Format
Items per page
Sort by

Send to:

Choose Destination

Results: 15

1.

Mitochondrial disease heterogeneity: a prognostic challenge.

Moggio M, Colombo I, Peverelli L, Villa L, Xhani R, Testolin S, Di Mauro S, Sciacco M.

Acta Myol. 2014 Oct;33(2):86-93.

2.

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.

Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS, Minczuk M.

Hum Mol Genet. 2014 Dec 1;23(23):6147-62. doi: 10.1093/hmg/ddu336. Epub 2014 Jun 30.

3.

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.

Kalko SG, Paco S, Jou C, Rodríguez MA, Meznaric M, Rogac M, Jekovec-Vrhovsek M, Sciacco M, Moggio M, Fagiolari G, De Paepe B, De Meirleir L, Ferrer I, Roig-Quilis M, Munell F, Montoya J, López-Gallardo E, Ruiz-Pesini E, Artuch R, Montero R, Torner F, Nascimento A, Ortez C, Colomer J, Jimenez-Mallebrera C.

BMC Genomics. 2014 Feb 1;15:91. doi: 10.1186/1471-2164-15-91.

4.

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.

Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Zheng L, Filosto M, Ferrò MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP.

Am J Hum Genet. 2013 Feb 7;92(2):293-300. doi: 10.1016/j.ajhg.2012.12.014. Epub 2013 Jan 24.

5.

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.

Cheldi A, Ronchi D, Bordoni A, Bordo B, Lanfranconi S, Bellotti MG, Corti S, Lucchini V, Sciacco M, Moggio M, Baron P, Comi GP, Colombo A, Bersano A; Lombardia GENS collaborators.

BMC Neurol. 2013 Jan 15;13:8. doi: 10.1186/1471-2377-13-8.

6.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H.

Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13.

7.

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.

Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4.

8.

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.

Magri F, Del Bo R, D'Angelo MG, Sciacco M, Gandossini S, Govoni A, Napoli L, Ciscato P, Fortunato F, Brighina E, Bonato S, Bordoni A, Lucchini V, Corti S, Moggio M, Bresolin N, Comi GP.

Neuromuscul Disord. 2012 Nov;22(11):934-43. doi: 10.1016/j.nmd.2012.05.001. Epub 2012 Jun 27.

9.

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.

Ronchi D, Sciacco M, Bordoni A, Raimondi M, Ripolone M, Fassone E, Di Fonzo A, Rizzuti M, Ciscato P, Cosi A, Servida M, Moggio M, Corti S, Bresolin N, Comi GP.

Eur J Hum Genet. 2012 Mar;20(3):357-60. doi: 10.1038/ejhg.2011.238. Epub 2011 Dec 21.

10.

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.

BMC Neurol. 2011 Jul 12;11:85. doi: 10.1186/1471-2377-11-85.

11.

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

Ronchi D, Fassone E, Bordoni A, Sciacco M, Lucchini V, Di Fonzo A, Rizzuti M, Colombo I, Napoli L, Ciscato P, Moggio M, Cosi A, Collotta M, Corti S, Bresolin N, Comi GP.

J Neurol Sci. 2011 Sep 15;308(1-2):173-6. doi: 10.1016/j.jns.2011.05.042.

12.

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation.

Riboldi G, Del Bo R, Ranieri M, Magri F, Sciacco M, Moggio M, Bresolin N, Corti S, Comi GP.

Case Rep Neurol. 2011 Feb 23;3(1):62-8. doi: 10.1159/000324925.

13.

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Magri F, Del Bo R, D'Angelo MG, Govoni A, Ghezzi S, Gandossini S, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Cereda M, Corti S, Moggio M, Bresolin N, Comi GP.

BMC Med Genet. 2011 Mar 11;12:37. doi: 10.1186/1471-2350-12-37.

14.

IgD Multiple Myeloma Paraproteinemia as a Cause of Myositis.

Colombo I, Fruguglietti ME, Napoli L, Sciacco M, Tagliaferri E, Della Volpe A, Crugnola V, Bresolin N, Moggio M, Prelle A.

Neurol Res Int. 2010;2010:808474. doi: 10.1155/2010/808474. Epub 2010 Jul 19.

15.

Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease.

Ciammola A, Sassone J, Sciacco M, Mencacci NE, Ripolone M, Bizzi C, Colciago C, Moggio M, Parati G, Silani V, Malfatto G.

Mov Disord. 2011 Jan;26(1):130-7. doi: 10.1002/mds.23258. Epub 2010 Oct 7.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk