Search Results - "O'Ferrall, E."

A missense mutation in the putative sarcoplasmic reticulum transmembrane protein DCST2 causes dominant strongman syndrome by Brais, B, Conte, T, Dicaire, M, Tetreault, M, O'Ferrall, E, Ravenscroft, G, Laing, N, Lamont, P, Taivasssalo, T, Hepple, R, Mathieu, J

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AUTOIMMUNE & INFLAMMATORY NMD by Alrasheed, K., Brais, B., Schulz, J., Wein, T., Karamchandani, J., O'Ferrall, E.

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AUTOIMMUNE & INFLAMMATORY NMD: EP.18 Oculopharyngeal Muscular dystrophy patients with treatment-responsive, statin-associated autoimmune necrotic myopathy by Alrasheed, K., Brais, B., Schulz, J., Wein, T., Karamchandani, J., O'Ferrall, E.

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DISTAL MYOPATHIES: EP.72 Isoform specific variant in MLIP as a potential cause of adult-onset distal myopathy by Mezreani, J., Martin, F., Audet, S., Triassi, V., Charbonneau, J., Bareke, E., Laplante, A., Brais, B., O'Ferrall, E., Karamchandani, J., Tetreault, M.

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DISTAL MYOPATHIES by Mezreani, J., Martin, F., Audet, S., Triassi, V., Charbonneau, J., Bareke, E., Laplante, A., Brais, B., O'Ferrall, E., Karamchandani, J., Tetreault, M.

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Health-Related Quality of Life (HRQoL) in Idiopathic Inflammatory Myopathy: A Systematic Review by Leclair, Valérie, Regardt, Malin, Wojcik, Sophie, Hudson, Marie

“…Health-related quality of life (HRQoL) is a research priority in chronic diseases. We undertook a systematic review (registration #CRD42015024939) to identify,…”
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G.P.197 by Conte, T.C, Tetreault, M, Dicaire, M.J, Provost, S.M, Al-Bustani, N, Beland, B, Dube, M.P, Bolduc, V, Srour, M, O’Ferrall, E, Bouchard, J.P, Ravenscroft, G, Laing, N, Lamont, P, Mathieu, J, Hepple, R.T, Brais, B

“…Muscle mass and strength are variable traits in humans. Many French Canadians (FC) became international celebrities because of their exceptional strength…”
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O.23 Anoctamin 5 (ANO5) subcellular localization in skeletal muscle by Conte, T.C, Bolduc, V, Larivière, R, Boycott, K.M, Inoue, H, Itakura, M, Robitaille, Y, Leblanc, N, Mahjneh, I, Bashir, R, O’Ferrall, E, Brais, B

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P.79 - Mouse model of BAG3 myofibrillar myopathy by Robertson, R., Conte, T., Dicaire, M., Bryson-Richardson, R., Lavoie, J., O'Ferrall, E., Young, J., Brais, B.

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Mouse model of BAG3 myofibrillar myopathy by Robertson, R., Conte, T., Dicaire, M., Bryson-Richardson, R., Lavoie, J., O'Ferrall, E., Young, J., Brais, B.

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Inhibition of Aberrant and Constitutive Phosphorylation of the High‐Molecular‐Mass Neurofilament Subunit by CEP‐1347 (KT7515), an Inhibitor of the Stress‐Activated Protein Kinase Signaling Pathway by O'Ferrall, Erin K., Robertson, Janice, Mushynski, Walter E.

“…: Previous studies have implicated stress‐activated proteinkinases (SAPKs) in aberrant phosphorylation of the high‐molecular‐massneurofilament subunit (NFH)…”
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P.16 - A missense mutation in the putative sarcoplasmic reticulum transmembrane protein DCST2 causes dominant strongman syndrome by Brais, B., Conte, T., Dicaire, M., Tetreault, M., O'Ferrall, E., Ravenscroft, G., Laing, N., Lamont, P., Taivasssalo, T., Hepple, R., Mathieu, J.

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Covalent Attachment of Synthetic DNA to Self-Assembled Monolayer Films by Chrisey, Linda A., Lee, Gil U, O'Ferrall, C. Elizabeth

“…The covalent attachment of thiol-modified DNA oligomers to self-assembled monolayer silane films on fused silica and oxidized silicon substrates is described…”
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The role of muscle biopsy in the age of genetic testing by O'Ferrall, Erin K, Sinnreich, Michael

“…The purpose of this review is to discuss the role of muscle biopsy in the current age of genetic testing. The diagnostic approach to patients with suspected…”
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G.P.126 “Strongman syndrome”: A new autosomal dominant herculean painful myopathy by Al-Bustani, N, Tétreault, M, Provost, S, Bolduc, V, Srour, M, O’Ferrall, E.K, Dubé, M.P, Bouchard, J.P, Ravenscroft, G, Laing, N.G, Bignell, D, Lamont, P.J, Mathieu, J, Brais, B

“…Abstract The objective was to define clinical criteria for a novel autosomal dominant (AD) herculean painful myopathy. We reviewed the clinical assessment of…”
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Characterization of Six Novel Mutations in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in Patients With Homocystinuria by Sibani, S, Christensen, B, O'Ferrall, E, Saadi, I, Hiou-Tim, F, Rosenblatt, D S, Rozen, R

“…Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) is the most common inborn error of folate metabolism. Patients are characterized by severe…”
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Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation by Sibani, Sahar, Leclerc, Daniel, Weisberg, Ilan S., O'Ferrall, Erin, Watkins, David, Artigas, Carmen, Rosenblatt, David S., Rozen, Rima

“…Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5‐methyltetrahydrofolate, a major methyl donor for homocysteine remethylation to methionine. Severe…”
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Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria by Sibani, Sahar, Christensen, Benedicte, O'Ferrall, Erin, Saadi, Irfan, Hiou-Tim, François, Rosenblatt, David S., Rozen, Rima

“…Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) is the most common inborn error of folate metabolism. Patients are characterized by severe…”
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Photochemistry and Patterning of Self-Assembled Monolayer Films Containing Aromatic Hydrocarbon Functional Groups by Dulcey, Charles S, Georger, Jacque H, Chen, Mu-San, McElvany, Stephen W, O'Ferrall, C. Elizabeth, Benezra, Valarie I, Calvert, Jeffrey M

“…The deep ultraviolet (λ < ∼250 nm) photochemistry of chemisorbed organosilane self-assembled films of the type R(CH2) n SiO−surface where n = 0, 1, 2 and R =…”
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Fabrication of Patterned DNA Surfaces by Chrisey, Linda A., O'Ferrall, C. Elizabeth, Spargo, Barry J., Dulcey, Charles S., Calvert, Jeffrey M.

“…Two photolithographic methods are described for the formation of patterned single or multiple DNA species on SiO2 substrates. In the first approach, substrates…”
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