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

Por Scharer, Gunter, Brocker, Chad, Vasiliou, Vasilis, Creadon-Swindell, Geralyn, Gallagher, Renata C., Spector, Elaine, Van Hove, Johan L. K.
Publicado em 2010

Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a...

Por Bennett, Brian, Helbling, Daniel, Meng, Hui, Jarzembowski, Jason, Geurts, Aron M., Friederich, Marisa W., Van Hove, Johan L. K., Lawlor, Michael W., Dimmock, David P.
Publicado no Free Radic Biol Med (2016)

Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria

Por Keating, Amy K., Freehauf, Cynthia, Jiang, Hua, Brodsky, Gary L., Stabler, Sally P., Allen, Robert H., Graham, Douglas K., Thomas, Janet A., Van Hove, Johan L.K., Maclean, Kenneth N.
Publicado em 2011

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

Por Van Hove, Johan L.K., Saenz, Margarita S., Thomas, Janet A., Gallagher, Renata, Lovell, Mark A., Fenton, Laura Z., Shanske, Sarah, Myers, Sommer M., Wanders, Ronald J. A., Ruiter, Jos, Turkenburg, Marjolein, Waterham, Hans R.
Publicado em 2010

Genetic Basis of Glycogen Storage Disease Type 1a: Prevalent Mutations at the Glucose-6-Phosphatase Locus

Por Lei, Ke-Jian, Chen, Yuan-Tsong, Chen, Hungwen, Wong, Lee-Jun C., Liu, Ji-Lan, McConkie-Rosell, Allyn, Van Hove, Johan L. K., Ou, Henry C.-Y., Yeh, Nan Jung, Pan, Lorraine Y., Chou, Janice Yang
Publicado em 1995

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

Por Chatfield, Kathryn C., Coughlin, Curtis R., Friederich, Marisa W., Gallagher, Renata C., Hesselberth, Jay R., Lovell, Mark A., Ofman, Rob, Swanson, Michael A., Thomas, Janet A., Wanders, Ronald J.A., Wartchow, Eric P., Van Hove, Johan L.K.
Publicado no Mitochondrion (2015)

Disease-causing Mutations in Exon 11 of the Medium-Chain Acyl-CoA Dehydrogenase Gene

Por Andresen, Brage Storstein, Jensen, Thomas G., Bross, Peter, Knudsen, Inga, Winter, Vibeke, Kølvraa, Steen, Bolund, Lars, Ding, Jia-Huan, Chen, Yuan-Tsong, Van Hove, Johan L. K., Curtis, Diana, Yokota, Ichiro, Tanaka, Kay, Kim, Jung-Ja Park, Gregersen, Niels
Publicado em 1994

Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation

Por Kendrick, Agnieszka A., Choudhury, Mahua, Rahman, Shaikh M., McCURDY, Carrie E., Friederich, Marisa, Van Hove, Johan L. K., Watson, Peter A., Birdsey, Nicholas, Bao, Jianjun, Gius, David, Sack, Michael N., Jing, Enxuan, Kahn, C. Ronald, Friedman, Jacob E., Jonscher, Karen R.
Publicado em 2011

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

Por Swanson, Michael A., Coughlin, Curtis R., Scharer, Gunter H., Szerlong, Heather J., Bjoraker, Kendra J., Spector, Elaine B., Creadon‐Swindell, Geralyn, Mahieu, Vincent, Matthijs, Gert, Hennermann, Julia B., Applegarth, Derek A., Toone, Jennifer R., Tong, Suhong, Williams, Kristina, Van Hove, Johan L. K.
Publicado no Ann Neurol (2015)

Case Definition and Classification of Leukodystrophies and Leukoencephalopathies

Por Vanderver, Adeline, Prust, Morgan, Tonduti, Davide, Mochel, Fanny, Hussey, Heather M., Helman, Guy, Garbern, James, Eichler, Florian, Labauge, Pierre, Aubourg, Patrick, Rodriguez, Diana, Patterson, Marc C., Van Hove, Johan L.K., Schmidt, Johanna, Wolf, Nicole I., Boespflug-Tanguy, Odile, Schiffmann, Raphael, van der Knaap, Marjo S.
Publicado no Mol Genet Metab (2015)

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

Por 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
Publicado no Genet Med (2014)

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Por Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.
Publicado em 2013

Clinical and biochemical characterization of four patients with mutations in ECHS1

Por Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, 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.
Publicado no Orphanet J Rare Dis (2015)

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Por 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.
Publicado no Am J Hum Genet (2016)

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Por Baker, Peter R., Friederich, Marisa W., Swanson, Michael A., Shaikh, Tamim, Bhattacharya, Kaustuv, Scharer, Gunter H., Aicher, Joseph, Creadon-Swindell, Geralyn, Geiger, Elizabeth, MacLean, Kenneth N., Lee, Wang-Tso, Deshpande, Charu, Freckmann, Mary-Louise, Shih, Ling-Yu, Wasserstein, Melissa, Rasmussen, Malene B., Lund, Allan M., Procopis, Peter, Cameron, Jessie M., Robinson, Brian H., Brown, Garry K., Brown, Ruth M., Compton, Alison G., Dieckmann, Carol L., Collard, Renata, Coughlin, Curtis R., Spector, Elaine, Wempe, Michael F., Van Hove, Johan L.K.
Publicado em 2014