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Items: 1 to 50 of 60

1.

Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency.

Lopez-Gomez C, Hewan H, Sierra C, Akman HO, Sanchez-Quintero MJ, Juanola-Falgarona M, Tadesse S, Tanji K, Konofagou EE, Hirano M.

EBioMedicine. 2019 Aug;46:356-367. doi: 10.1016/j.ebiom.2019.07.037. Epub 2019 Aug 2.

2.

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.

Larrea D, Pera M, Gonnelli A, Quintana-Cabrera R, Akman HO, Guardia-Laguarta C, Velasco KR, Area-Gomez E, Dal Bello F, De Stefani D, Horvath R, Shy ME, Schon EA, Giacomello M.

Hum Mol Genet. 2019 Jun 1;28(11):1782-1800. doi: 10.1093/hmg/ddz008.

3.

Guaiacol as a drug candidate for treating adult polyglucosan body disease.

Kakhlon O, Ferreira I, Solmesky LJ, Khazanov N, Lossos A, Alvarez R, Yetil D, Pampou S, Weil M, Senderowitz H, Escriba P, Yue WW, Akman HO.

JCI Insight. 2018 Sep 6;3(17). pii: 99694. doi: 10.1172/jci.insight.99694. eCollection 2018 Sep 6.

4.

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.

Vissing J, Akman HO, Aasly J, Kahler SG, Bacino CA, DiMauro S, Haller RG.

Neurology. 2018 Sep 11;91(11):e1077-e1082. doi: 10.1212/WNL.0000000000006165. Epub 2018 Aug 15.

PMID:
30111548
5.

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.

Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ.

Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231.

6.

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.

Schiffmann R, Wallace ME, Rinaldi D, Ledoux I, Luton MP, Coleman S, Akman HO, Martin K, Hogrel JY, Blankenship D, Turner J, Mochel F.

J Inherit Metab Dis. 2018 Sep;41(5):877-883. doi: 10.1007/s10545-017-0103-x. Epub 2017 Nov 6.

PMID:
29110179
7.

A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

Kurt YG, Çoku J, Akman HO, Naini A, Lu J, Engelstad K, Hirano M, De Vivo DC, DiMauro S.

Child Neurol Open. 2016 Apr 4;3:2329048X15627937. doi: 10.1177/2329048X15627937. eCollection 2016 Jan-Dec.

8.

Adult polyglucosan body disease presenting as a unilateral progressive plexopathy.

Naddaf E, Kassardjian CD, Kurt YG, Akman HO, Windebank AJ.

Muscle Nerve. 2016 Jun;53(6):976-81. doi: 10.1002/mus.25041. Epub 2016 Apr 25.

PMID:
26789422
9.

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.

10.

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
11.

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
12.

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M.

Hum Mol Genet. 2015 Feb 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30.

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.

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 Aug;6(8):1016-27. doi: 10.15252/emmm.201404092.

15.

Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency.

Virmani T, Rotstein M, Spiegel R, Akman HO, DiMauro S, Greene PE.

Mov Disord Clin Pract. 2014 Jun 26;1(3):240-242. doi: 10.1002/mdc3.12055. eCollection 2014 Sep. No abstract available.

16.

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.

17.

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. 2014 Oct;29(10):NP105-10. doi: 10.1177/0883073813506783. Epub 2013 Nov 27. Review.

18.

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.

19.

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.

20.

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.

21.

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.

22.

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.

23.

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
24.

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.

25.

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.

26.

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
27.

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.

28.

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.

29.

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
30.

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.

31.

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.

32.

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
33.

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.

34.

Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.

Taratuto AL, Akman HO, Saccoliti M, Riudavets M, Arakaki N, Mesa L, Sevlever G, Goebel H, DiMauro S.

Neuromuscul Disord. 2010 Dec;20(12):783-90. doi: 10.1016/j.nmd.2010.07.275. Epub 2010 Sep 15.

PMID:
20833045
35.

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene.

Akman HO, Davidzon G, Tanji K, Macdermott EJ, Larsen L, Davidson MM, Haller RG, Szczepaniak LS, Lehman TJ, Hirano M, DiMauro S.

Neuromuscul Disord. 2010 Jun;20(6):397-402. doi: 10.1016/j.nmd.2010.04.004. Epub 2010 May 14.

PMID:
20471263
36.

Muscle phosphorylase b kinase deficiency revisited.

