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Items: 22

1.

Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice.

Sottnik JL, Mallaredy V, Chauca-Diaz A, Ritterson Lew C, Owens C, Dancik GM, Pagliarani S, Lucchiari S, Moggio M, Ripolone M, Comi GP, Frierson HF, Clouthier D, Theodorescu D.

Carcinogenesis. 2019 Mar 12;40(1):194-201. doi: 10.1093/carcin/bgy139.

PMID:
30403777
2.

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.

Ripolone M, Lucchini V, Ronchi D, Fagiolari G, Bordoni A, Fortunato F, Mondello S, Bonato S, Meregalli M, Torrente Y, Corti S, Comi GP, Moggio M, Sciacco M.

J Neurosci Res. 2018 Sep;96(9):1576-1585. doi: 10.1002/jnr.24263.

3.

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.

Pagliarani S, Lucchiari S, Ulzi G, Ripolone M, Violano R, Fortunato F, Bordoni A, Corti S, Moggio M, Bresolin N, Comi GP.

Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3407-3417. doi: 10.1016/j.bbadis.2018.07.031. Epub 2018 Aug 1.

4.

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

Cortese A, Laurà M, Casali C, Nishino I, Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, Moggio M, Ripolone M, Prelle A, Pisciotta C, Sagnelli A, Pichiecchio A, Reilly MM, Buratti E, Pareyson D.

Eur J Neurol. 2018 Jan;25(1):154-163. doi: 10.1111/ene.13478. Epub 2017 Dec 2.

PMID:
29029362
5.

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Ripolone M, Violano R, Ronchi D, Mondello S, Nascimbeni A, Colombo I, Fagiolari G, Bordoni A, Fortunato F, Lucchini V, Saredi S, Filosto M, Musumeci O, Tonin P, Mongini T, Previtali S, Morandi L, Angelini C, Mora M, Sandri M, Sciacco M, Toscano A, Comi GP, Moggio M.

Neuropathol Appl Neurobiol. 2017 Jun 2. doi: 10.1111/nan.12414. [Epub ahead of print]

6.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

Böhm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N, Laporte J.

Hum Mutat. 2017 Apr;38(4):426-438. doi: 10.1002/humu.23172. Epub 2017 Feb 2.

PMID:
28058752
7.

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation.

Pambianco S, Giovarelli M, Perrotta C, Zecchini S, Cervia D, Di Renzo I, Moscheni C, Ripolone M, Violano R, Moggio M, Bassi MT, Puri PL, Latella L, Clementi E, De Palma C.

Cell Rep. 2016 Dec 13;17(11):3010-3023. doi: 10.1016/j.celrep.2016.11.044.

8.

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium.

Neurobiol Aging. 2016 Nov;47:218.e1-218.e9. doi: 10.1016/j.neurobiolaging.2016.07.024. Epub 2016 Aug 8.

9.

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

Ripolone M, Ronchi D, Violano R, Vallejo D, Fagiolari G, Barca E, Lucchini V, Colombo I, Villa L, Berardinelli A, Balottin U, Morandi L, Mora M, Bordoni A, Fortunato F, Corti S, Parisi D, Toscano A, Sciacco M, DiMauro S, Comi GP, Moggio M.

JAMA Neurol. 2015 Jun;72(6):666-75. doi: 10.1001/jamaneurol.2015.0178. Erratum in: JAMA Neurol. 2015 Oct;72(10):1210.

10.

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium(#).

Neurobiol Aging. 2015 Apr;36(4):1766.e1-1766.e3. doi: 10.1016/j.neurobiolaging.2014.12.039. Epub 2015 Jan 14.

11.

Autophagy as a new therapeutic target in Duchenne muscular dystrophy.

De Palma C, Morisi F, Cheli S, Pambianco S, Cappello V, Vezzoli M, Rovere-Querini P, Moggio M, Ripolone M, Francolini M, Sandri M, Clementi E.

Cell Death Dis. 2014 Aug 7;5:e1363. doi: 10.1038/cddis.2014.312. No abstract available.

12.

Glycogen storage disease type III: A novel Agl knockout mouse model.

Pagliarani S, Lucchiari S, Ulzi G, Violano R, Ripolone M, Bordoni A, Nizzardo M, Gatti S, Corti S, Moggio M, Bresolin N, Comi GP.

Biochim Biophys Acta. 2014 Nov;1842(11):2318-28. doi: 10.1016/j.bbadis.2014.07.029. Epub 2014 Aug 1.

13.

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M.

Neurology. 2014 Jun 10;82(23):2072-6. doi: 10.1212/WNL.0000000000000490. Epub 2014 May 14.

14.

Autophagy as a new therapeutic target in Duchenne muscular dystrophy.

De Palma C, Morisi F, Cheli S, Pambianco S, Cappello V, Vezzoli M, Rovere-Querini P, Moggio M, Ripolone M, Francolini M, Sandri M, Clementi E.

Cell Death Dis. 2012 Nov 15;3:e418. doi: 10.1038/cddis.2012.159.

15.

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.

16.

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.

17.

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.

18.

USP8, a regulator of endosomal sorting, is involved in mouse acrosome biogenesis through interaction with the spermatid ESCRT-0 complex and microtubules.

Berruti G, Ripolone M, Ceriani M.

Biol Reprod. 2010 May;82(5):930-9. doi: 10.1095/biolreprod.109.081679. Epub 2010 Feb 3.

PMID:
20130268
19.

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

Lamperti C, Salani S, Lucchiari S, Bordoni A, Ripolone M, Fagiolari G, Fruguglietti ME, Crugnola V, Colombo C, Cappellini A, Prelle A, Bresolin N, Comi GP, Moggio M.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S161-8. doi: 10.1007/s10545-009-1134-8. Epub 2009 Apr 8.

PMID:
19357989
20.

Severe acute multineuropathy in Churg-Strauss syndrome in a patient with a history of melanoma.

Fruguglietti ME, Napoli L, Sciacco M, Ripolone M, Serafini M, Grimoldi N, Bresolin N, Moggio M, Prelle A.

Clin Neuropathol. 2009 Mar-Apr;28(2):125-8.

21.

cAMP-Epac2-mediated activation of Rap1 in developing male germ cells: RA-RhoGAP as a possible direct down-stream effector.

Aivatiadou E, Ripolone M, Brunetti F, Berruti G.

Mol Reprod Dev. 2009 Apr;76(4):407-16. doi: 10.1002/mrd.20963.

PMID:
18937323
22.

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

Laurà M, Milani M, Morbin M, Moggio M, Ripolone M, Jann S, Scaioli V, Taroni F, Pareyson D.

J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1263-6.

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