Search Results - "Jackson, C.E"

Inclusion body myositis functional rating scale: A reliable and valid measure of disease severity by Jackson, C.E., Barohn, R.J., Gronseth, G., Pandya, S., Herbelin, L.

“…We developed a disease‐specific, 10‐point functional rating scale for patients with inclusion body myositis (IBMFRS). The IBMFRS was utilized as a secondary…”
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Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2 by Johnson, D.W, Berg, J.N, Baldwin, M.A, Gallione, C.J, Marondel, I, Yoon, S.-J, Stenzel, T.T, Speer, M, Pericak-Vance, M.A, Diamond, A, Guttmacher, A.E, Jackson, C.E, Attisano, L, Kucherlapati, R, Porteous, M.E.M, Marchuk, D.A

“…Hereditary haemorrhagic telangiectasia, or Osler-Rendu-Weber (ORW) syndrome, is an autosomal dominant vascular dysplasia. So far, two loci have been…”
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Randomized controlled trial of IVIg in untreated chronic inflammatory demyelinating polyradiculoneuropathy by MENDELL, J. R, BAROHN, R. J, LEWIS, R. A, SHY, M, SIMPSON, D. M, PARRY, G. J, RIVNER, M. H, THORNTON, C. A, BROMBERG, M. B, TANDAN, R, HARATI, Y, GIULIANI, M. J, FREIMER, M. L, KISSEL, J. T, KING, W, NAGARAJA, H. N, RICE, R, CAMPBELL, W. W, DONOFRIO, P. D, JACKSON, C. E

“…To determine the efficacy of IV immunoglobulin (IVIg) given patients with untreated chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). A…”
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Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 by McAllister, K.A, Oostra, B.A, Porteous, M.E, Jackson, C.E, Heutink, P, Markel, D.S, Letarte, M, McCormick, M.K, Westerman, C.J.J, Guttmacher, A.E, Grogg, K.M, Marchuk, D.A, Johnson, D.W, Baldwin, M.A, Gallione, C.J, Pericak-Vance, M.A, Haitjema, T, Helmbold, E.A, Murrel, J, McKinnon, W.C

“…Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent haemorrhage…”
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A preliminary evaluation of a prospective study of pulmonary function studies and symptoms of hypoventilation in ALS/MND patients by Jackson, C.E, Rosenfeld, J, Moore, D.H, Bryan, W.W, Barohn, R.J, Wrench, M, Myers, D, Heberlin, L, King, R, Smith, J, Gelinas, D, Miller, R.G

“…There is still no consensus as to which physiologic marker should be used as a trigger for the initiation of non-invasive positive pressure ventilation (NPPV)…”
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Prophylactic total gastrectomy for familial gastric cancer by Lewis, F.R., Mellinger, J.D., Hayashi, A., Lorelli, D., Monaghan, K.G., Carneiro, F., Huntsman, D.G., Jackson, C.E., Caldas, C.

“…Background. An autosomal dominant syndrome of diffuse gastric cancer has been reported with germline mutations in the E-cadherin (CDH1) gene and has been…”
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Clinical studies of multiple endocrine neoplasia type 1 (MEN1) by Trump, D., Farren, B., Wooding, C., Pang, J.T., Besser, G.M., Buchanan, K.D., Edwards, C.R., Heath, D.A., Jackson, C.E., Jansen, S., Lips, K., Monson, J.P., O'Halloran, D., Sampson, J., Shalet, S.M., Wheeler, M.H., Zink, A., Thakker, R.V.

“…Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by the combined occurrence of parathyroid, pancreatic islet and…”
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Superficial peroneal nerve/peroneus brevis muscle biopsy in vasculitic neuropathy by COLLINS, M. P, MENDELL, J. R, PERIQUET, M. I, SAHENK, Z, AMATO, A. A, GRONSETH, G. S, BAROHN, R. J, JACKSON, C. E, KISSEL, J. T

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Genome-wide linkage study in the Amish shows evidence for a chromosome 3 locus in late-onset Alzheimer's disease by Cummings, A.C, Jiang, L, Edwards, D. Velez, Laux, R, McFarland, L.L, Gallins, P.J, Caywood, L, Creason, M, Fuzzell, D, Knebusch, C, Tramontana, M.G, Slifer, M.A, Jackson, C.E, Scott, W.K, Pericak-Vance, M.A, McCauley, J.L, Haines, J.L