Echaniz-Laguna A, Akman HO, Mohr M, Tranchant C, Talmant-Verbist V, Rolland MO, Dimauro S.

Neuromuscul Disord. 2010 Feb;20(2):125-7. doi: 10.1016/j.nmd.2009.11.004. Epub 2010 Jan 18.

PMID:
20080404
37.

Muscle phosphoglycerate mutase deficiency revisited.

Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S.

Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584.

PMID:
19273759
38.

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.

Spiegel R, Gomez EA, Akman HO, Krishna S, Horovitz Y, DiMauro S.

Neuromuscul Disord. 2009 Mar;19(3):207-11. doi: 10.1016/j.nmd.2008.12.004. Epub 2009 Jan 20.

PMID:
19157875
39.

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.

López LC, Akman HO, García-Cazorla A, Dorado B, Martí R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Bonilla E, Tanji K, Hirano M.

Hum Mol Genet. 2009 Feb 15;18(4):714-22. doi: 10.1093/hmg/ddn401. Epub 2008 Nov 21.

40.

Selective activation, expansion, and monitoring of human iNKT cells with a monoclonal antibody specific for the TCR alpha-chain CDR3 loop.

Exley MA, Hou R, Shaulov A, Tonti E, Dellabona P, Casorati G, Akbari O, Akman HO, Greenfield EA, Gumperz JE, Boyson JE, Balk SP, Wilson SB.

Eur J Immunol. 2008 Jun;38(6):1756-66. doi: 10.1002/eji.200737389.

41.

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

Akman HO, Dorado B, López LC, García-Cazorla A, Vilà MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K, Hirano M.

Hum Mol Genet. 2008 Aug 15;17(16):2433-40. doi: 10.1093/hmg/ddn143. Epub 2008 May 8.

42.

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

Ørngreen MC, Schelhaas HJ, Jeppesen TD, Akman HO, Wevers RA, Andersen ST, ter Laak HJ, van Diggelen OP, DiMauro S, Vissing J.

Neurology. 2008 May 13;70(20):1876-82. doi: 10.1212/01.wnl.0000289190.66955.67. Epub 2008 Apr 9.

PMID:
18401027
43.

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.

McCue ME, Valberg SJ, Miller MB, Wade C, DiMauro S, Akman HO, Mickelson JR.

Genomics. 2008 May;91(5):458-66. doi: 10.1016/j.ygeno.2008.01.011. Epub 2008 Mar 20.

44.

Placental involvement in glycogen storage disease type IV.

Konstantinidou AE, Anninos H, Dertinger S, Nonni A, Petersen M, Karadimas C, Havaki S, Marinos E, Akman HO, DiMauro S, Patsouris E.

Placenta. 2008 Apr;29(4):378-81. doi: 10.1016/j.placenta.2008.01.005. Epub 2008 Mar 4.

PMID:
18289670
45.

Juvenile Alpers disease.

Wiltshire E, Davidzon G, DiMauro S, Akman HO, Sadleir L, Haas L, Zuccollo J, McEwen A, Thorburn DR.

Arch Neurol. 2008 Jan;65(1):121-4. doi: 10.1001/archneurol.2007.14.

PMID:
18195149
46.

Neuromuscular forms of glycogen branching enzyme deficiency.

Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S.

Acta Myol. 2007 Jul;26(1):75-8.

47.

Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.

Pancrudo J, Shanske S, Bonilla E, Daras M, Akman HO, Krishna S, Malkin E, DiMauro S.

J Child Neurol. 2007 Jul;22(7):858-62.

PMID:
17715279
48.

Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.

Akman HO, Sampayo JN, Ross FA, Scott JW, Wilson G, Benson L, Bruno C, Shanske S, Hardie DG, Dimauro S.

Pediatr Res. 2007 Oct;62(4):499-504.

PMID:
17667862
49.

Prenatal diagnosis of glycogen storage disease type IV.

Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A, Anninos H, Patsouris E, Thaker HM, Kaplan JB, Besharat I, Hatzikonstantinou K, Fotopoulos S, Dimauro S, Petersen MB.

Prenat Diagn. 2006 Oct;26(10):951-5.

PMID:
16874838
50.

Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis.

Konstantinidou AE, Anninos H, Gyftodimou Y, Petersen MB, Karadimas C, Fotopoulos S, Paraskevakou H, Akman HO, Dimauro S, Patsouris E.

Histopathology. 2006 Jun;48(7):878-80. No abstract available.

PMID:
16722943

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