMID: 16826523 Free PMC article.

5

Side effects of genome structural changes.

Reymond A, Henrichsen CN, Harewood L, Merla G. Reymond A, et al. Among authors: merla g. Curr Opin Genet Dev. 2007 Oct;17(5):381-6. doi: 10.1016/j.gde.2007.08.009. Epub 2007 Oct 24. Curr Opin Genet Dev. 2007. PMID: 17913489 Review.

6

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

Ferrero GB, Howald C, Micale L, Biamino E, Augello B, Fusco C, Turturo MG, Forzano S, Reymond A, Merla G. Ferrero GB, et al. Among authors: merla g. Eur J Hum Genet. 2010 Jan;18(1):33-8. doi: 10.1038/ejhg.2009.108. Eur J Hum Genet. 2010. PMID: 19568270 Free PMC article.

7

Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.

Henrichsen CN, Csárdi G, Zabot MT, Fusco C, Bergmann S, Merla G, Reymond A. Henrichsen CN, et al. Among authors: merla g. PLoS Comput Biol. 2011 Jan 20;7(1):e1001054. doi: 10.1371/journal.pcbi.1001054. PLoS Comput Biol. 2011. PMID: 21304579 Free PMC article.

8

TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.

Alfaiz AA, Micale L, Mandriani B, Augello B, Pellico MT, Chrast J, Xenarios I, Zelante L, Merla G, Reymond A. Alfaiz AA, et al. Among authors: merla g. Hum Mutat. 2014 Apr;35(4):447-51. doi: 10.1002/humu.22529. Hum Mutat. 2014. PMID: 24515783

9

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. Lodder EM, et al. Among authors: merla g. Am J Hum Genet. 2016 Sep 1;99(3):704-710. doi: 10.1016/j.ajhg.2016.06.025. Epub 2016 Aug 11. Am J Hum Genet. 2016. PMID: 27523599 Free PMC article.

10

Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants.

Vernon H, Cohen J, De Nittis P, Fatemi A, McClellan R, Goldstein A, Malerba N, Guex N, Reymond A, Merla G. Vernon H, et al. Among authors: merla g. Clin Genet. 2018 Jun;93(6):1254-1256. doi: 10.1111/cge.13194. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29368331

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