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Items: 1 to 50 of 192

1.

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.

Sullivan MA, Nitschke S, Skwara EP, Wang P, Zhao X, Pan XS, Chown EE, Wang T, Perri AM, Lee JPY, Vilaplana F, Minassian BA, Nitschke F.

Cell Rep. 2019 Apr 30;27(5):1334-1344.e6. doi: 10.1016/j.celrep.2019.04.017.

2.

Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy.

Alkhater RA, Wang P, Ruggieri A, Israelian L, Walker S, Scherer SW, Smith ML, Minassian BA.

Ann Clin Transl Neurol. 2019 Mar 7;6(4):807-811. doi: 10.1002/acn3.727. eCollection 2019 Apr.

3.

EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis.

Tashkandi M, Baarma D, Tricco AC, Boelman C, Alkhater R, Minassian BA.

Epileptic Disord. 2019 Feb 1;21(1):30-41. doi: 10.1684/epd.2019.1024.

PMID:
30767897
4.

Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance.

Nicolescu RC, Al-Khawaga S, Minassian BA, Hussain K.

Front Pediatr. 2019 Jan 16;6:424. doi: 10.3389/fped.2018.00424. eCollection 2018.

5.

MYORG is associated with recessive primary familial brain calcification.

Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V.

Ann Clin Transl Neurol. 2018 Nov 15;6(1):106-113. doi: 10.1002/acn3.684. eCollection 2019 Jan.

6.

5,6,7,8-Tetrahydro-1,6-naphthyridine Derivatives as Potent HIV-1-Integrase-Allosteric-Site Inhibitors.

Peese KM, Allard CW, Connolly T, Johnson BL, Li C, Patel M, Sorensen ME, Walker MA, Meanwell NA, McAuliffe B, Minassian B, Krystal M, Parker DD, Lewis HA, Kish K, Zhang P, Nolte RT, Simmermacher J, Jenkins S, Cianci C, Naidu BN.

J Med Chem. 2019 Feb 14;62(3):1348-1361. doi: 10.1021/acs.jmedchem.8b01473. Epub 2019 Jan 18.

PMID:
30609350
7.

Optical coherence tomography features in brothers with aspartylglucosaminuria.

Goodspeed K, Harder L, Hughes S, Conger D, Taravella J, Gray SJ, Minassian B.

Ann Clin Transl Neurol. 2018 Oct 24;5(12):1622-1626. doi: 10.1002/acn3.672. eCollection 2018 Dec.

8.

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.

Alkhater RA, Scherer SW, Minassian BA, Walker S.

Ann Clin Transl Neurol. 2018 Oct 24;5(12):1617-1621. doi: 10.1002/acn3.677. eCollection 2018 Dec.

9.

Lafora Disease: A Review of Molecular Mechanisms and Pathology.

Verhalen B, Arnold S, Minassian BA.

Neuropediatrics. 2018 Dec;49(6):357-362. doi: 10.1055/s-0038-1675238. Epub 2018 Oct 18.

PMID:
30336494
10.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2018 Oct 2. doi: 10.1038/s41436-018-0327-7. [Epub ahead of print]

PMID:
30279470
11.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.

Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. Erratum in: Genet Med. 2018 Oct 2;:.

PMID:
30206421
12.

Lafora disease - from pathogenesis to treatment strategies.

Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA.

Nat Rev Neurol. 2018 Oct;14(10):606-617. doi: 10.1038/s41582-018-0057-0. Review.

13.

Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain".

Vincent A, Macrì A, Tumber A, Koukas N, Ahonen S, Striano P, Minassian B.

Neurology. 2018 Jul 17;91(3):137-139. doi: 10.1212/WNL.0000000000005821. Epub 2018 Jun 15. No abstract available.

14.

Extraneurological sparing in long-lived typical Lafora disease.

Goldsmith D, Minassian BA.

Epilepsia Open. 2018 May 17;3(2):295-298. doi: 10.1002/epi4.12224. eCollection 2018 Jun.

15.

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.

Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA.

Neurol Genet. 2018 May 18;4(3):e242. doi: 10.1212/NXG.0000000000000242. eCollection 2018 Jun.

16.

Global characterization of copy number variants in epilepsy patients from whole genome sequencing.

Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, Cossette P.

