Search Results - "Vanlander, Arnaud V."

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder by Coughlin, 2nd, Curtis R, Scharer, Gunter H, Friederich, Marisa W, Yu, Hung-Chun, Geiger, Elizabeth A, Creadon-Swindell, Geralyn, Collins, Abigail E, Vanlander, Arnaud V, Coster, Rudy Van, Powell, Christopher A, Swanson, Michael A, Minczuk, Michal, Van Hove, Johan L K, Shaikh, Tamim H

“…Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and…”
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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) by Schuermans, Nika, Hemelsoet, Dimitri, Terryn, Wim, Steyaert, Sanne, Van Coster, Rudy, Coucke, Paul J, Steyaert, Wouter, Callewaert, Bert, Bogaert, Elke, Verloo, Patrick, Vanlander, Arnaud V, Debackere, Elke, Ghijsels, Jody, LeBlanc, Pontus, Verdin, Hannah, Naesens, Leslie, Haerynck, Filomeen, Callens, Steven, Dermaut, Bart, Poppe, Bruce

“…In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015…”
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy by Debray, François-Guillaume, Stümpfig, Claudia, Vanlander, Arnaud V., Dideberg, Vinciane, Josse, Claire, Caberg, Jean-Hubert, Boemer, François, Bours, Vincent, Stevens, René, Seneca, Sara, Smet, Joél, Lill, Roland, van Coster, Rudy

“…Leukodystrophies are a heterogeneous group of severe genetic neurodegenerative disorders. A multiple mitochondrial dysfunctions syndrome was found in an infant…”
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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency by Vantroys, Elise, Smet, Joél, Vanlander, Arnaud V, Vergult, Sarah, De Bruyne, Ruth, Roels, Frank, Stepman, Hedwig, Roeyers, Herbert, Menten, Björn, Van Coster, Rudy

“…The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be…”
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Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function by Rosier, Karen, McDevitt, Molly T., Smet, Joél, Floyd, Brendan J., Verschoore, Maxime, Marcaida, Maria J., Bingman, Craig A., Lemmens, Irma, Dal Peraro, Matteo, Tavernier, Jan, Cravatt, Benjamin F., Gounko, Natalia V., Vints, Katlijn, Monnens, Yenthe, Bhalla, Kritika, Aerts, Laetitia, Rashan, Edrees H., Vanlander, Arnaud V., Van Coster, Rudy, Régal, Luc, Pagliarini, David J., Creemers, John W.M.

“…Deficiency of the serine hydrolase prolyl endopeptidase-like (PREPL) causes a recessive metabolic disorder characterized by neonatal hypotonia, feeding…”
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Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly by Bogaert, Delfien, De Bruyne, Ruth, Vanlander, Arnaud V., Garabedian, Lara, Louis, Yves, Haerynck, Filomeen, Bordon, Victoria, De Moerloose, Barbara

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A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects by Bogaert, Delfien J., Kuehn, Hye Sun, Bonroy, Carolien, Calvo, Katherine R., Dehoorne, Joke, Vanlander, Arnaud V., De Bruyne, Marieke, Cytlak, Urszula, Bigley, Venetia, De Baets, Frans, De Baere, Elfride, Rosenzweig, Sergio D., Haerynck, Filomeen, Dullaers, Melissa

“…[...]our findings indicate a molecular diagnosis of IKAROS haploinsufficiency in patients II:3 and II:4 and their asymptomatic mother (subject I:2). Because…”
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TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism by Jennions, Elizabeth, Hedberg‐Oldfors, Carola, Berglund, Anna‐Karin, Kollberg, Gittan, Törnhage, Carl‐Johan, Eklund, Erik A., Oldfors, Anders, Verloo, Patrick, Vanlander, Arnaud V., De Meirleir, Linda, Seneca, Sara, Sterky, Fredrik H., Darin, Niklas

