Search Results - "Minassian, B"

Lafora disease: Current biology and therapeutic approaches by Mitra, S., Gumusgoz, E., Minassian, B.A.

“…The ubiquitin system impacts most cellular processes and is altered in numerous neurodegenerative diseases. However, little is known about its role in…”
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Glucose-induced beta cell dysfunction in vivo in rats: link between oxidative stress and endoplasmic reticulum stress by Tang, C., Koulajian, K., Schuiki, I., Zhang, L., Desai, T., Ivovic, A., Wang, P., Robson-Doucette, C., Wheeler, M. B., Minassian, B., Volchuk, A., Giacca, A.

“…Aims/hypothesis Endoplasmic reticulum (ER) stress has been implicated in glucose-induced beta cell dysfunction. However, its causal role has not been…”
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Meningioma genomics: a therapeutic challenge for clinicians by Moussalem, Charbel, Massaad, Elie, Minassian, Georges B, Ftouni, Louna, Bsat, Shadi, Houshiemy, Mohamad N El, Alomari, Safwan, Sarieddine, Rana, Kobeissy, Firas, Omeis, Ibrahim

“…Meningiomas are amongst the most commonly encountered intracranial tumors. The majority of these tumors arise intracranially, and the remaining incidents occur…”
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Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures by Vincent, AK, Noor, A, Janson, A, Minassian, BA, Ayub, M, Vincent, JB, Morel, CF

“…Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB, Morel CF. Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls…”
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NHLRC1 repeat expansion in two beagles with Lafora disease by Hajek, I., Kettner, F., Simerdova, V., Rusbridge, C., Wang, P., Minassian, B. A., Palus, V.

“…Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the…”
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Progressive myoclonus epilepsy with polyglucosans (Lafora disease): Evidence for a third locus by CHAN, E. M, OMER, S, AHMED, M, BRIDGES, L. R, BENNETT, C, SCHERER, S. W, MINASSIAN, B. A

“…Lafora disease (LD) is the most common teenage-onset progressive myoclonus epilepsy. It is caused by recessive mutations in the EPM2A or EPM2B genes. The…”
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Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy by Ruggieri, A, Ramachandran, N, Wang, P, Haan, E, Kneebone, C, Manavis, J, Morandi, L, Moroni, I, Blumbergs, P, Mora, M, Minassian, B.A

“…Highlights • XMEA mutations to date are single-nucleotide changes reducing VMA21 expression. • We now report 2 new non-coding microdeletions reducing VMA21…”
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Genetic diagnosis in Lafora disease : Genotype-phenotype correlations and diagnostic pitfalls by LOHI, H, TURNBULL, J, ZHAO, X. C, PULLENAYEGUM, S, IANZANO, L, YAHYAOUI, M, MIKATI, M. A, FRANCESCHETTI, S, ZARA, F, MINASSIAN, B. A

“…Lafora disease (LD) can be diagnosed by skin biopsy, but this approach has both false negatives and false positives. Biopsies of other organs can also be…”
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Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22 by Chan, E M, Bulman, D E, Paterson, A D, Turnbull, J, Andermann, E, Andermann, F, Rouleau, G A, Delgado-Escueta, A V, Scherer, S W, Minassian, B A

“…Background: Lafora disease is a progressive myoclonus epilepsy with polyglucosan accumulations and a peculiar neurodegeneration with generalised organellar…”
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In vitro antibacterial spectrum of a new broad-spectrum 8-methoxy fluoroquinolone, gatifloxacin by Fung-Tomc, Joan, Minassian, Beatrice, Kolek, Benjamin, Washo, Thomas, Huczko, Elizabeth, Bonner, Daniel

“…The in vitro antibacterial spectrum of gatifloxacin was compared with those of ciprofloxacin and ofloxacin. Gatifloxacin was two- to four-fold more potent than…”
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Magnetoencephalographic localization in pediatric epilepsy surgery: Comparison with invasive intracranial electroencephalography by Minassian, Berge A., Otsubo, Hiroshi, Weiss, Shelly, Elliott, Irene, Rutka, James T., Snead III, O. Carter

“…The object of this study was to determine the concordance of the anatomical location of interictal magnetoencephalographic (MEG) spike foci with the location…”
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Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy by MINASSIAN, B. A, IANZANO, L, MELOCHE, M, ANDERMANN, E, ROULEAU, G. A, DELGADO-ESCUETA, A. V, SCHERER, S. W

“…Lafora's disease is a progressive myoclonus epilepsy with pathognomonic inclusions (polyglucosan bodies) caused by mutations in the EPM2A gene. EPM2A codes for…”
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Skin biopsy in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls by ANDRADE, D. M, ACKERLEY, C. A, MINETT, T. S. C, TEIVE, H. A. G, BOHLEGA, S, SCHERER, S. W, MINASSIAN, B. A

“…Lafora disease is characterized by pathognomonic inclusions, Lafora bodies (LB), in neurons and other cell types. In skin, LB have been reported in either…”
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LAFORA BODIES IN SKELETAL MUSCLE ARE FIBER TYPE SPECIFIC by TURNBULL, J, GIRARD, J.-M, PENCEA, N, ZHAO, X, GRAHAM, T. E, WANG, P, ACKERLEY, C. A, MINASSIAN, B. A

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Antibacterial Spectrum of a Novel Des-Fluoro(6) Quinolone, BMS-284756 by FUNG-TOMC, Joan C, MINASSIAN, Beatrice, KOLEK, Benjamin, HUCZKO, Elizabeth, ALEKSUNES, Lauren, STICKLE, Terry, WASHO, Thomas, GRADELSKI, Elizabeth, VALERA, Lourdes, BONNER, Daniel P

“…Classifications Services AAC Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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FINE-MAPPING THE GENE FOR X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY by MUNTEANU, I, RAMACHANDRAN, N, MNATZAKANIAN, G. N, VILLANOVA, M, FARDEAU, M, LEVY, N, KISSEL, J. T, MINASSIAN, B. A

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Lafora disease: a case report, pathologic and genetic study by Harirchian, M H, Shandiz, E Esmailee, Turnbull, J, Minassian, B A, Shahsiah, R

“…A 19-year-old male patient presented with progressive myoclonic seizures and speech disorder. The patient had photosensitivity, a few episodes of sudden…”
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Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? by Klaus, V, Vermeulen, T, Minassian, B, Israelian, N, Engel, K, Lund, AM, Roebrock, K, Christensen, E, Häberle, J

“…Deficiency of the urea cycle enzyme carbamylphosphate synthetase 1 (CPS1) causes hyperammonemia with a vast range of clinical severity from neonatal onset with…”
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Lafora’s disease: towards a clinical, pathologic, and molecular synthesis by Minassian, Berge A

“…Lafora’s disease is one of five inherited progressive myoclonus epilepsy syndromes. It is an autosomal-recessive disorder with onset in late childhood or…”
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In vitro activity of ravuconazole against Zygomycetes, Scedosporium and Fusarium isolates by Minassian, B., Huczko, E., Washo, T., Bonner, D., Fung-Tomc, J.

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