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31 results for Van+Hove,+Johan+L.+K.

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Prediction of long-term outcome in glycine encephalopathy: a clinical survey
Author / Creator:Hennermann, Julia B. ; Berger, Jeanne-Marie ; Grieben, Ulrike ; Scharer, Gunter ; Van Hove, Johan L. K.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.253-261
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Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment
Author / Creator:Balderas, Enrique ; Eberhardt, David R. ; Lee, Sandra ; Pleinis, John M. ; Sommakia, Salah ; Balynas, Anthony M. ; Yin, Xue ; Parker, Mitchell C. ; Maguire, Colin T. ; Cho, Scott ; Szulik, Marta W. ; Bakhtina, Anna ; Bia, Ryan D. ; Friederich, Marisa W. ; Locke, Timothy M. ; Van Hove, Johan L. K. ; Drakos, Stavros G. ; Sancak, Yasemin ; Tristani-Firouzi, Martin ; Franklin, Sarah ; Rodan, Aylin R. ; Chaudhuri, Dipayan
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2022-05, Vol.13 (1), p.2769-2769, Article 2769
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The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype
Author / Creator:Van Hirtum, Liesbet D F M ; Van Damme, Tine ; Van Hove, Johan L K ; Steyaert, Jean G
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.150-150, Article 150
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Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG
Author / Creator:Ligezka, Anna N ; Budhraja, Rohit ; Nishiyama, Yurika ; Fiesel, Fabienne C ; Preston, Graeme ; Edmondson, Andrew ; Ranatunga, Wasantha ; Van Hove, Johan L K ; Watzlawik, Jens O ; Springer, Wolfdieter ; Pandey, Akhilesh ; Morava, Eva ; Kozicz, Tamas
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-08, Vol.14 (8), p.1585
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Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
Author / Creator:Shelkowitz, Emily ; Saneto, Russell P ; Al-Hertani, Walla ; Lubout, Charlotte M A ; Stence, Nicholas V ; Brown, Mark S ; Long, Patrick ; Walleigh, Diana ; Nelson, Julie A ; Perez, Francisco E ; Shaw, Dennis W W ; Michl, Emma J ; Van Hove, Johan L K
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.423-423, Article 423
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Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment
Author / Creator:Balderas, Enrique ; Eberhardt, David R. ; Lee, Sandra ; Pleinis, John M. ; Sommakia, Salah ; Balynas, Anthony M. ; Yin, Xue ; Parker, Mitchell C. ; Maguire, Colin T. ; Cho, Scott ; Szulik, Marta W. ; Bakhtina, Anna ; Bia, Ryan D. ; Friederich, Marisa W. ; Locke, Timothy M. ; Van Hove, Johan L. K. ; Drakos, Stavros G. ; Sancak, Yasemin ; Tristani-Firouzi, Martin ; Franklin, Sarah ; Rodan, Aylin R. ; Chaudhuri, Dipayan
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2022-06, Vol.13 (1), p.3532-3532, Article 3532
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ArticlesPeer ReviewedFull Text
Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels
Author / Creator:Shelkowitz, Emily ; Saneto, Russell P ; Al-Hertani, Walla ; Lubout, Charlotte M A ; Stence, Nicholas V ; Brown, Mark S ; Long, Patrick ; Walleigh, Diana ; Nelson, Julie A ; Perez, Francisco E ; Shaw, Dennis W W ; Michl, Emma J ; Van Hove, Johan L K
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.54-54, Article 54
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genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
Author / Creator:Scharer, Gunter ; Brocker, Chad ; Vasiliou, Vasilis ; Creadon-Swindell, Geralyn ; Gallagher, Renata C ; Spector, Elaine ; Van Hove, Johan L. K
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.571-581
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D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)
Author / Creator:Van Hove, Johan LK ; Grünewald, Stephanie ; Jaeken, Jaak ; Demaerel, Philippe ; Declercq, Peter E ; Bourdoux, Pierre ; Niezen-Koning, Klary ; Deanfeld, John E ; Leonard, James V
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 2003-04, Vol.361 (9367), p.1433-1435
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COQ2 nephropathy: a treatable cause of nephrotic syndrome in children
Author / Creator:Starr, Michelle C. ; Chang, Irene J. ; Finn, Laura S. ; Sun, Angela ; Larson, Austin A. ; Goebel, Jens ; Hanevold, Coral ; Thies, Jenny ; Van Hove, Johan L. K. ; Hingorani, Sangeeta R. ; Lam, Christina
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2018-07, Vol.33 (7), p.1257-1261
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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Author / Creator:Coughlin, 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
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-08, Vol.52 (8), p.532-540
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ArticlesPeer ReviewedFull Text
Clinical and biochemical characterization of four patients with mutations in ECHS1
Author / Creator:Ferdinandusse, Sacha ; Friederich, Marisa W ; Burlina, Alberto ; Ruiter, Jos P N ; Coughlin, 2nd, Curtis R ; Dishop, Megan K ; Gallagher, Renata C ; Bedoyan, Jirair K ; Vaz, Frédéric M ; Waterham, Hans R ; Gowan, Katherine ; Chatfield, Kathryn ; Bloom, Kaitlyn ; Bennett, Michael J ; Elpeleg, Orly ; Van Hove, Johan L K ; Wanders, Ronald J A
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.79-79, Article 79
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Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene
Author / Creator:Van Hove, Johan L. K. ; Freehauf, Cynthia ; Miyamoto, Shelley ; Vladutiu, Georgirene D. ; Pancrudo, Jacklyn ; Bonilla, Eduardo ; Lovell, Mark A. ; Mierau, Gary W. ; Thomas, Janet A. ; Shanske, Sara
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2008-07, Vol.167 (7), p.771-776
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ArticlesPeer ReviewedFull Text
Urea cycle disorders: brain MRI and neurological outcome
Author / Creator:Bireley, William R. ; Van Hove, Johan L. K. ; Gallagher, Renata C. ; Fenton, Laura Z.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Pediatric radiology, 2012-04, Vol.42 (4), p.455-462