“…Exome sequencing has recently identified mutations in the gene TANGO2 (transport and Golgi organization 2) as a cause of developmental delay associated with…”
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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling by Schuermans, Nika, El Chehadeh, Salima, Hemelsoet, Dimitri, Gautheron, Jérémie, Vantyghem, Marie-Christine, Nouioua, Sonia, Tazir, Meriem, Vigouroux, Corinne, Auclair, Martine, Bogaert, Elke, Dufour, Sara, Okawa, Fumiya, Hilbert, Pascale, Van Doninck, Nike, Taquet, Marie-Caroline, Rosseel, Toon, De Clercq, Griet, Debackere, Elke, Van Haverbeke, Carole, Cherif, Ferroudja Ramdane, Urtizberea, Jon Andoni, Chanson, Jean-Baptiste, Funalot, Benoit, Authier, François-Jérôme, Kaya, Sabine, Terryn, Wim, Callens, Steven, Depypere, Bernard, Van Dorpe, Jo, Poppe, Bruce, Impens, Francis, Mizushima, Noboru, Depienne, Christel, Jéru, Isabelle, Dermaut, Bart

“…Phospholipase A/acyltransferase 3 (PLAAT3) is a phospholipid-modifying enzyme predominantly expressed in neural and white adipose tissue (WAT). It is a…”
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Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI by Tang, Maoxing, Boel, Annekatrien, Castelluccio, Noemi, Cardona Barberán, Arantxa, Christodoulaki, Antonia, Bekaert, Bieke, Popovic, Mina, Vanden Meerschaut, Frauke, De Sutter, Petra, Menten, Björn, Symoens, Sofie, Vanlander, Arnaud V., Stoop, Dominic, Coucke, Paul J., Heindryckx, Björn

“…Purpose Providing additional insights on the efficacy of human nuclear transfer (NT). Here, and earlier, NT has been applied to minimize transmission risk of…”
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Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (NARS2) by Vanlander, Arnaud V., Menten, Björn, Smet, Joél, De Meirleir, Linda, Sante, Tom, De Paepe, Boel, Seneca, Sara, Pearce, Sarah F., Powell, Christopher A., Vergult, Sarah, Michotte, Alex, De Latter, Elien, Vantomme, Lies, Minczuk, Michal, Van Coster, Rudy

“…ABSTRACT A homozygous missense mutation (c.822G>C) was found in the gene encoding the mitochondrial asparaginyl–tRNA synthetase (NARS2) in two siblings born to…”
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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency by Ahting, Uwe, Mayr, Johannes A, Vanlander, Arnaud V, Hardy, Steven A, Santra, Saikat, Makowski, Christine, Alston, Charlotte L, Zimmermann, Franz A, Abela, Lucia, Plecko, Barbara, Rohrbach, Marianne, Spranger, Stephanie, Seneca, Sara, Rolinski, Boris, Hagendorff, Angela, Hempel, Maja, Sperl, Wolfgang, Meitinger, Thomas, Smet, Joél, Taylor, Robert W, Van Coster, Rudy, Freisinger, Peter, Prokisch, Holger, Haack, Tobias B

“…Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective…”
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Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency by Uwe eAhting, Johannes A Mayr, Arnaud V Vanlander, Steven A Hardy, Saikat eSantra, Christine eMakowski, Charlotte L Alston, Franz A Zimmermann, Lucia eAbela, Barbara ePlecko, Marianne eRohrbach, Stephanie eSpranger, Sara eSeneka, Boris eRolinski, Angela eHagendorff, Maja eHempel, Wolfgang eSperl, Thomas eMeitinger, Thomas eMeitinger, Joél eSmet, Robert W Taylor, Rudy eVan Coster, Peter eFreisinger, Holger eProkisch, Holger eProkisch, Tobias Bernd Haack, Tobias Bernd Haack