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Genome-wide association study for late-onset Alzheimer's disease in the Mid-Western U.S. Amish by Cummings, A.C, Jiang, L, Edwards, D. Velez, Laux, R, McFarland, L.L, Gallins, P.J, Caywood, L, Creason, M, Fuzzell, D, Knebusch, C, Tramontana, M.G, Slifer, M.A, Jackson, C.E, Scott, W.K, Pericak-Vance, M.A, McCauley, J.L, Haines, J.L

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A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34 by McDonald, M.T, Papenberg, K.A, Ghosh, S, Glatfelter, A.A, Biesecker, B.B, Helmbold, E.A, Markel, D.S, Zolotor, A, McKinnon, W.C, Vanderstoep, J.L, Jackson, C.E, Iannuzzi, M, Collins, F.S, Boehnke, M, Porteous, M.E, Guttmacher, A.E, Marchuk, D.A

“…Hereditary haemorrhagic telangiectasia (HHT), or Osler-Weber-Rendu disease, is an autosomal dominant vascular dysplasia of unknown pathogenesis leading to…”
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G.O.5 A new autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein, matrin 3 by Senderek, J, Garvey, S.M, Krieger, M, Tournev, I, Elbracht, M, Roos, A, Stendel, C, Urtizberea, A, Guergueltcheva, V, Mihailova, V, Feit, H, Tramonte, J, Hedera, P, Bergmann, C, Rudnik-Schöneborn, S, Zerres, K, Lochmüller, H, Seboun, E, Beckmann, J.S, Hauser, M.A, Jackson, C.E, Weis, J

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Interleukin-6 and outcomes in patients recently hospitalized with heart failure and preserved ejection fraction by Mooney, L, Jackson, C.E, McConnachie, A, Myles, R, McMurray, J.J.V, Petrie, M.C, Jhund, P.S, Lang, N.N

“…Abstract Introduction Inflammation may play a role in the pathophysiology of heart failure with preserved ejection fraction (HFpEF). Interleukin-6 (IL-6) is an…”
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Profound hypokalaemia mimicking acute myocardial infarction by Dalzell, J.R., Jackson, C.E., Petrie, M.C.

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Histologically benign but clinically malignant: an unusual case of recurrent atrial myxoma by Dalzell, J.R., Jackson, C.E, Castagno, D., Gardner, R.S.

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P1‐100: Genome‐wide association study for late‐onset Alzheimer's disease in the Mid‐Western U.S. Amish by Cummings, A.C., Jiang, L., Edwards, D. Velez, Laux, R., McFarland, L.L., Gallins, P.J., Caywood, L., Creason, M., Fuzzell, D., Knebusch, C., Tramontana, M.G., Slifer, M.A., Jackson, C.E., Scott, W.K., Pericak-Vance, M.A., McCauley, J.L., Haines, J.L.

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O1‐03‐04: Genome‐wide linkage study in the Amish shows evidence for a chromosome 3 locus in late‐onset Alzheimer's disease by Cummings, A.C., Jiang, L., Edwards, D. Velez, Laux, R., McFarland, L.L., Gallins, P.J., Caywood, L., Creason, M., Fuzzell, D., Knebusch, C., Tramontana, M.G., Slifer, M.A., Jackson, C.E., Scott, W.K., Pericak-Vance, M.A., McCauley, J.L., Haines, J.L.

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An autosomal genomic screen for dementia in an extended Amish family by Ashley-Koch, A.E., Shao, Y., Rimmler, J.B., Gaskell, P.C., Welsh-Bohmer, K.A., Jackson, C.E., Scott, W.K., Haines, J.L., Pericak-Vance, M.A.

“…Apolipoprotein E (APOE) is the only universally confirmed susceptibility gene for late-onset Alzheimer disease (LOAD), although many loci are believed to…”
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Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia : evidence for locus heterogeneity by HEATH, H. III, JACKSON, C. E, OTTERUD, B, LEPPERT, M. F

“…Familial benign hypercalcemia (FBH, or hypocalciuric hypercalcemia) is characterized by inheritance, in an autosomal dominant pattern, of lifelong…”
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Distal myasthenia gravis by NATIONS, S. P, WOLFE, G. I, AMATO, A. A, JACKSON, C. E, BRYAN, W. W, BAROHN, R. J

“…Myasthenia gravis (MG) characteristically involves ocular, bulbar, and proximal extremity muscles. Distal extremity muscles are typically spared or less…”
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