Ronchi D - Search Results

1

TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models.

Longo M, Meroni M, Paolini E, Erconi V, Carli F, Fortunato F, Ronchi D, Piciotti R, Sabatini S, Macchi C, Alisi A, Miele L, Soardo G, Comi GP, Valenti L, Ruscica M, Fracanzani AL, Gastaldelli A, Dongiovanni P. Longo M, et al. Among authors: ronchi d. Cell Mol Gastroenterol Hepatol. 2022;13(3):759-788. doi: 10.1016/j.jcmgh.2021.11.007. Epub 2021 Nov 23. Cell Mol Gastroenterol Hepatol. 2022. PMID: 34823063 Free PMC article.

2

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.

Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP. Guglieri M, et al. Among authors: d angelo mg, ronchi d. Hum Mutat. 2008 Feb;29(2):258-66. doi: 10.1002/humu.20642. Hum Mutat. 2008. PMID: 17994539

3

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP. Virgilio R, et al. Among authors: ronchi d. J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575922

4

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy.

Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Ronchi D, Saladino F, Bordoni A, Fortunato F, Del Bo R, Papadimitriou D, Locatelli F, Menozzi G, Strazzer S, Bresolin N, Comi GP. Corti S, et al. Among authors: ronchi d. J Clin Invest. 2008 Oct;118(10):3316-30. doi: 10.1172/JCI35432. J Clin Invest. 2008. PMID: 18769634 Free PMC article.

5

Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction.

Corti S, Donadoni C, Ronchi D, Bordoni A, Fortunato F, Santoro D, Del Bo R, Lucchini V, Crugnola V, Papadimitriou D, Salani S, Moggio M, Bresolin N, Comi GP. Corti S, et al. Among authors: ronchi d. J Neurol Sci. 2009 Jan 15;276(1-2):170-4. doi: 10.1016/j.jns.2008.09.030. Epub 2008 Nov 8. J Neurol Sci. 2009. PMID: 19000626

6

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

Crugnola V, Lamperti C, Lucchini V, Ronchi D, Peverelli L, Prelle A, Sciacco M, Bordoni A, Fassone E, Fortunato F, Corti S, Silani V, Bresolin N, Di Mauro S, Comi GP, Moggio M. Crugnola V, et al. Among authors: ronchi d. Arch Neurol. 2010 Jul;67(7):849-54. doi: 10.1001/archneurol.2010.128. Arch Neurol. 2010. PMID: 20625092

7

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms.

Nizzardo M, Nardini M, Ronchi D, Salani S, Donadoni C, Fortunato F, Colciago G, Falcone M, Simone C, Riboldi G, Govoni A, Bresolin N, Comi GP, Corti S. Nizzardo M, et al. Among authors: ronchi d. Exp Neurol. 2011 Jun;229(2):214-25. doi: 10.1016/j.expneurol.2011.01.017. Epub 2011 Feb 2. Exp Neurol. 2011. PMID: 21295027

8

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.

Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP. Ronchi D, et al. BMC Neurol. 2011 Jul 12;11:85. doi: 10.1186/1471-2377-11-85. BMC Neurol. 2011. PMID: 21749722 Free PMC article.

9

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

Ranieri M, Del Bo R, Bordoni A, Ronchi D, Colombo I, Riboldi G, Cosi A, Servida M, Magri F, Moggio M, Bresolin N, Comi GP, Corti S. Ranieri M, et al. Among authors: ronchi d. J Neurol Sci. 2012 Apr 15;315(1-2):146-9. doi: 10.1016/j.jns.2011.12.002. Epub 2011 Dec 22. J Neurol Sci. 2012. PMID: 22197506 Free PMC article.

10

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M. Ronchi D, et al. Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4. Brain. 2012. PMID: 23043144 Free PMC article.

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