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Items: 1 to 20 of 640

1.

Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.

Sadat R, Barca E, Masand R, Donti TR, Naini A, De Vivo DC, DiMauro S, Hanchard NA, Graham BH.

Mol Genet Metab. 2016 May;118(1):28-34. doi: 10.1016/j.ymgme.2016.03.004. Epub 2016 Mar 8.

PMID:
26992325
2.

Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.

Engelstad K, Sklerov M, Kriger J, Sanford A, Grier J, Ash D, Egli D, DiMauro S, Thompson JL, Sauer MV, Hirano M.

Hum Reprod. 2016 May;31(5):1058-65. doi: 10.1093/humrep/dew033. Epub 2016 Mar 2.

PMID:
26936885
3.

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.

Barca E, Musumeci O, Montagnese F, Marino S, Granata F, Nunnari D, Peverelli L, DiMauro S, Quinzii CM, Toscano A.

Clin Genet. 2016 Jan 27. doi: 10.1111/cge.12742. [Epub ahead of print]

PMID:
26818466
4.

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.

Akman HO, Aykit Y, Amuk OC, Malfatti E, Romero NB, Maioli MA, Piras R, DiMauro S, Marrosu G.

Neuromuscul Disord. 2016 Jan;26(1):16-20. doi: 10.1016/j.nmd.2015.10.012. Epub 2015 Nov 10.

PMID:
26652229
5.

CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

Barca E, Tang M, Kleiner G, Engelstad K, DiMauro S, Quinzii CM, De Vivo DC.

JIMD Rep. 2015 Nov 29. [Epub ahead of print]

PMID:
26615598
6.

A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Orhan Akman H, Emmanuele V, Kurt YG, Kurt B, Sheiko T, DiMauro S, Craigen WJ.

Hum Mol Genet. 2015 Dec 1;24(23):6801-10. doi: 10.1093/hmg/ddv385. Epub 2015 Sep 18.

PMID:
26385640
7.

Metabolic Myoglobinuria.

Barca E, Emmanuele V, DiMauro SB.

Curr Neurol Neurosci Rep. 2015 Oct;15(10):69. doi: 10.1007/s11910-015-0590-9. Review.

PMID:
26319173
8.

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.

PMID:
25844556
9.

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.

Akman HO, Kakhlon O, Coku J, Peverelli L, Rosenmann H, Rozenstein-Tsalkovich L, Turnbull J, Meiner V, Chama L, Lerer I, Shpitzen S, Leitersdorf E, Paradas C, Wallace M, Schiffmann R, DiMauro S, Lossos A, Minassian BA.

JAMA Neurol. 2015 Apr;72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. Erratum in: JAMA Neurol. 2015 Apr;72(4):481.

PMID:
25665141
10.

Impact commentaries. Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome).

Leigh PN, Al-Sarraj S, DiMauro S.

J Neurol Neurosurg Psychiatry. 2015 Apr;86(4):363-5. doi: 10.1136/jnnp-2012-304601. Epub 2015 Jan 13. No abstract available.

11.

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S.

Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Epub 2014 Dec 11. Review.

PMID:
25503498
12.

A myopathy with unusual features caused by PNPLA2 gene mutations.

Pennisi EM, Missaglia S, Dimauro S, Bernardi C, Akman HO, Tavian D.

Muscle Nerve. 2015 Apr;51(4):609-13. doi: 10.1002/mus.24477. Epub 2015 Feb 28.

PMID:
25287355
13.

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A.

Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31.

14.

TMEM14C is required for erythroid mitochondrial heme metabolism.

Yien YY, Robledo RF, Schultz IJ, Takahashi-Makise N, Gwynn B, Bauer DE, Dass A, Yi G, Li L, Hildick-Smith GJ, Cooney JD, Pierce EL, Mohler K, Dailey TA, Miyata N, Kingsley PD, Garone C, Hattangadi SM, Huang H, Chen W, Keenan EM, Shah DI, Schlaeger TM, DiMauro S, Orkin SH, Cantor AB, Palis J, Koehler CM, Lodish HF, Kaplan J, Ward DM, Dailey HA, Phillips JD, Peters LL, Paw BH.

J Clin Invest. 2014 Oct;124(10):4294-304. doi: 10.1172/JCI76979. Epub 2014 Aug 26.

15.

Mutant COQ2 in multiple-system atrophy.

Quinzii CM, Hirano M, DiMauro S.

N Engl J Med. 2014 Jul 3;371(1):81-2. doi: 10.1056/NEJMc1311763#SA4. No abstract available.

PMID:
24988570
16.

A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.

Pallotti F, Binelli G, Fabbri R, Valentino ML, Vicenti R, Macciocca M, Cevoli S, Baruzzi A, DiMauro S, Carelli V.

PLoS One. 2014 May 7;9(5):e96663. doi: 10.1371/journal.pone.0096663. eCollection 2014. Erratum in: PLoS One. 2014;9(12):e115961.

17.

Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration.

Bit-Ivan EN, Lee KH, Gitelman D, Weintraub S, Mesulam M, Rademakers R, Isaacs AM, Hatanpaa KJ, White CL 3rd, Mao Q, Akman O, DiMauro S, Bigio EH.

Neuropathol Appl Neurobiol. 2014 Oct;40(6):778-82. doi: 10.1111/nan.12144. No abstract available.

18.

Author response.

DiMauro S.

Neurology. 2014 Feb 18;82(7):644. No abstract available.

PMID:
24745040
19.

Mitochondrial dysfunction as a neurobiological subtype of autism spectrum disorder: evidence from brain imaging.

Goh S, Dong Z, Zhang Y, DiMauro S, Peterson BS.

JAMA Psychiatry. 2014 Jun;71(6):665-71. doi: 10.1001/jamapsychiatry.2014.179. Erratum in: JAMA Psychiatry. 2014 Jul;71(7):840.

20.

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.

Peverelli L, Gold CA, Naini AB, Tanji K, Akman HO, Hirano M, Dimauro S.

Muscle Nerve. 2014 Aug;50(2):292-5. doi: 10.1002/mus.24262.

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