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Items: 1 to 50 of 98

1.

New missense variants of NDUFA11 associated with late-onset myopathy.

Peverelli L, Legati A, Lamantea E, Nasca A, Lerario A, Galimberti V, Ghezzi D, Lamperti C.

Muscle Nerve. 2019 Aug;60(2):E11-E14. doi: 10.1002/mus.26511. Epub 2019 May 30. No abstract available.

PMID:
31074871
2.

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

Marchet S, Invernizzi F, Blasevich F, Bruno V, Dusi S, Venco P, Fiorillo C, Baranello G, Pallotti F, Lamantea E, Mora M, Tiranti V, Lamperti C.

Mitochondrion. 2019 Jul;47:24-29. doi: 10.1016/j.mito.2019.04.002. Epub 2019 Apr 12.

PMID:
30986505
3.

DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).

Catania A, Peverelli L, Tabano S, Ghezzi D, Lamperti C.

Neurol Sci. 2019 Sep;40(9):1963-1966. doi: 10.1007/s10072-019-03859-7. Epub 2019 Mar 25. No abstract available.

PMID:
30911858
4.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.

Musumeci O, Barca E, Lamperti C, Servidei S, Comi GP, Moggio M, Mongini T, Siciliano G, Filosto M, Pegoraro E, Primiano G, Ronchi D, Vercelli L, Orsucci D, Bello L, Zeviani M, Mancuso M, Toscano A.

Front Neurol. 2019 Feb 27;10:160. doi: 10.3389/fneur.2019.00160. eCollection 2019.

5.

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.

Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E.

Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9.

PMID:
30801875
6.

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.

Catania A, Legati A, Peverelli L, Nanetti L, Marchet S, Zanetti N, Lamperti C, Ghezzi D.

Am J Med Genet A. 2019 May;179(5):827-831. doi: 10.1002/ajmg.a.61092. Epub 2019 Feb 17.

PMID:
30773800
7.

Muscle pain in mitochondrial diseases: a picture from the Italian network.

Filosto M, Cotti Piccinelli S, Lamperti C, Mongini T, Servidei S, Musumeci O, Tonin P, Santorelli FM, Simoncini C, Primiano G, Vercelli L, Rubegni A, Galvagni A, Moggio M, Comi GP, Carelli V, Toscano A, Padovani A, Siciliano G, Mancuso M.

J Neurol. 2019 Apr;266(4):953-959. doi: 10.1007/s00415-019-09219-x. Epub 2019 Feb 2.

PMID:
30710167
8.

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis.

Civiletto G, Dogan SA, Cerutti R, Fagiolari G, Moggio M, Lamperti C, Benincá C, Viscomi C, Zeviani M.

EMBO Mol Med. 2018 Nov;10(11). pii: e8799. doi: 10.15252/emmm.201708799.

9.

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.

Legati A, Reyes A, Ceccatelli Berti C, Stehling O, Marchet S, Lamperti C, Ferrari A, Robinson AJ, Mühlenhoff U, Lill R, Zeviani M, Goffrini P, Ghezzi D.

J Med Genet. 2017 Dec;54(12):815-824. doi: 10.1136/jmedgenet-2017-104822. Epub 2017 Oct 27.

10.

Ethylmalonic Encephalopathy.

Di Meo I, Lamperti C, Tiranti V.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Sep 21.

11.

Retinal dysfunction characterizes subtypes of dominant optic atrophy.

Cascavilla ML, Parisi V, Triolo G, Ziccardi L, Borrelli E, Di Renzo A, Balducci N, Lamperti C, Bianchi Marzoli S, Darvizeh F, Sadun AA, Carelli V, Bandello F, Barboni P.

Acta Ophthalmol. 2018 Mar;96(2):e156-e163. doi: 10.1111/aos.13557. Epub 2017 Sep 19.

12.

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy.

Fonderico M, Laudisi M, Andreasi NG, Bigoni S, Lamperti C, Panteghini C, Garavaglia B, Carecchio M, Emanuele EA, Forni GL, Granieri E.

Front Neurol. 2017 Aug 21;8:385. doi: 10.3389/fneur.2017.00385. eCollection 2017.

13.

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.

Di Meo I, Marchet S, Lamperti C, Zeviani M, Viscomi C.

Gene Ther. 2017 Oct;24(10):661-667. doi: 10.1038/gt.2017.53. Epub 2017 Jul 27.

