Search Results - "Hayflick, S. J."

Clinical and genetic delineation of neurodegeneration with brain iron accumulation by Gregory, A, Polster, B J, Hayflick, S J

“…Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive neurodegenerative disorders characterised by high brain iron and the…”
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T2 and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation by MCNEILL, A, BIRCHALL, D, HAYFLICK, S. J, GREGORY, A, SCHENK, J. F, ZIMMERMAN, E. A, SHANG, H, MIYAJIMA, H, CHINNERY, P. F

“…Neurodegeneration with brain iron accumulation (NBIA) defines a group of genetic disorders characterized by brain iron deposition and associated with neuronal…”
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Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation by KRUER, M. C, BODDAERT, N, SCHNEIDER, S. A, HOULDEN, H, BHATIA, K. P, GREGORY, A, ANDERSON, J. C, ROONEY, W. D, HOGARTH, P, HAYFLICK, S. J

“…NBIA characterizes a class of neurodegenerative diseases that feature a prominent extrapyramidal movement disorder, intellectual deterioration, and a…”
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Neurodegeneration associated with genetic defects in phospholipase A2 by GREGORY, A, WESTAWAY, S. K, RODRIGUEZ, D, DESGUERRE, I, BERTINI, E, SIMONATI, A, LEVINSON, B, DIAS, C, BARBOT, C, CARRILHO, I, SANTOS, M, MALIK, I, HOLM, I. E, GITSCHIER, J, HAYFLICK, S. J, KOTZBAUER, P. T, HOGARTH, P, SONEK, S, CORYELL, J. C, NGUYEN, T. M, NARDOCCI, N, ZORZI, G

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Disruption of nNOS‐PSD95 protein–protein interaction inhibits acute thermal hyperalgesia and chronic mechanical allodynia in rodents by Florio, SK, Loh, C, Huang, SM, Iwamaye, AE, Kitto, KF, Fowler, KW, Treiberg, JA, Hayflick, JS, Walker, JM, Fairbanks, CA, Lai, Y

“…Background and purpose:  Post‐synaptic density protein 95 (PSD95) contains three PSD95/Dosophilia disc large/ZO‐1 homology domains and links neuronal nitric…”
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Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation by Timmermann, L., Pauls, K. A. M., Wieland, K., Jech, R., Kurlemann, G., Sharma, N., Gill, S. S., Haenggeli, C. A., Hayflick, S. J., Hogarth, P., Leenders, K. L., Limousin, P., Malanga, C. J., Moro, E., Ostrem, J. L., Revilla, F. J., Santens, P., Schnitzler, A., Tisch, S., Valldeoriola, F., Vesper, J., Volkmann, J., Woitalla, D., Peker, S.

“…Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron…”
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Brain MRI in Neurodegeneration with Brain Iron Accumulation with and without PANK2 Mutations by Hayflick, S.J, Hartman, M, Coryell, J, Gitschier, J, Rowley, H

“…Patients with a clinical diagnosis of neurodegeneration with brain iron accumulation (NBIA, formerly called Hallervorden-Spatz syndrome) often have mutations…”
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Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration by Kuo, Y. M, Hayflick, S. J, Gitschier, J

“…We asked whether a movement disorder could be elicited by deprivation of pantothenic acid (PA; vitamin B₅), the substrate for the enzyme pantothenate kinase 2…”
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HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration by CHING, K. H. L, WESTAWAY, S. K, GITSCHIER, J, HIGGINS, J. J, HAYFLICK, S. J

“…HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to…”
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Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase-Associated Neurodegeneration by Lee, J-H, Gregory, A, Hogarth, P, Rogers, C, Hayflick, S J

“…A detailed delineation of the MR imaging changes in the globus pallidus in pantothenate kinase-associated neurodegeneration will be helpful for diagnosis and…”
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Neurodegeneration associated with genetic defects in phospholipase A(2) by Gregory, A, Westaway, S K, Holm, I E, Kotzbauer, P T, Hogarth, P, Sonek, S, Coryell, J C, Nguyen, T M, Nardocci, N, Zorzi, G, Rodriguez, D, Desguerre, I, Bertini, E, Simonati, A, Levinson, B, Dias, C, Barbot, C, Carrilho, I, Santos, M, Malik, I, Gitschier, J, Hayflick, S J