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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease
Author / Creator:Poquérusse, Jessie ; Nolan, Melinda ; Thorburn, David R. ; Van Hove, Johan L. K. ; Friederich, Marisa W. ; Love, Donald R. ; Taylor, Juliet ; Powell, Christopher A. ; Minczuk, Michal ; Snell, Russell G. ; Lehnert, Klaus ; Glamuzina, Emma ; Jacobsen, Jessie C.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2023-05, Vol.64 (3), p.223-232
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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Author / Creator:Parikh, Sumit ; Goldstein, Amy ; Koenig, Mary Kay ; Scaglia, Fernando ; Enns, Gregory M. ; Saneto, Russell ; Anselm, Irina ; Cohen, Bruce H. ; Falk, Marni J. ; Greene, Carol ; Gropman, Andrea L. ; Haas, Richard ; Hirano, Michio ; Morgan, Phil ; Sims, Katherine ; Tarnopolsky, Mark ; Van Hove, Johan L.K. ; Wolfe, Lynne ; DiMauro, Salvatore
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2015-09, Vol.17 (9), p.689-701
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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
Author / Creator:Karaa, Amel ; Bertini, Enrico ; Carelli, Valerio ; Cohen, Bruce ; Ennes, Gregory M ; Falk, Marni J ; Goldstein, Amy ; Gorman, Gráinne ; Haas, Richard ; Hirano, Michio ; Klopstock, Thomas ; Koenig, Mary Kay ; Kornblum, Cornelia ; Lamperti, Costanza ; Lehman, Anna ; Longo, Nicola ; Molnar, Maria Judit ; Parikh, Sumit ; Phan, Han ; Pitceathly, Robert D S ; Saneto, Russekk ; Scaglia, Fernando ; Servidei, Serenella ; Tarnopolsky, Mark ; Toscano, Antonio ; Van Hove, Johan L K ; Vissing, John ; Vockley, Jerry ; Finman, Jeffrey S ; Abbruscato, Anthony ; Brown, David A ; Sullivan, Alana ; Shiffer, James A ; Mancuso, Michelango
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-11, Vol.19 (1), p.431-12, Article 431
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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Author / Creator:Coughlin, Curtis R. ; Swanson, Michael A. ; Kronquist, Kathryn ; Acquaviva, Cécile ; Hutchin, Tim ; Rodríguez-Pombo, Pilar ; Väisänen, Marja-Leena ; Spector, Elaine ; Creadon-Swindell, Geralyn ; Brás-Goldberg, Ana M. ; Rahikkala, Elisa ; Moilanen, Jukka S. ; Mahieu, Vincent ; Matthijs, Gert ; Bravo-Alonso, Irene ; Pérez-Cerdá, Celia ; Ugarte, Magdalena ; Vianey-Saban, Christine ; Scharer, Gunter H. ; Van Hove, Johan L.K.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2017-01, Vol.19 (1), p.104-111
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Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
Author / Creator:van Rijt, Willemijn J. ; Jager, Emmalie A. ; Allersma, Derk P. ; Aktuğlu Zeybek, A. Çiğdem ; Bhattacharya, Kaustuv ; Debray, François-Guillaume ; Ellaway, Carolyn J. ; Gautschi, Matthias ; Geraghty, Michael T. ; Gil-Ortega, David ; Larson, Austin A. ; Moore, Francesca ; Morava, Eva ; Morris, Andrew A. ; Oishi, Kimihiko ; Schiff, Manuel ; Scholl-Bürgi, Sabine ; Tchan, Michel C. ; Vockley, Jerry ; Witters, Peter ; Wortmann, Saskia B. ; van Spronsen, Francjan ; Van Hove, Johan L. K. ; Derks, Terry G. J.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-05, Vol.22 (5), p.908-916
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ArticlesPeer ReviewedFull Text
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Author / Creator:Coughlin, Curtis R ; Swanson, Michael A ; Kronquist, Kathryn ; Acquaviva, Cécile ; Hutchin, Tim ; Rodríguez-Pombo, Pilar ; Väisänen, Marja-Leena ; Spector, Elaine ; Creadon-Swindell, Geralyn ; Brás-Goldberg, Ana M ; Rahikkala, Elisa ; Moilanen, Jukka S ; Mahieu, Vincent ; Matthijs, Gert ; Bravo-Alonso, Irene ; Pérez-Cerdá, Celia ; Ugarte, Magdalena ; Vianey-Saban, Christine ; Scharer, Gunter H ; Van Hove, Johan L K
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-09, Vol.20 (9), p.1098-1098
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Prediction of long-term outcome in glycine encephalopathy: a clinical survey

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Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment

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The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype

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Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG

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Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

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Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment

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Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

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genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1

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D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)

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COQ2 nephropathy: a treatable cause of nephrotic syndrome in children

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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

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Clinical and biochemical characterization of four patients with mutations in ECHS1

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Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene

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Urea cycle disorders: brain MRI and neurological outcome

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Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial

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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

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Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

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Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

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