14.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Ardissone A, Bello L, Bruno C, Ienco EC, Diodato D, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Primiano G, Ronchi D, Rubegni A, Salvatore S, Sciacco M, Valentino ML, Vercelli L, Toscano A, Zeviani M, Siciliano G, Mancuso M.

J Neurol. 2017 Aug;264(8):1777-1784. doi: 10.1007/s00415-017-8567-z. Epub 2017 Jul 10.

PMID:
28695364
15.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D.

Orphanet J Rare Dis. 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1.

16.

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

Mancuso M, Orsucci D, Angelini C, Bertini E, Bruno C, Carelli V, Comi GP, Filosto M, Lamperti C, Moggio M, Mongini T, Moroni I, Tonin P, Toscano A, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases.

Neuromuscul Disord. 2017 Apr;27(4):e1. doi: 10.1016/j.nmd.2017.01.003. Epub 2017 Feb 8. No abstract available.

PMID:
28189480
17.

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

Zanolini A, Potic A, Carrara F, Lamantea E, Diodato D, Blasevich F, Marchet S, Mora M, Pallotti F, Morandi L, Zeviani M, Lamperti C.

Mol Genet Metab Rep. 2016 Dec 15;10:24-27. doi: 10.1016/j.ymgmr.2016.11.009. eCollection 2017 Mar.

18.

Transcription Factor EB Controls Metabolic Flexibility during Exercise.

Mansueto G, Armani A, Viscomi C, D'Orsi L, De Cegli R, Polishchuk EV, Lamperti C, Di Meo I, Romanello V, Marchet S, Saha PK, Zong H, Blaauw B, Solagna F, Tezze C, Grumati P, Bonaldo P, Pessin JE, Zeviani M, Sandri M, Ballabio A.

Cell Metab. 2017 Jan 10;25(1):182-196. doi: 10.1016/j.cmet.2016.11.003. Epub 2016 Dec 20.

19.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J.

Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.

20.

Mitochondrial m.3243A > G mutation and carotid artery dissection.

Mancuso M, Montano V, Orsucci D, Peverelli L, Caputi L, Gambaro P, Siciliano G, Lamperti C.

Mol Genet Metab Rep. 2016 Sep 1;9:12-4. doi: 10.1016/j.ymgmr.2016.08.010. eCollection 2016 Dec.

21.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR.

Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15.

22.

Myoclonus epilepsy in mitochondrial disorders.

Lamperti C, Zeviani M.

Epileptic Disord. 2016 Sep 1;18(S2):94-102. Review.

PMID:
27618766
23.

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Tonin P, Toscano A, Bruno C, Ienco EC, Filosto M, Lamperti C, Diodato D, Moroni I, Musumeci O, Pegoraro E, Spinazzi M, Ahmed N, Sciacco M, Vercelli L, Ardissone A, Zeviani M, Siciliano G.

Neuromuscul Disord. 2016 Apr-May;26(4-5):272-6. doi: 10.1016/j.nmd.2016.02.008. Epub 2016 Feb 23.

24.

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

Legati A, Reyes A, Nasca A, Invernizzi F, Lamantea E, Tiranti V, Garavaglia B, Lamperti C, Ardissone A, Moroni I, Robinson A, Ghezzi D, Zeviani M.

Biochim Biophys Acta. 2016 Aug;1857(8):1326-1335. doi: 10.1016/j.bbabio.2016.02.022. Epub 2016 Mar 8.

25.

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SC, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJ, Horvath R, Chinnery PF.

Hum Mol Genet. 2016 Mar 1;25(5):1031-41. doi: 10.1093/hmg/ddv626. Epub 2016 Jan 5.

26.

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
27.

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients.

Lamperti C, Invernizzi F, Solazzi R, Freri E, Carella F, Zeviani M, Zibordi F, Fusco C, Zorzi G, Granata T, Garavaglia B, Nardocci N.

Eur J Paediatr Neurol. 2016 Jan;20(1):152-7. doi: 10.1016/j.ejpn.2015.08.006. Epub 2015 Sep 3.

PMID:
26384010
28.

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.

Di Meo I, Lamperti C, Tiranti V.

EMBO Mol Med. 2015 Oct;7(10):1257-66. doi: 10.15252/emmm.201505040. Review.

29.

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.

Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M.

Am J Hum Genet. 2015 Jul 2;97(1):186-93. doi: 10.1016/j.ajhg.2015.05.013. Epub 2015 Jun 18.

30.

Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models.

Civiletto G, Varanita T, Cerutti R, Gorletta T, Barbaro S, Marchet S, Lamperti C, Viscomi C, Scorrano L, Zeviani M.

Cell Metab. 2015 Jun 2;21(6):845-54. doi: 10.1016/j.cmet.2015.04.016.

31.

A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.

Bee L, Nasca A, Zanolini A, Cendron F, d'Adamo P, Costa R, Lamperti C, Celotti L, Ghezzi D, Zeviani M.

EMBO Mol Med. 2015 Jul;7(7):918-29. doi: 10.15252/emmm.201404803.

32.

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
33.

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.

Rocca MA, Bianchi-Marzoli S, Messina R, Cascavilla ML, Zeviani M, Lamperti C, Milesi J, Carta A, Cammarata G, Leocani L, Lamantea E, Bandello F, Comi G, Falini A, Filippi M.

J Neurol. 2015 May;262(5):1216-27. doi: 10.1007/s00415-015-7696-5. Epub 2015 Mar 21.

PMID:
25794858
34.

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D.

Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023.

35.

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M.

Am J Hum Genet. 2014 Sep 4;95(3):315-25. doi: 10.1016/j.ajhg.2014.08.003. Epub 2014 Aug 28.

36.

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D.

Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24.

37.

NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease.

Cerutti R, Pirinen E, Lamperti C, Marchet S, Sauve AA, Li W, Leoni V, Schon EA, Dantzer F, Auwerx J, Viscomi C, Zeviani M.

Cell Metab. 2014 Jun 3;19(6):1042-9. doi: 10.1016/j.cmet.2014.04.001. Epub 2014 May 8.

38.

Novel (ovario) leukodystrophy related to AARS2 mutations.

Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS.

Neurology. 2014 Jun 10;82(23):2063-71. doi: 10.1212/WNL.0000000000000497. Epub 2014 May 7.

39.

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.

Diodato D, Invernizzi F, Lamantea E, Fagiolari G, Parini R, Menni F, Parenti G, Bollani L, Pasquini E, Donati MA, Cassandrini D, Santorelli FM, Haack TB, Prokisch H, Ghezzi D, Lamperti C, Zeviani M.

JIMD Rep. 2015;15:71-8. doi: 10.1007/8904_2014_300. Epub 2014 Apr 17.

40.

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
41.

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
42.

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.

Brunetti D, Dusi S, Giordano C, Lamperti C, Morbin M, Fugnanesi V, Marchet S, Fagiolari G, Sibon O, Moggio M, d'Amati G, Tiranti V.

Brain. 2014 Jan;137(Pt 1):57-68. doi: 10.1093/brain/awt325. Epub 2013 Dec 6.

43.

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.

Bottani E, Giordano C, Civiletto G, Di Meo I, Auricchio A, Ciusani E, Marchet S, Lamperti C, d'Amati G, Viscomi C, Zeviani M.

Mol Ther. 2014 Jan;22(1):10-7. doi: 10.1038/mt.2013.230. Epub 2013 Jul 3.

44.

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.

Remiche G, Ronchi D, Magri F, Lamperti C, Bordoni A, Moggio M, Bresolin N, Comi GP.

J Neurol. 2014 Jan;261(1):83-97. doi: 10.1007/s00415-013-7137-2. Epub 2013 Oct 25. Review.

PMID:
24158270
45.

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C, Zeviani M.

Hum Mutat. 2013 Dec;34(12):1619-22. doi: 10.1002/humu.22441. Epub 2013 Sep 23.

46.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M.

Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29.

47.

Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association?

Remiche G, Ronchi D, Lamperti C, Bordoni A, Magri F, Moggio M, Comi GP.

Eur Neurol. 2013;70(1-2):102-5. doi: 10.1159/000350851. Epub 2013 Jul 9. No abstract available.

48.

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.

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

Neurology. 2013 May 28;80(22):2049-54. doi: 10.1212/WNL.0b013e318294b44c. Epub 2013 May 1.

PMID:
23635963
49.

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

Salsano E, Farina L, Lamperti C, Piscosquito G, Salerno F, Morandi L, Carrara F, Lamantea E, Zeviani M, Uziel G, Savoiardo M, Pareyson D.

J Neurol. 2013 Jun;260(6):1617-23. doi: 10.1007/s00415-013-6844-z. Epub 2013 Jan 29. Review.

PMID:
23358625
50.

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH.

Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008.

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