Search Results - "Kaminska, Anna"

High‐throughput cell‐free screening of eukaryotic membrane protein expression in lipidic mimetics by Bruni, Renato, Laguerre, Aisha, Kaminska, Anna‐Maria, McSweeney, Sean, Hendrickson, Wayne A., Liu, Qun

“…Membrane proteins play essential roles in cellular function and metabolism. Nonetheless, biophysical and structural studies of membrane proteins are impeded by…”
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A Sommerfeld toolbox for colored dark sectors by El Hedri, Sonia, Kaminska, Anna, de Vries, Maikel

“…We present analytical formulas for the Sommerfeld corrections to the annihilation of massive colored particles into quarks and gluons through the strong…”
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Recurrent de novo mutations in CLDN5 induce an anion-selective blood–brain barrier and alternating hemiplegia by Hashimoto, Yosuke, Poirier, Karine, Boddaert, Nathalie, Hubert, Laurence, Aubart, Melodie, Kaminska, Anna, Alison, Marianne, Desguerre, Isabelle, Munnich, Arnold, Campbell, Matthew

“…Abstract Claudin-5 is the most enriched tight junction protein at the blood–brain barrier. Perturbations in its levels of expression have been observed across…”
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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy by Barcia, Giulia, Fleming, Matthew R, Deligniere, Aline, Gazula, Valeswara-Rao, Brown, Maile R, Langouet, Maeva, Chen, Haijun, Kronengold, Jack, Abhyankar, Avinash, Cilio, Roberta, Nitschke, Patrick, Kaminska, Anna, Boddaert, Nathalie, Casanova, Jean-Laurent, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier, Kaczmarek, Leonard K, Colleaux, Laurence, Nabbout, Rima

“…Rima Nabbout and colleagues report the identification of de novo mutations in the KCNT1 potassium channel gene in individuals with malignant migrating partial…”
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Simplified phenomenology for colored dark sectors by El Hedri, Sonia, Kaminska, Anna, de Vries, Maikel, Zurita, Jose

“…A bstract We perform a general study of the relic density and LHC constraints on simplified models where the dark matter coannihilates with a strongly…”
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Non-universal gaugino masses and fine tuning implications for SUSY searches in the MSSM and the GNMSSM by Kaminska, Anna, Ross, Graham G., Schmidt-Hoberg, Kai

“…A bstract For the case of the MSSM and the most general form of the NMSSM (GN-MSSM) we determine the reduction in the fine tuning that follows from allowing…”
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Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy by Lusakowska, Anna, Jedrzejowska, Maria, Kaminska, Anna, Janiszewska, Katarzyna, Grochowski, Przemysław, Zimowski, Janusz, Sierdzinski, Janusz, Kostera-Pruszczyk, Anna

“…Spinal muscular atrophy (SMA) is one of the most frequent and severe genetic diseases leading to premature death or severe motor disability. New therapies have…”
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Molecular Dynamics of Steroidal Rotors Probed by Theoretical, Spectroscopic and Dielectric Methods by Olszewska, Karolina, Mizera, Adam, Ławniczak, Paweł, Kamińska, Anna, Santillan, Rosa, Morales‐Chamorro, Maricela, Ochoa, Ma. Eugenia, Farfán, Norberto, Łapiński, Andrzej, Górecki, Marcin, Jastrzebska, Izabella, Runka, Tomasz

“…Our study focuses on molecular rotors with fast‐moving rotators and their potential applications in the development of new amphidynamic crystals. Steroidal…”
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Oxidative stress in the pathogenesis of keratoconus and Fuchs endothelial corneal dystrophy by Wojcik, Katarzyna A, Kaminska, Anna, Blasiak, Janusz, Szaflik, Jerzy, Szaflik, Jacek P

“…Due to its localization and function, the cornea is regularly exposed to sunlight and atmospheric oxygen, mainly dioxygen, which produce reactive oxygen…”
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A Conserved Switch in Sensory Processing Prepares Developing Neocortex for Vision by Colonnese, Matthew T., Kaminska, Anna, Minlebaev, Marat, Milh, Mathieu, Bloem, Bernard, Lescure, Sandra, Moriette, Guy, Chiron, Catherine, Ben-Ari, Yehezkel, Khazipov, Rustem

“…Developing cortex generates endogenous activity that modulates the formation of functional units, but how this activity is altered to support mature function…”
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Rapid Cortical Oscillations and Early Motor Activity in Premature Human Neonate by Milh, Mathieu, Kaminska, Anna, Huon, Catherine, Lapillonne, Alexandre, Ben-Ari, Yehezkel, Khazipov, Rustem

