Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 27

1.

Adulthood leukodystrophies.

Köhler W, Curiel J, Vanderver A.

Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Review.

PMID:
29302065
2.

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
3.

A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease.

Solmesky LJ, Khazanov N, Senderowitz H, Wang P, Minassian BA, Ferreira IM, Yue WW, Lossos A, Weil M, Kakhlon O.

Biochem J. 2017 Sep 28;474(20):3403-3420. doi: 10.1042/BCJ20170469.

4.

Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy.

Alvarez R, Casas J, López DJ, Ibarguren M, Suari-Rivera A, Terés S, Guardiola-Serrano F, Lossos A, Busquets X, Kakhlon O, Escribá PV.

J Lipid Res. 2017 Aug;58(8):1598-1612. doi: 10.1194/jlr.M075531. Epub 2017 Jun 19.

5.

Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease.

López Chiriboga AS.

Neurology. 2017 May 16;88(20):e194-e195. doi: 10.1212/WNL.0000000000003945. No abstract available.

PMID:
28507268
6.

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
7.

Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease.

Furtado LV, Kadri S, Wurst MN, Long BC, Segal JP, Pytel P.

Muscle Nerve. 2016 Mar;53(3):473-5. doi: 10.1002/mus.25017.

PMID:
26670585
8.

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

Froese DS, Michaeli A, McCorvie TJ, Krojer T, Sasi M, Melaev E, Goldblum A, Zatsepin M, Lossos A, Álvarez R, Escribá PV, Minassian BA, von Delft F, Kakhlon O, Yue WW.

Hum Mol Genet. 2015 Oct 15;24(20):5667-76. doi: 10.1093/hmg/ddv280. Epub 2015 Jul 21.

9.

Frequent misdiagnosis of adult polyglucosan body disease.

Hellmann MA, Kakhlon O, Landau EH, Sadeh M, Giladi N, Schlesinger I, Kidron D, Abramsky O, Reches A, Argov Z, Rabey JM, Chapman J, Rosenmann H, Gal A, Moshe Gomori J, Meiner V, Lossos A.

J Neurol. 2015 Oct;262(10):2346-51. doi: 10.1007/s00415-015-7859-4. Epub 2015 Jul 21.

PMID:
26194201
10.

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.

Colombo I, Pagliarani S, Testolin S, Salsano E, Napoli LM, Bordoni A, Salani S, D'Adda E, Morandi L, Farina L, Magri F, Riva M, Prelle A, Sciacco M, Comi GP, Moggio M.

Neuromuscul Disord. 2015 May;25(5):423-8. doi: 10.1016/j.nmd.2015.01.015. Epub 2015 Feb 7.

PMID:
25728520
11.

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
12.

A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.

Sampaolo S, Esposito T, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, Di Iorio G.

Neuromuscul Disord. 2015 Mar;25(3):247-52. doi: 10.1016/j.nmd.2014.11.006. Epub 2014 Nov 18.

PMID:
25544507
13.

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.

14.

Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

Sagnelli A, Savoiardo M, Marchesi C, Morandi L, Mora M, Morbin M, Farina L, Mazzeo A, Toscano A, Pagliarani S, Lucchiari S, Comi GP, Salsano E, Pareyson D.

Neuromuscul Disord. 2014 Mar;24(3):272-6. doi: 10.1016/j.nmd.2013.11.006. Epub 2013 Nov 19.

PMID:
24380807
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.

16.

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.

17.

Childhood presentation of "adult" polyglucosan body disease: normal GBE1 sequence with no glycogen branching enzyme activity.

Bathgate D, Wigley R, Gorman G, Horvath R, Chinnery PF.

Ann Neurol. 2013 Feb;73(2):317-8. doi: 10.1002/ana.23854. No abstract available.

PMID:
23526558
18.

Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease.

Dainese L, Monin ML, Demeret S, Brochier G, Froissart R, Spraul A, Schiffmann R, Seilhean D, Mochel F.

Gene. 2013 Feb 25;515(2):376-9. doi: 10.1016/j.gene.2012.12.065. Epub 2012 Dec 21.

PMID:
23266647
19.

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
20.

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.

Supplemental Content

Loading ...
Support Center