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Your search keyword '"Philippe, M."' showing total 15 results
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15 results on '"Philippe, M."'

3. Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome

Author

Karimi, Karim, Lichtenstein, Yael, Reilly, Jack, McConkey, Haley, Relator, Raissa, Levy, Michael A., Kerkhof, Jennifer, Bouman, Arjan, Symonds, Joseph D., Ghoumid, Jamal, Smol, Thomas, Clarkson, Katie, Drazba, Katy, Louie, Raymond J., Miranda, Valancy, McCann, Cathleen, Motta, Jamie, Lancaster, Emily, Sallevelt, Suzanne, Sidlow, Richard, Morrison, Jennifer, Hannibal, Mark, O'Shea, Jessica, Marin, Victor, Prasad, Chitra, Patel, Chirag, Raskin, Salmo, Maria-Noelia, Seco Moro, Diaz de Bustamante, Aranzazú, Marom, Daphna, Barkan, Tali, Keren, Boris, Poirsier, Celine, Cohen, Lior, Colin, Estelle, Gorman, Kathleen, Gallant, Emily, Menke, Leonie A., Valenzuela Palafoll, Irene, Hauser, Natalie, Wentzensen, Ingrid M., Rankin, Julia, Turnpenny, Peter D., Campeau, Philippe M., Balci, Tugce B., Tedder, Matthew L., Sadikovic, Bekim, and Weiss, Karin

Published
2025
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9. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

Author

Sabeh, Pascale, Dumas, Samantha A., Maios, Claudia, Daghar, Hiba, Korzeniowski, Marek, Rousseau, Justine, Lines, Matthew, Guerin, Andrea, Millichap, John J., Landsverk, Megan, Grebe, Theresa, Lindstrom, Kristin, Strober, Jonathan, Ait Mouhoub, Tarik, Zweier, Christiane, Steinraths, Michelle, Hebebrand, Moritz, Callewaert, Bert, Abou Jamra, Rami, Kautza-Lucht, Monika, Wegler, Meret, Kruszka, Paul, Kumps, Candy, Banne, Ehud, Waberski, Marta Biderman, Dieux, Anne, Raible, Sarah, Krantz, Ian, Medne, Livija, Pechter, Kieran, Villard, Laurent, Guerrini, Renzo, Bianchini, Claudia, Barba, Carmen, Mei, Davide, Blanc, Xavier, Kallay, Christine, Ranza, Emmanuelle, Yang, Xiao-Ru, O'Heir, Emily, Donald, Kirsten A., Murugasen, Serini, Bruwer, Zandre, Calikoglu, Muge, Mathews, Jennifer M., Lesieur-Sebellin, Marion, Baujat, Geneviève, Derive, Nicolas, Pierson, Tyler Mark, Murrell, Jill R., Shillington, Amelle, Ormieres, Clothilde, Rondeau, Sophie, Reis, André, Fernandez-Jaen, Alberto, Au, Ping Yee Billie, Sweetser, David A., Briere, Lauren C., Couque, Nathalie, Perrin, Laurence, Schymick, Jennifer, Gueguen, Paul, Lefebvre, Mathilde, Van Andel, Michael, Juusola, Jane, Antonarakis, Stylianos E., Parker, J. Alex, Burnett, Barrington G., and Campeau, Philippe M.

Published
2025
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12. Adsorption‐Based Electrochemical Sensor Design for the Aqueous Detection of Paracetamol.

Author

De Smedt, Pieter J., Lauwers, Aline, Vereecken, Philippe M., De Vos, Dirk E., and Ameloot, Rob

Subjects
ELECTROCHEMICAL sensors, CARBON-black, DETECTION limit, ACETAMINOPHEN, ZEOLITES
Abstract

This study investigates the critical role of adsorption in the development of electrochemical sensors, focusing on carbon (Vulcan XC72R, acetylene black, and graphite) and zeolite (high‐silica ZSM‐5 and all‐silica zeolite β) materials. Based on the paracetamol adsorption characteristics of these materials, an optimized disposable electrochemical sensor is created. This sensor exhibits a linear range of up to 5 μM and a remarkable detection limit of 150 nM (S/N = 3), ≈1000‐time improvement over the blank sensor. Moreover, paracetamol can be measured selectively because glucose has no adsorption affinity for the selected sensor materials. These findings underscore the significance of adsorption properties in sensor material selection in enhancing sensitivity and robustness against interfering species. [ABSTRACT FROM AUTHOR]

Published
2025
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14. Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.

Author

Record CJ, O'Connor A, Verbeek NE, van Rheenen W, Zamba Papanicolaou E, Peric S, Ligthart PC, Skorupinska M, van Binsbergen E, Campeau PM, Ivanovic V, Hennigan B, McHugh JC, Blake JC, Murakami Y, Laura M, Murphy SM, and Reilly MM

Subjects
Humans, Male, Female, Child, Child, Preschool, Adolescent, Motor Neuron Disease genetics, Motor Neuron Disease physiopathology, Pedigree, Membrane Proteins genetics, Neural Conduction physiology, Neural Conduction genetics, Infant, Tremor genetics, Seizures, Febrile genetics, Phenotype
Abstract

Biallelic variants in phosphatidylinositol glycan anchor biosynthesis, class G (PIGG) cause hypotonia, intellectual disability, seizures, and cerebellar features. We present 8 patients from 6 families with a childhood-onset motor neuropathy and neurophysiology demonstrating variable motor conduction block and temporal dispersion. All individuals had a childhood onset tremor, 5 of 8 had cerebellar involvement, and 6 of 8 had childhood febrile seizures. All individuals have biallelic PIGG variants, including the previously reported pathogenic variant Trp505*, plus 6 novel variants. Null enzyme activity is demonstrated via PIGO/PIGG double knockout system for Val339Gly and Gly19Glu, and residual activity for Trp505* due to read-through. Emm negative blood group status was confirmed in 1 family. PIGG should be considered in unsolved motor neuropathy. ANN NEUROL 2025;97:388-396., (© 2024 The Author(s). Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.)

Published
2025
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15. Reversible Redox Probes to Determine Band-Edge Locations and Dopant Concentrations of Nano-TiO 2 Thin-Films: Settling the Mott-Schottky Conundrum.

Author

Khurana DA, Plankensteiner N, Vermang B, and Vereecken PM

Abstract

Knowing the exact location of the semiconductor band-edges is key for mechanistic insights into their use for water and CO 2 photo/electrocatalysis. In this regard, a reliable strategy for nano-semiconductors did not exist yet. We demonstrate the use of reversible redox probes on nano-semiconductor electrodes to determine their band-edge locations in aqueous solutions. Rectifying current-potential (i-U) characteristics with the high work function (i.e. more positive formal potential) Fe(CN) 6 3- /Fe(CN) 6 4- redox couple yielded the exact flatband potential at various pH whereas the reversible i-U characteristics with the low work function (i.e. more negative formal potential) Ru(NH 3 ) 6 3+ /Ru(NH 3 ) 6 2+ redox couple provided the conduction band-edge location and dopant concentration for a 30 nm thin-film n-TiO 2 . The methodology can be extended to other nano-semiconductors and serves as an alternative to and goes beyond the capabilities of the Mott-Schottky procedure for bulk semiconductor electrodes., (© 2024 Wiley-VCH GmbH.)

Published
2025
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