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Items: 1 to 20 of 93

1.

Adult Polyglucosan Body Disease presenting as a unilateral progressive plexopathy.

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

Muscle Nerve. 2016 Jan 20. doi: 10.1002/mus.25041. [Epub ahead of print]

PMID:
26789422
2.

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
3.

3'UTR shortening and EGF signaling: implications for breast cancer.

Akman HB, Oyken M, Tuncer T, Can T, Erson-Bensan AE.

Hum Mol Genet. 2015 Dec 15;24(24):6910-20. doi: 10.1093/hmg/ddv391. Epub 2015 Sep 22.

PMID:
26395459
4.
5.

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
6.

ALCAM is indirectly modulated by miR-125b in MCF7 cells.

Akman HB, Selcuklu SD, Donoghue MT, Akhavantabasi S, Sapmaz A, Spillane C, Yakicier MC, Erson-Bensan AE.

Tumour Biol. 2015 May;36(5):3511-20. doi: 10.1007/s13277-014-2987-5. Epub 2014 Dec 25.

PMID:
25539763
7.

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
8.

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.

9.

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.

10.

Alternative polyadenylation and its impact on cellular processes.

Akman HB, Erson-Bensan AE.

Microrna. 2014;3(1):2-9. Review.

PMID:
25069507
11.

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

12.

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.

13.

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.

14.

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.

15.

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
16.

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.

17.

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.

18.

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.

19.

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.

20.

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
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