Corrigendum: Swanson MA, Coughlin CR Jr, Scharer GH, et al: Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015;78:606–618.

par Swanson, Michael A., Coughlin, Curtis R., Van Hove, Johan L. K.
Publié dans Ann Neurol (2016)

Gestational diabetes associated with a novel mutation (378–379insTT) in the glycerol kinase gene

par Zhang, Yao H., Van Hove, Johan L., McCabe, Edward R.B., Dipple, Katrina M.
Publié dans Mol Genet Metab Rep (2015)

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

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

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

par Kruszka, Paul S., Kirmse, Brian, Zand, Dina J., Cusmano-Ozog, Kristina, Spector, Elaine, Van Hove, Johan L., Chapman, Kimberly A.
Publié dans Mol Genet Metab Rep (2014)

Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder

par Bennett, Jennifer, Kerr, Marina, Greenway, Steven C., Friederich, Marisa W., Van Hove, Johan L.K., Hittel, Dustin, Khan, Aneal
Publié dans Mol Genet Metab Rep (2020)

Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease

par Newell, Christopher, Khan, Aneal, Sinasac, David, Shoffner, John, Friederich, Marisa W., Van Hove, Johan L.K., Hume, Stacey, Shearer, Jane, Sosova, Iveta
Publié dans Neurol Genet (2019)

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement

par Friederich, Marisa W., Perez, Francisco A., Knight, Kaz, Van Hove, Roxanne A., Yang, Samuel P., Saneto, Russell P., Van Hove, Johan L.K.
Publié dans Mol Genet Metab (2019)

EVALUATION OF THE CHILD WITH SUSPECTED MITOCHONDRIAL LIVER DISEASE

par Molleston, Jean P, Sokol, Ronald J, Karnsakul, Wikrom, Miethke, Alexander, Horslen, Simon, Magee, John C., Romero, René, Squires, Robert H., Van Hove, Johan LK
Publié 2013

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

par 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.
Publié dans Free Radic Biol Med (2016)

The mitochondrial DNA variant m.9032T>C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.

par Knight, Kaz M., Shelkowitz, Emily, Larson, Austin A., Mirsky, David M., Wang, Yue, Chen, Ting, Wong, Lee-Jun, Friederich, Marisa W., Van Hove, Johan L.K.
Publié dans Mitochondrion (2020)

The North American mitochondrial disease registry

par Rosales, Xiomara Q., Thompson, John L. P., Haas, Richard, Van Hove, Johan L. K., Karaa, Amel, Krotoski, Danuta, Engelstad, Kristin, Buchsbaum, Richard, DiMauro, Salvatore, Hirano, Michio
Publié dans J Transl Genet Genom (2020)

COQ2 nephropathy: A treatable cause of nephrotic syndrome in children

par 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
Publié dans Pediatr Nephrol (2018)

A novel acceptor stem variant in mitochondrial tRNA(Tyr) impairs mitochondrial translation and is associated with a severe phenotype

par Kripps, Kimberly A., Friederich, Marisa W., Chen, Ting, Larson, Austin A., Mirsky, David M., Wang, Yue, Tanji, Kurenai, Knight, Kaz M., Wong, Lee-Jun, Van Hove, Johan L.K.
Publié dans Mol Genet Metab (2020)

Pathogenic variants in MRPL44 causes infantile cardiomyopathy due to a mitochondrial translation defect

par Friederich, Marisa W., Geddes, Gabrielle C., Wortmann, Saskia B., Punnoose, Ann, Wartchow, Eric, Knight, Kaz M., Prokisch, Holger, Creadon-Swindell, Geralyn, Mayr, Johannes A., Van Hove, Johan L.K.
Publié dans Mol Genet Metab (2021)

A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes

par Kurt, Bulent, Jaeken, Jaak, Van Hove, Johan, Lagae, Lieven, Löfgren, Ann, Everman, David B., Jayakar, Parul, Naini, Ali, Wierenga, Klaas J., Van Goethem, Gert, Copeland, William C., DiMauro, Salvatore
Publié 2010

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

par 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.
Publié 2011

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

par Arnold, Georgianne L., VanHove, Johan, Freedenberg, Debra, Strauss, Arnold, Longo, Nicola, Burton, Barbara, Garganta, Cheryl, Ficicioglu, Can, Cederbaum, Stephen, Harding, Cary, Boles, Richard G., Matern, Dietrich, Chakraborty, Pranesh, Feigenbaum, Annette
Publié 2009

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

par 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.
Publié 2010

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

par 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
Publié 1995

MANAGEMENT OF A PATIENT WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

par Van Hove, Johan LK, Josefsberg, Sagi, Freehauf, Cynthia, Thomas, Janet A., Thuy, Le Phuc, Barshop, Bruce A., Woontner, Michael, Mock, Donald M, Chiang, Pei-Wen, Spector, Elaine, Meneses-Morales, Iván, Cervantes-Roldán, Rafael, León-Del-Río, Alfonso
Publié 2008