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Items: 1 to 20 of 76

1.

Lafora disease.

Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA.

Epileptic Disord. 2016 Sep 1;18(S2):38-62. Review.

PMID:
27702709
2.

Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.

Opri R, Fabrizi GM, Cantalupo G, Ferrarini M, Simonati A, Dalla Bernardina B, Darra F.

Seizure. 2016 Nov;42:1-6. doi: 10.1016/j.seizure.2016.08.008. Epub 2016 Sep 5. Review.

PMID:
27632409
3.

Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials.

Michelucci R, Pasini E, Riguzzi P, Andermann E, Kälviäinen R, Genton P.

Epileptic Disord. 2016 Sep 1;18(S2):145-153. Review.

PMID:
27629998
4.

Brain glycogen in health and disease.

Duran J, Guinovart JJ.

Mol Aspects Med. 2015 Dec;46:70-7. doi: 10.1016/j.mam.2015.08.007. Epub 2015 Sep 5. Review.

PMID:
26344371
5.

Glycogen phosphorylation and Lafora disease.

Roach PJ.

Mol Aspects Med. 2015 Dec;46:78-84. doi: 10.1016/j.mam.2015.08.003. Epub 2015 Aug 13. Review.

6.

Progressive Myoclonus Epilepsies.

Kälviäinen R.

Semin Neurol. 2015 Jun;35(3):293-9. doi: 10.1055/s-0035-1552620. Epub 2015 Jun 10. Review.

PMID:
26060909
7.

The progressive myoclonic epilepsies.

Malek N, Stewart W, Greene J.

Pract Neurol. 2015 Jun;15(3):164-71. doi: 10.1136/practneurol-2014-000994. Epub 2015 Feb 26. Review.

PMID:
25720773
8.

Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy.

Romá-Mateo C, Aguado C, García-Giménez JL, Knecht E, Sanz P, Pallardó FV.

Free Radic Biol Med. 2015 Nov;88(Pt A):30-41. doi: 10.1016/j.freeradbiomed.2015.01.034. Epub 2015 Feb 10. Review.

PMID:
25680286
9.

Lafora disease with novel autopsy findings: a case report with endocrine involvement and literature review.

Corcia L, Hohensee S, Olivero A, Wong J.

Pediatr Neurol. 2014 Nov;51(5):713-6. doi: 10.1016/j.pediatrneurol.2014.07.034. Epub 2014 Aug 7. Review.

PMID:
25217339
10.

Transition for patients with epilepsy due to metabolic and mitochondrial disorders.

Kossoff EH, Veggiotti P, Genton P, Desguerre I.

Epilepsia. 2014 Aug;55 Suppl 3:37-40. doi: 10.1111/epi.12709. Review.

11.
12.

Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases.

Ebrahimi-Fakhari D, Wahlster L, Hoffmann GF, Kölker S.

Pediatr Res. 2014 Jan;75(1-2):217-26. doi: 10.1038/pr.2013.185. Epub 2013 Oct 28. Review. Erratum in: Pediatr Res. 2014 Sep;76(3):323.

PMID:
24165736
13.

Progressive myoclonus epilepsy.

Girard JM, Turnbull J, Ramachandran N, Minassian BA.

Handb Clin Neurol. 2013;113:1731-6. doi: 10.1016/B978-0-444-59565-2.00043-5. Review.

PMID:
23622396
14.

Storage diseases: diagnostic position.

Goebel HH, Müller HD.

Ultrastruct Pathol. 2013 Feb;37(1):19-22. doi: 10.3109/01913123.2012.670060. Review.

PMID:
23383614
15.

Lafora disease: severe phenotype associated with homozygous deletion of the NHLRC1 gene.

Kecmanović M, Jović N, Cukić M, Keckarević-Marković M, Keckarević D, Stevanović G, Romac S.

J Neurol Sci. 2013 Feb 15;325(1-2):170-3. doi: 10.1016/j.jns.2012.12.006. Epub 2013 Jan 11. Review.

PMID:
23317923
16.

Complex single gene disorders and epilepsy.

Merwick A, O'Brien M, Delanty N.

Epilepsia. 2012 Sep;53 Suppl 4:81-91. doi: 10.1111/j.1528-1167.2012.03617.x. Review.

17.

Deciphering the role of malin in the lafora progressive myoclonus epilepsy.

Romá-Mateo C, Sanz P, Gentry MS.

IUBMB Life. 2012 Oct;64(10):801-8. doi: 10.1002/iub.1072. Epub 2012 Jul 20. Review.

18.

Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?

Singh S, Ganesh S.

J Hum Genet. 2012 May;57(5):283-5. doi: 10.1038/jhg.2012.29. Epub 2012 Mar 29. Review.

PMID:
22456482
19.

Oxidative stress in developmental brain disorders.

Hayashi M, Miyata R, Tanuma N.

Adv Exp Med Biol. 2012;724:278-90. doi: 10.1007/978-1-4614-0653-2_21. Review.

PMID:
22411250
20.

Lafora progressive myoclonus epilepsy: recent insights into cell degeneration.

Spuch C, Ortolano S, Navarro C.

Recent Pat Endocr Metab Immune Drug Discov. 2012 May;6(2):99-107. Review.

PMID:
22369717

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