Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 32

1.

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.

Levene M, Bain MD, Moran NF, Nirmalananthan N, Poulton J, Scarpelli M, Filosto M, Mandel H, MacKinnon AD, Fairbanks L, Pacitti D, Bax BE.

J Clin Med. 2019 Apr 5;8(4). pii: E457. doi: 10.3390/jcm8040457.

2.

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1).

Filosto M, Cotti Piccinelli S, Caria F, Gallo Cassarino S, Baldelli E, Galvagni A, Volonghi I, Scarpelli M, Padovani A.

J Clin Med. 2018 Oct 26;7(11). pii: E389. doi: 10.3390/jcm7110389. Review.

3.

Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants - Response.

Scarpelli M, Carreño-Gago L, Russignan A, de Luna N, Carnicer-Cáceres C, Ariatti LA, Verriello GD, Tonin P, Garcia-Arumi E, Pinós T.

Neuromuscul Disord. 2018 Apr;28(4):374-375. doi: 10.1016/j.nmd.2018.01.011. Epub 2018 Jan 31. No abstract available.

PMID:
29482911
4.

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.

Scarpelli M, Carreño-Gago L, Russignan A, de Luna N, Carnicer-Cáceres C, Ariatti A, Verriello L, Devigili G, Tonin P, Garcia-Arumi E, Pinós T.

Neuromuscul Disord. 2018 Feb;28(2):137-143. doi: 10.1016/j.nmd.2017.10.006. Epub 2017 Oct 31.

PMID:
29174468
5.

Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy.

Gaudino R, Piona C, Morandi G, Maines E, Banzato C, Tonin P, Scarpelli M, Cavarzere P, Antoniazzi F.

Minerva Pediatr. 2017 Oct;69(5):460-462. doi: 10.23736/S0026-4946.16.04500-X. No abstract available.

PMID:
28745468
6.

Mitochondrial diseases: advances and issues.

Scarpelli M, Todeschini A, Volonghi I, Padovani A, Filosto M.

Appl Clin Genet. 2017 Feb 15;10:21-26. doi: 10.2147/TACG.S94267. eCollection 2017. Review.

7.

Aortic and Mitral Valve Involvement in Maroteaux-Lamy Syndrome VI: Surgical Implications in the Enzyme Replacement Therapy Era.

Torre S, Scarpelli M, Salviati A, Buffone E, Faggian G, Luciani GB.

Ann Thorac Surg. 2016 Jul;102(1):e23-5. doi: 10.1016/j.athoracsur.2015.11.062.

PMID:
27343522
8.

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco EC, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2015 Dec;262(12):2800. doi: 10.1007/s00415-015-7943-9. No abstract available.

PMID:
26566910
9.

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.

Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, Caretta N, Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello L, Semplicini C, Pareyson D, Silani V, Ermani M, Ferlin A, Sorarù G; Italian Study Group on Kennedy's disease.

J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):810-6. doi: 10.1136/jnnp-2015-311305. Epub 2015 Oct 26.

10.

Redefining phenotypes associated with mitochondrial DNA single deletion.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Caldarazzo Ienco E, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2015 May;262(5):1301-9. doi: 10.1007/s00415-015-7710-y. Epub 2015 Mar 26. Erratum in: J Neurol. 2015 Dec;262(12):2800.

PMID:
25808502
11.

Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease.

Bertoldo F, Zappini F, Brigo M, Moggio M, Lucchini V, Angelini C, Semplicini C, Filosto M, Ravaglia S, Cotelli S, Todeschini A, Scarpelli M, Pancheri S, Tonin P.

J Neuromuscul Dis. 2015;2(s1):S13. No abstract available.

PMID:
27858611
12.

Strategies for treating mitochondrial disorders: an update.

Scarpelli M, Todeschini A, Rinaldi F, Rota S, Padovani A, Filosto M.

Mol Genet Metab. 2014 Dec;113(4):253-60. doi: 10.1016/j.ymgme.2014.09.013. Epub 2014 Oct 8. Review.

PMID:
25458518
13.

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease.

Bertoldo F, Zappini F, Brigo M, Moggio M, Lucchini V, Angelini C, Semplicini C, Filosto M, Ravaglia S, Cotelli S, Todeschini A, Scarpelli M, Pancheri S, Tonin P.

J Clin Endocrinol Metab. 2015 Feb;100(2):401-6. doi: 10.1210/jc.2014-2763. Epub 2014 Nov 14.

PMID:
25396301
14.

Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up.

Scarpelli M, Tomelleri G, Bertolasi L, Salviati A.

Mol Genet Metab Rep. 2014 Jul 2;1:269-272. eCollection 2014.

15.

Myoclonus in mitochondrial disorders.

Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G.

Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7.

PMID:
24510442
16.

Non-muscle involvement in late-onset glycogenosis II.

Filosto M, Todeschini A, Cotelli MS, Vielmi V, Rinaldi F, Rota S, Scarpelli M, Padovani A.

Acta Myol. 2013 Oct;32(2):91-4. Review.

17.

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco EC, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

J Neurol. 2014 Mar;261(3):504-10. doi: 10.1007/s00415-013-7225-3. Epub 2013 Dec 29.

PMID:
24375076
18.

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

Cámara Y, González-Vioque E, Scarpelli M, Torres-Torronteras J, Caballero A, Hirano M, Martí R.

Hum Mol Genet. 2014 May 1;23(9):2459-67. doi: 10.1093/hmg/ddt641. Epub 2013 Dec 20.

19.

The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.

Scarpelli M, Ricciardi GK, Beltramello A, Zocca I, Calabria F, Russignan A, Zappini F, Cotelli MS, Padovani A, Tomelleri G, Filosto M, Tonin P.

Neuroradiol J. 2013 Oct;26(5):520-30. Epub 2013 Nov 7.

20.

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.

Bax BE, Bain MD, Scarpelli M, Filosto M, Tonin P, Moran N.

Neurology. 2013 Oct 1;81(14):1269-71. doi: 10.1212/WNL.0b013e3182a6cb4b. Epub 2013 Aug 21. No abstract available.

Supplemental Content

Loading ...
Support Center