PLoS Genet. 2018 Apr 12;14(4):e1007285. doi: 10.1371/journal.pgen.1007285. eCollection 2018 Apr.

17.

Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom.

Ahonen S, Seath I, Rusbridge C, Holt S, Key G, Wang T, Wang P, Minassian BA.

Canine Genet Epidemiol. 2018 Mar 27;5:2. doi: 10.1186/s40575-018-0058-8. eCollection 2018.

18.

Lafora disease offers a unique window into neuronal glycogen metabolism.

Gentry MS, Guinovart JJ, Minassian BA, Roach PJ, Serratosa JM.

J Biol Chem. 2018 May 11;293(19):7117-7125. doi: 10.1074/jbc.R117.803064. Epub 2018 Feb 26. Review.

19.

Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.

Uddin M, Woodbury-Smith M, Chan AJS, Albanna A, Minassian B, Boelman C, Scherer SW.

G3 (Bethesda). 2018 Mar 28;8(4):1115-1118. doi: 10.1534/g3.118.200080.

20.

Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes.

Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SW, Boelman C.

Neurol Genet. 2017 Dec 18;3(6):e199. doi: 10.1212/NXG.0000000000000199. eCollection 2017 Dec.

21.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

22.

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA.

Neurol Genet. 2017 Sep 22;3(5):e189. doi: 10.1212/NXG.0000000000000189. eCollection 2017 Oct. No abstract available.

23.

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.

24.

Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.

Sullivan MA, Nitschke S, Steup M, Minassian BA, Nitschke F.

Int J Mol Sci. 2017 Aug 11;18(8). pii: E1743. doi: 10.3390/ijms18081743. Review.

25.

Update on Pharmacological Treatment of Progressive Myoclonus Epilepsies.

Ferlazzo E, Trenite DK, Haan GJ, Felix Nitschke F, Ahonen S, Gasparini S, Minassian BA.

Curr Pharm Des. 2017;23(37):5662-5666. doi: 10.2174/1381612823666170809114654. Review.

26.

Understanding the brain one amino acid at a time - The case of the FHF1 R52H encephalopathy.

Minassian BA.

Eur J Paediatr Neurol. 2017 Sep;21(5):699-700. doi: 10.1016/j.ejpn.2017.07.013. No abstract available.

PMID:
28784232
27.

Lafora disease in miniature Wirehaired Dachshunds.

Swain L, Key G, Tauro A, Ahonen S, Wang P, Ackerley C, Minassian BA, Rusbridge C.

PLoS One. 2017 Aug 2;12(8):e0182024. doi: 10.1371/journal.pone.0182024. eCollection 2017.

28.

Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.

Andrade DM, Bassett AS, Bercovici E, Borlot F, Bui E, Camfield P, Clozza GQ, Cohen E, Gofine T, Graves L, Greenaway J, Guttman B, Guttman-Slater M, Hassan A, Henze M, Kaufman M, Lawless B, Lee H, Lindzon L, Lomax LB, McAndrews MP, Menna-Dack D, Minassian BA, Mulligan J, Nabbout R, Nejm T, Secco M, Sellers L, Shapiro M, Slegr M, Smith R, Szatmari P, Tao L, Vogt A, Whiting S, Carter Snead O 3rd.

Epilepsia. 2017 Sep;58(9):1502-1517. doi: 10.1111/epi.13832. Epub 2017 Jul 6.

29.

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.

Dad R, Walker S, Scherer SW, Hassan MJ, Alghamdi MD, Minassian BA, Alkhater RA.

Neurol Genet. 2017 May 23;3(3):e156. doi: 10.1212/NXG.0000000000000156. eCollection 2017 Jun. No abstract available.

30.

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA.

Neurol Genet. 2017 May 26;3(3):e148. doi: 10.1212/NXG.0000000000000148. eCollection 2017 Jun.

31.

Genome annotation for clinical genomic diagnostics: strengths and weaknesses.

Steward CA, Parker APJ, Minassian BA, Sisodiya SM, Frankish A, Harrow J.

Genome Med. 2017 May 30;9(1):49. doi: 10.1186/s13073-017-0441-1. Review.

32.

Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.

Nitschke F, Sullivan MA, Wang P, Zhao X, Chown EE, Perri AM, Israelian L, Juana-López L, Bovolenta P, Rodríguez de Córdoba S, Steup M, Minassian BA.

