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Results: 1 to 20 of 83

1.

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.

Garone C, Garcia-Diaz B, Emmanuele V, Lopez LC, Tadesse S, Akman HO, Tanji K, Quinzii CM, Hirano M.

EMBO Mol Med. 2014 Jun 26. pii: e201404092. doi: 10.15252/emmm.201404092. [Epub ahead of print]

PMID:
24968719
[PubMed - as supplied by publisher]
Free Article
2.

Isolated hepatic tuberculosis: a rare cause of hepatic mass lesions.

Türkel Küçükmetin N, Ince U, Ciçek B, Akman H, Boztaş G, Tözün N.

Turk J Gastroenterol. 2014 Feb;25(1):110-2. doi: 10.5152/tjg.2014.6349.

PMID:
24918144
[PubMed - in process]
Free Article
3.

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.

PMID:
24711008
[PubMed - in process]
4.

Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature.

Levy RJ, Ríos PG, Akman HO, Sciacco M, Vivo DC, Dimauro S.

J Child Neurol. 2013 Nov 27. [Epub ahead of print]

PMID:
24284231
[PubMed - as supplied by publisher]
5.

Branching enzyme deficiency: expanding the clinical spectrum.

Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S.

JAMA Neurol. 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888.

PMID:
24248152
[PubMed - indexed for MEDLINE]
6.

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH.

Am J Hum Genet. 2013 Nov 7;93(5):906-14. doi: 10.1016/j.ajhg.2013.09.011. Epub 2013 Oct 10.

PMID:
24119684
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A.

Ann Neurol. 2013 Dec;74(6):914-9. doi: 10.1002/ana.23963.

PMID:
23798481
[PubMed - indexed for MEDLINE]
8.

Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.

Kakhlon O, Glickstein H, Feinstein N, Liu Y, Baba O, Terashima T, Akman HO, Dimauro S, Lossos A.

J Neurochem. 2013 Oct;127(1):101-13. doi: 10.1111/jnc.12277. Epub 2013 May 9.

PMID:
23607684
[PubMed - indexed for MEDLINE]
9.

Mitochondrial abnormalities in temporal lobe of autistic brain.

Tang G, Gutierrez Rios P, Kuo SH, Akman HO, Rosoklija G, Tanji K, Dwork A, Schon EA, Dimauro S, Goldman J, Sulzer D.

Neurobiol Dis. 2013 Jun;54:349-61. doi: 10.1016/j.nbd.2013.01.006. Epub 2013 Jan 17.

PMID:
23333625
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Acute but transient neurological deterioration revealing adult polyglucosan body disease.

Billot S, Hervé D, Akman HO, Froissart R, Baussan C, Claeys KG, Piraud M, Sedel F, Mochel F, Laforêt P.

J Neurol Sci. 2013 Jan 15;324(1-2):179-82. doi: 10.1016/j.jns.2012.10.015. Epub 2012 Nov 10.

PMID:
23146612
[PubMed - indexed for MEDLINE]
11.

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A.

Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598.

PMID:
23034915
[PubMed - indexed for MEDLINE]
12.

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM.

Am J Hum Genet. 2012 Oct 5;91(4):729-36. doi: 10.1016/j.ajhg.2012.08.019. Epub 2012 Sep 27.

PMID:
23022099
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.

Gutiérrez Ríos P, Kalra AA, Wilson JD, Tanji K, Akman HO, Area Gómez E, Schon EA, DiMauro S.

Arch Neurol. 2012 May;69(5):657-61. doi: 10.1001/archneurol.2011.2333.

PMID:
22782513
[PubMed - indexed for MEDLINE]
14.

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.

Emmanuele V, Sotiriou E, Rios PG, Ganesh J, Ichord R, Foley AR, Akman HO, Dimauro S.

J Child Neurol. 2013 Feb;28(2):236-42. doi: 10.1177/0883073812445787. Epub 2012 May 25.

PMID:
22638077
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.

Shanske S, Naini A, Chmait RH, Akman HO, Mansukhani M, Lu J, Hirano M, DiMauro S.

J Child Neurol. 2013 Feb;28(2):264-8. doi: 10.1177/0883073812441067. Epub 2012 Apr 24.

PMID:
22532554
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

Preisler N, Orngreen MC, Echaniz-Laguna A, Laforet P, Lonsdorfer-Wolf E, Doutreleau S, Geny B, Akman HO, Dimauro S, Vissing J.

Neurology. 2012 Jan 24;78(4):265-8. doi: 10.1212/WNL.0b013e31824365f9. Epub 2012 Jan 11.

PMID:
22238410
[PubMed - indexed for MEDLINE]
17.

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.

Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, Kaji R, Yokota T, Takeda S, Toda T.

Nature. 2011 Oct 5;478(7367):127-31. doi: 10.1038/nature10456.

PMID:
21979053
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.

Akman HO, Sheiko T, Tay SK, Finegold MJ, Dimauro S, Craigen WJ.

Hum Mol Genet. 2011 Nov 15;20(22):4430-9. doi: 10.1093/hmg/ddr371. Epub 2011 Aug 19.

PMID:
21856731
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Animal models of glycogen storage disorders.

Akman HO, Raghavan A, Craigen WJ.

Prog Mol Biol Transl Sci. 2011;100:369-88. doi: 10.1016/B978-0-12-384878-9.00009-1. Review.

PMID:
21377631
[PubMed - indexed for MEDLINE]
20.

Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation.

Dorado B, Area E, Akman HO, Hirano M.

Hum Mol Genet. 2011 Jan 1;20(1):155-64. doi: 10.1093/hmg/ddq453. Epub 2010 Oct 11.

PMID:
20940150
[PubMed - indexed for MEDLINE]
Free PMC Article

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