“…Mutations in the gene encoding phospholipase A(2) group VI (PLA2G6) are associated with two childhood neurologic disorders: infantile neuroaxonal dystrophy…”
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Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13 by Davis, Suzanne, Nardocci, Nardo, Hattori, Haruo, Cilio, M. Roberta, Angelini, Lucia, Taylor, Todd D, Litt, Michael, Pandolfo, Massimo, Flett, Peter J, Pineda, M, Hayflick, Susan J, Kramer, Patricia, Bertini, Enrico

“…Hallervorden-Spatz syndrome (HSS) (OMIM #234200) is a rare, autosomal recessive neurode-generative disorder with brain iron accumulation as a prominent…”
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PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease by Illingworth, M.A., Meyer, E., Chong, W.K., Manzur, A.Y., Carr, L.J., Younis, R., Hardy, C., McDonald, F., Childs, A.M., Stewart, B., Warren, D., Kneen, R., King, M.D., Hayflick, S.J., Kurian, M.A.

“…Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). We…”
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PANK2 mutation screening recommended to confirm diagnosis of pantothenate kinase-associated neurodegeneration by Gregory, A, Hayflick, S J

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Human epidermal growth factor receptor cDNA sequence and aberrant expression of the amplified gene in A431 epidermoid carcinoma cells by Ullrich, A, Coussens, L, Hayflick, J. S, Dull, T. J, Gray, A, Tam, A. W, Lee, J, Yarden, Y, Libermann, T. A, Schlessinger, J, Downward, J, Mayes, E. L. V, Whittle, N, Waterfield, M. D, Seeburg, P. H

“…The complete 1,210-amino acid sequence of the human epidermal growth factor (EGF) receptor precursor, deduced from cDNA clones derived from placental and A431…”
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A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration : evidence for a founder effect by RUMP, P, LEMMINK, H. H, VERSCHUUREN-BEMELMANS, C. C, GROOTSCHOLTEN, P. M, FOCK, J. M, HAYFLICK, S. J, WESTAWAY, S. K, VOS, Y. J, VAN ESSEN, A. J

“…Mutation analysis was performed in four apparently unrelated Dutch families with pantothenate kinase-associated neurodegeneration, formerly known as…”
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Isolation of the Gene and Hypothalamic cDNA for the Common Precursor of Gonadotropin-Releasing Hormone and Prolactin Release-Inhibiting Factor in Human and Rat by Adelman, John P., Mason, Anthony J., Hayflick, Joel S., Seeburg, Peter H.

“…Cloned cDNAs encoding the precursor protein for gonadotropin-releasing hormone (Gn-RH) and prolacting release-inhibiting factor (PIF) were isolated from…”
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Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome by Hayflick, Susan J, Westaway, Shawn K, Levinson, Barbara, Zhou, Bing, Johnson, Monique A, Ching, Katherine H.L, Gitschier, Jane

“…Hallervorden–Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and brain iron accumulation. The authors found that all…”
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Cloning and Expression in Escherichia coli of the cDNA for Murine Tumor Necrosis Factor by Pennica, Diane, Hayflick, Joel S., Bringman, Timothy S., Palladino, Michael A., Goeddel, David V.

“…A murine tumor necrosis factor (MuTNF) cDNA was isolated from a cDNA library prepared by using mRNA from the murine macrophage-like cell line PU5-1.8 induced…”
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Spontaneous Murine Neuroaxonal Dystrophy: a Model of Infantile Neuroaxonal Dystrophy by Bouley, D.M., McIntire, J.J., Harris, B.T., Tolwani, R.J., Otto, G.M., DeKruyff, R.H., Hayflick, S.J.

“…The neuroaxonal dystrophies (NADs) in human beings are fatal, inherited, neurodegenerative diseases with distinctive pathological features. This report…”
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