EMBO Mol Med. 2017 Jul;9(7):906-917. doi: 10.15252/emmm.201707608.

33.

Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26.

Dad R, Malik U, Javed A, Minassian BA, Hassan MJ.

Gene. 2017 Aug 30;626:258-263. doi: 10.1016/j.gene.2017.05.041. Epub 2017 May 20.

PMID:
28536081
34.

Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature.

Mishra N, Kouzmitcheva E, Orsino A, Minassian BA.

Child Neurol Open. 2016 Apr 4;3:2329048X16629980. doi: 10.1177/2329048X16629980. eCollection 2016 Jan-Dec.

35.

Everolimus does not prevent Lafora body formation in murine Lafora disease.

Mishra N, Wang P, Goldsmith D, Zhao X, Xue Y, Christians U, Minassian BA.

Neurol Genet. 2017 Jan 9;3(1):e127. doi: 10.1212/NXG.0000000000000127. eCollection 2017 Feb. No abstract available.

36.

Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy.

Munteanu I, Kalimo H, Saraste A, Nishino I, Minassian BA.

Neuromuscul Disord. 2017 Feb;27(2):185-187. doi: 10.1016/j.nmd.2016.10.007. Epub 2016 Oct 19.

PMID:
27916343
37.

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.

Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS.

Am J Hum Genet. 2016 Dec 1;99(6):1359-1367. doi: 10.1016/j.ajhg.2016.10.006. Epub 2016 Nov 17.

38.

FHF1 (FGF12) epileptic encephalopathy.

Al-Mehmadi S, Splitt M; For DDD Study group*, Ramesh V, DeBrosse S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Hamdan FF, Campeau PM, Minassian BA; For CENet Study group‡.

Neurol Genet. 2016 Oct 28;2(6):e115. eCollection 2016 Dec.

39.

NHLRC1 repeat expansion in two beagles with Lafora disease.

Hajek I, Kettner F, Simerdova V, Rusbridge C, Wang P, Minassian BA, Palus V.

J Small Anim Pract. 2016 Nov;57(11):650-652. doi: 10.1111/jsap.12593. Epub 2016 Oct 16.

40.

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.

41.

Progressive Myoclonus Epilepsy: The Gene-Empowered Era.

Minassian BA, Striano P, Avanzini G.

Epileptic Disord. 2016 Sep 1;18(S2):1-2. No abstract available.

42.

Post-modern therapeutic approaches for progressive myoclonus epilepsy.

Minassian BA.

Epileptic Disord. 2016 Sep 1;18(S2):154-158. Review.

43.

Neuronal ceroid lipofuscinoses.

Nita DA, Mole SE, Minassian BA.

Epileptic Disord. 2016 Sep 1;18(S2):73-88. Review.

PMID:
27629553
44.

The history of progressive myoclonus epilepsies.

Genton P, Striano P, Minassian BA.

Epileptic Disord. 2016 Sep 1;18(S2):3-10. Review.

45.

Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA.

Ackerley CA, Cooper MA, Munoz DG, Minassian BA.

Neurology. 2016 Sep 27;87(13):1417-9. doi: 10.1212/WNL.0000000000003155. Epub 2016 Aug 26. No abstract available.

46.

Efficacy and tolerability of perampanel in ten patients with Lafora disease.

Goldsmith D, Minassian BA.

Epilepsy Behav. 2016 Sep;62:132-5. doi: 10.1016/j.yebeh.2016.06.041. Epub 2016 Jul 25.

47.

Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 -10p15.1 and 6q22.31 duplication.

Jones K, Weiss SK, Minassian B.

Clin Case Rep. 2016 Jun 3;4(7):675-7. doi: 10.1002/ccr3.591. eCollection 2016 Jul.

48.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group, van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP.

J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29.

49.

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome.

Rodan LH, Zak M, Stavropoulos J, Joseph-George AM, Minassian BA.

Neurol Genet. 2016 Jan 14;2(1):e43. doi: 10.1212/NXG.0000000000000043. eCollection 2016 Feb.

50.

Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation.

Nascimento FA, Borlot F, Cossette P, Minassian BA, Andrade DM.

Neurol Genet. 2015 Oct 15;1(4):e28. doi: 10.1212/NXG.0000000000000028. eCollection 2015 Dec.

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