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Lee, J., Luria, A., Rhodes, C., Raghu, H., Sharpe, O., Robinson, W., Sokolove, J.
Published in Annals of the rheumatic diseases (01.06.2016)
Published in Annals of the rheumatic diseases (01.06.2016)
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Acinetobacter calcoaceticus-Acinetobacter baumannii complex in animals: identification and antimicrobial resistance profile
Holmström, Thérèsse C.H., David, Luria A., Motta, Cássia C., Rocha-de-Souza, Claudio M., Maboni, Grazieli, Coelho, Irene S., Melo, Dayanne A., Souza, Miliane M.S.
Published in Pesquisa Veterinária Brasileira (01.01.2022)
Published in Pesquisa Veterinária Brasileira (01.01.2022)
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Differential Localization of Conventional Protein Kinase C Isoforms During Mouse Oocyte Development
LURIA, A, TENNENBAUM, T, QING YUAN SUN, RUBINSTEIN, S, BREITBART, H
Published in Biology of reproduction (01.06.2000)
Published in Biology of reproduction (01.06.2000)
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Involvement of MEK-Mitogen-Activated Protein Kinase Pathway in Follicle-Stimulating Hormone-Induced but Not Spontaneous Meiotic Resumption of Mouse Oocytes
SU, You-Qiang, RUBINSTEIN, Sara, LURIA, Ayala, LAX, Yehudit, BREITBART, Haim
Published in Biology of reproduction (01.08.2001)
Published in Biology of reproduction (01.08.2001)
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124P Hidden in plain sight: genome reanalysis to identify an intragenic novel variant in the SMN locus in a patient with an undiagnosed lower motor neuron disease
Haliloğlu, G., Donkervoort, S., Weisburd, B., Öz Yıldız, S., Ceylaner, S., Pais, L., O'Donnell-Luria, A., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
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257P Interim analysis of an integrated interdisciplinary diagnostic pathway in a cohort of unsolved pediatric neuromuscular disorders
Haliloğlu, G., Donkervoort, S., Yıldız, S. Öz, Özel, E., Pais, L., Ganesh, V., O'Donnell-Luria, A., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
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O.01 Correlating molecular genetic testing for rare genetic variants with a broad clinicopathologic spectrum of congenital myopathies
Jayaraman, D., Genetti, C., Aykanat, A., Win, W., Valivullah, Z., O'Heir, E., Darras, B., Laine, R., O'Donnell-Luria, A., Beggs, A.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES
Aykanat, A., Genetti, C., Win, W., Valivullah, Z., O'Heir, E., Darras, B., Laine, R., O'Donnell-Luria, A., Beggs, A.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES: P.332 Role of whole exome sequencing in identifying rare genetic variants in a cohort of patients presenting with congenital myopathy
Aykanat, A., Genetti, C., Win, W., Valivullah, Z., O'Heir, E., Darras, B., Laine, R., O'Donnell-Luria, A., Beggs, A.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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P.155 Recurring homozygous ACTN2 variant (p.Arg506Gly) cause a recessive, adult-onset myofibrillar myopathy
Donkervoort, S., Mohassel, P., O'Leary, M., Hartley, T., Mozaffar, T., Saporta, M., Dyment, D., Austin-Tse, C., Verma, S., Hurth, K., Warman-Chardon, J., O'Donnell-Luria, A., Bönnemann, C.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs
Published in American journal of human genetics (07.04.2022)
Published in American journal of human genetics (07.04.2022)
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Phase 1/2 study of the safety and efficacy of APL-101, a specific c-MET inhibitor
Kizilbash, S.H., El-Khoueiry, A., Lerner, R.E., Ma, P.C., Almubarak, M., Mody, K., Burkard, M.E., Guarino, M., Jenab-Wolcott, J., Sankar, N., Choy, G., Espiritu, L., Zhang, X., Luria, A., Benedetti, F., Dees, E.C.
Published in European journal of cancer (1990) (01.10.2020)
Published in European journal of cancer (1990) (01.10.2020)
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Sunlight and other risk factors for cataracts: an epidemiologic study
Collman, G W, Shore, D L, Shy, C M, Checkoway, H, Luria, A S
Published in American journal of public health (1971) (01.11.1988)
Published in American journal of public health (1971) (01.11.1988)
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CONGENITAL MUSCULAR DYSTROPHIES: P.203 Recessive variants in COL25A1 are responsible for arthrogryposis multiplex congenita with an ocular congenital cranial dysinnervation disorder
Natera-de Benito, D., Zaharieva, I., Pini, V., Manzur, A., Munot, P., DiTroia, S. Parker, Gioia, S. Di, Jurgens, J., Barry, B., England, E., Ledoux, D., O´Donell-Luria, A., MacArthur, D., Feng, L., Phadke, R., Sarkozy, A., Engle, E., Muntoni, F.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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CONGENITAL MUSCULAR DYSTROPHIES
Natera-de Benito, D., Zaharieva, I., Pini, V., Manzur, A., Munot, P., DiTroia, S. Parker, Gioia, S. Di, Jurgens, J., Barry, B., England, E., Ledoux, D., O´Donell-Luria, A., MacArthur, D., Feng, L., Phadke, R., Sarkozy, A., Engle, E., Muntoni, F.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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C28 SEX, DRUGS, AND PULMONARY HYPERTENSION: Immunodeficiency Mediate The Gender Dimorphism In Pulmonary Hypertension
Tamosiuniene, R, Nguyen, L P, Saito, T, Luria, A, Sante, J, Sung, Y, Rabinovitch, M, Habtezion, A, Nicolls, M R
Published in American journal of respiratory and critical care medicine (01.01.2015)
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Published in American journal of respiratory and critical care medicine (01.01.2015)
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Bone formation in organ cultures of bone marrow
Luria, E A, Owen, M E, Friedenstein, A J, Morris, J F, Kuznetsow, S A
Published in Cell and tissue research (01.05.1987)
Published in Cell and tissue research (01.05.1987)
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