“…Delta-brush is the dominant pattern of rapid oscillatory activity (8–25 Hz) in the human cortex during the third trimester of gestation. Here, we studied the…”
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Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb–Girdle Muscular Dystrophy Patients by Macias, Anna, Fichna, Jakub Piotr, Topolewska, Malgorzata, Rȩdowicz, Maria J., Kaminska, Anna M., Kostera-Pruszczyk, Anna

“…Limb–girdle muscular dystrophy type R1 (LGMDR1) is caused by mutations in CAPN3 and is the most common type of recessive LGMD. Even with the use of whole-exome…”
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Influence of Different Packaging Materials on the Composition of the Headspace of Rennet Cheeses under Different Modified Atmosphere Conditions by Zulewska, Justyna, Lobacz, Adriana, Bialobrzewski, Ireneusz, Grochowina, Adam, Kaminska, Anna

“…The aim of this study was to analyze the influence of different packaging materials on the composition of the headspace (CO and O ) of rennet cheeses packed in…”
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Validation of Postinduction Curie Scores in High-Risk Neuroblastoma: A Children's Oncology Group and SIOPEN Group Report on SIOPEN/HR-NBL1 by Yanik, Gregory A, Parisi, Marguerite T, Naranjo, Arlene, Nadel, Helen, Gelfand, Michael J, Park, Julie R, Ladenstein, Ruth L, Poetschger, Ulrike, Boubaker, Ariane, Valteau-Couanet, Dominique, Lambert, Bieke, Castellani, Maria-Rita, Bar-Sever, Zvi, Oudoux, Aurore, Kaminska, Anna, Kreissman, Susan G, Shulkin, Barry L, Matthay, Katherine K

“…A semiquantitative I-metaiodobenzylguanidine ( I-MIBG) scoring method (the Curie score, or CS) was previously examined in the Children's Oncology Group (COG)…”
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Motor Unit Number Index (MUNIX) as a biomarker of motor unit loss in post-polio syndrome versus needle EMG by Gawel, Malgorzata, Zalewska, Ewa, Szmidt-Salkowska, Elżbieta, Lipowska, Marta, Lusakowska, Anna, Kaminska, Anna M., Kostera-Pruszczyk, Anna

“…MUNIX method (Motor Unit Number Index) had been not used to assess number of motor neurons in post-polio syndrome in contrary to needle electromyography. To…”
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The needle EMG findings in myotonia congenita by Nojszewska, Monika, Lusakowska, Anna, Gawel, Malgorzata, Sierdzinski, Janusz, Sulek, Anna, Krysa, Wioletta, Elert-Dobkowska, Ewelina, Seroka, Andrzej, Kaminska, Anna M., Kostera-Pruszczyk, Anna

“…Myotonia congenita (MC) is caused by pathogenic variants in the CLCN1 gene coding the chloride channel protein. To test the hypothesis that needle EMG could be…”
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Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy by Wojciechowska, Marzena, Sobczak, Krzysztof, Kozlowski, Piotr, Sedehizadeh, Saam, Wojtkowiak-Szlachcic, Agnieszka, Czubak, Karol, Markus, Robert, Lusakowska, Anna, Kaminska, Anna, Brook, J. David

“…Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in affected genes…”
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Screening for late‐onset Pompe disease in Poland by Jastrzębska, Aleksandra, Potulska‐Chromik, Anna, Łusakowska, Anna, Jastrzębski, Miłosz, Lipowska, Marta, Kierdaszuk, Biruta, Kamińska, Anna, Kostera‐Pruszczyk, Anna

“…Objectives We aimed to screen for late‐onset Pompe disease using the dried blood spot (DBS) test in a cohort of patients with limb‐girdle muscle weakness or…”
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The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 2) by Koutroumanidis, Michalis, Arzimanoglou, Alexis, Caraballo, Roberto, Goyal, Sushma, Kaminska, Anna, Laoprasert, Pramote, Oguni, Hirokazu, Rubboli, Guido, Tatum, William, Thomas, Pierre, Trinka, Eugen, Vignatelli, Luca, Moshé, Solomon L.

“…ABSTRACT The concept of epilepsy syndromes, introduced in 1989, was defined as “clusters of signs and symptoms customarily occurring together”. Definition of…”
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Auditory stimuli mimicking ambient sounds drive temporal "delta-brushes" in premature infants by Chipaux, Mathilde, Colonnese, Matthew T, Mauguen, Audrey, Fellous, Laure, Mokhtari, Mostafa, Lezcano, Oscar, Milh, Mathieu, Dulac, Olivier, Chiron, Catherine, Khazipov, Rustem, Kaminska, Anna

“…In the premature infant, somatosensory and visual stimuli trigger an immature electroencephalographic (EEG) pattern, "delta-brushes," in the corresponding…”
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