“…Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective…”
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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation by Meerschaut, Ilse, Bordon, Victoria, Dhooge, Catharina, Delbeke, Patricia, Vanlander, Arnaud V., Simon, Amos, Klein, Christoph, Kooy, R. Frank, Somech, Raz, Callewaert, Bert

“…VPS45 mutations cause severe congenital neutropenia (SCN). We report on a girl with SCN and neurological impairment harboring a homozygous p.E238K mutation in…”
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Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses by Vanlander, Arnaud V, Muiño Mosquera, Laura, Panzer, Joseph, Deconinck, Tine, Smet, Joél, Seneca, Sara, Van Dorpe, Jo, Ferdinande, Liesbeth, Ceuterick-de Groote, Chantal, De Jonghe, Peter, Van Coster, Rudy, Baets, Jonathan

“…Megaconial congenital muscular dystrophy is a disease caused by pathogenic mutations in the gene encoding choline kinase beta (CHKB). Microscopically, the…”
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Forearm Deoxyhemoglobin and Deoxymyoglobin (Deoxy[Hb + Mb]) Measured by Near-Infrared Spectroscopy (NIRS) Using a Handgrip Test in Mitochondrial Myopathy by Celie, Bert M., Boone, Jan, Smet, Joél E., Vanlander, Arnaud V., De Bleecker, Jan L., Van Coster, Rudy N., Bourgois, Jan G.

“…The purpose of this paper is to test whether peripheral oxygenation responses measured with near-infrared spectroscopy (NIRS) would differ between patients…”
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Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT by Hemelsoet, Dimitri M, Vanlander, Arnaud V, Smet, Joél, Vantroys, Elise, Acou, Marjan, Goethals, Ingeborg, Sante, Tom, Seneca, Sara, Menten, Bjorn, Van Coster, Rudy

“…To report the clinical, radiologic, biochemical, and molecular characteristics in a 46-year-old participant with adult-onset Leigh syndrome (LS), followed by…”
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Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype by Alston, Charlotte L., Compton, Alison G., Formosa, Luke E., Strecker, Valentina, Oláhová, Monika, Haack, Tobias B., Smet, Joél, Stouffs, Katrien, Diakumis, Peter, Ciara, Elżbieta, Cassiman, David, Romain, Nadine, Yarham, John W., He, Langping, De Paepe, Boel, Vanlander, Arnaud V., Seneca, Sara, Feichtinger, René G., Płoski, Rafal, Rokicki, Dariusz, Pronicka, Ewa, Haller, Ronald G., Van Hove, Johan L.K., Bahlo, Melanie, Mayr, Johannes A., Van Coster, Rudy, Prokisch, Holger, Wittig, Ilka, Ryan, Michael T., Thorburn, David R., Taylor, Robert W.

“…Complex I deficiency is the most common biochemical phenotype observed in individuals with mitochondrial disease. With 44 structural subunits and over 10…”
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Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly by Breuss, Martin W., Sultan, Tipu, James, Kiely N., Rosti, Rasim O., Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S., Reuter, Miriam S., Abou Jamra, Rami, Trotta, Christopher R., Gleeson, Joseph G.

“…The tRNA splicing endonuclease is a highly evolutionarily conserved protein complex, involved in the cleavage of intron-containing tRNAs. In human it consists…”
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Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders by Schuermans, Nika, Verdin, Hannah, Ghijsels, Jody, Hellemans, Madeleine, Debackere, Elke, Bogaert, Elke, Symoens, Sofie, Naesens, Leslie, Lecomte, Elien, Crosiers, David, Bergmans, Bruno, Verhoeven, Kristof, Poppe, Bruce, Laureys, Guy, Herdewyn, Sarah, Van Langenhove, Tim, Santens, Patrick, De Bleecker, Jan L, Hemelsoet, Dimitri, Dermaut, Bart

“…Owing to their extensive clinical and molecular heterogeneity, hereditary neurologic diseases in adults are difficult to diagnose. The current knowledge about…”
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