Works by Morava, Eva

Results: 153

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.

Published in:

Cellular & Molecular Life Sciences, 2025, v. 82, n. 1, p. 1, doi. 10.1007/s00018-025-05759-w

By:

Jáñez Pedrayes, Andrea;
De Craemer, Sam;
Idkowiak, Jakub;
Verdegem, Dries;
Thiel, Christian;
Barone, Rita;
Serrano, Mercedes;
Honzík, Tomáš;
Morava, Eva;
Vermeersch, Pieter;
Foulquier, François;
Morelle, Willy;
Swinnen, Johannes V.;
Rymen, Daisy;
Cassiman, David;
Ghesquière, Bart;
Witters, Peter

Publication type:

Article

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 670, doi. 10.1002/humu.20696

By:

Monnier, Nicole;
Marty, Isabelle;
Faure, Julien;
Castiglioni, Claudia;
Desnuelle, Claude;
Sacconi, Sabrina;
Estournet, Brigitte;
Ferreiro, Ana;
Romero, Norma;
Laquerriere, Annie;
Lazaro, Leila;
Martin, Jean-Jacques;
Morava, Eva;
Rossi, Annick;
Van der Kooi, Anneke;
de Visser, Marianne;
Verschuuren, Corien;
Lunardi, Joël

Publication type:

Article

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1160, doi. 10.1002/humu.9467

By:

Lonie, Lorne;
Porter, Daniel E.;
Fraser, Maria;
Cole, Trevor;
Wise, Carol;
Yates, Laura;
Wakeling, Emma;
Blair, Ed;
Morava, Eva;
Monaco, Anthony P.;
Ragoussis, Jiannis

Publication type:

Article

Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2155, doi. 10.1002/acn3.51470

By:

Hikmat, Omar;
Isohanni, Pirjo;
Keshavan, Nandaki;
Ferla, Matteo P.;
Fassone, Elisa;
Abbott, Mary‐Alice;
Bellusci, Marcello;
Darin, Niklas;
Dimmock, David;
Ghezzi, Daniele;
Houlden, Henry;
Invernizzi, Federica;
Kamarus Jaman, Nazreen B.;
Kurian, Manju A.;
Morava, Eva;
Naess, Karin;
Ortigoza‐Escobar, Juan Darío;
Parikh, Sumit;
Pennisi, Alessandra;
Barcia, Giulia

Publication type:

Article

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Published in:

Annals of Clinical & Translational Neurology, 2014, v. 1, n. 7, p. 462, doi. 10.1002/acn3.73

By:

Ferriero, Rosa;
Boutron, Audrey;
Brivet, Michele;
Kerr, Douglas;
Morava, Eva;
Rodenburg, Richard J.;
Bonafé, Luisa;
Baumgartner, Matthias R.;
Anikster, Yair;
Braverman, Nancy E.;
Brunetti‐Pierri, Nicola

Publication type:

Article

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

Published in:

2007

By:

De Vries, Maaike C.;
Rodenburg, Richard J.;
Morava, Eva;
Van Kaauwen, Edwin P. M.;
Ter Laak, Henk;
Mullaart, Reinier A.;
Snoeck, Irina N.;
Van Hasselt, Peter M.;
Harding, Peter;
Van den Heuvel, Lambert P. W.;
Smeitink, Jan A. M.

Publication type:

journal article

CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans.

Published in:

2006

By:

Albahri, Ziad;
Marklová, Eliška;
Dědek, Petr;
Hojdíková, Helena;
Fiedler, Zdeněk;
Lefeber, Dirk;
Wevers, Ron A;
Morava, Eva;
Wopereis, Suzan;
Marklová, Eliska;
Dedek, Petr;
Hojdíková, Helena;
Fiedler, Zdenek

Publication type:

journal article

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

Published in:

2004

By:

Morava, Eva;
Sengers, Rob;
Ter Laak, Henk;
Van den Heuvel, Lambert;
Janssen, Antoon;
Trijbels, Frans;
Cruysberg, Hans;
Boelen, Carolien;
Smeitink, Jan

Publication type:

journal article

Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

Published in:

European Journal of Pediatrics, 2002, v. 161, n. 11, p. 619, doi. 10.1007/s00431-002-0977-x

By:

Morava, Éva;
Kárteszi, Judit;
Weisenbach, János;
Caliebe, Almuth;
Mundlos, Stefan;
Méhes, Károly

Publication type:

Article

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.

Published in:

Genes, 2023, v. 14, n. 8, p. 1585, doi. 10.3390/genes14081585

By:

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

Publication type:

Article

Genotype-Phenotype Correlations in PMM2-CDG.

Published in:

Genes, 2021, v. 12, n. 11, p. 1658, doi. 10.3390/genes12111658

By:

Vaes, Laurien;
Rymen, Daisy;
Cassiman, David;
Ligezka, Anna;
Vanhoutvin, Nele;
Quelhas, Dulce;
Morava, Eva;
Witters, Peter

Publication type:

Article

A Review of Epigenetics of PTSD in Comorbid Psychiatric Conditions.

Published in:

Genes, 2019, v. 10, n. 2, p. 140, doi. 10.3390/genes10020140

By:

Blacker, Caren J.;
Frye, Mark A.;
Morava, Eva;
Kozicz, Tamas;
Veldic, Marin

Publication type:

Article

Reply to Leao-Teles et al.

Published in:

2010

By:

Morava, Eva;
Guillard, Maïlys;
Lefeber, Dirk J.;
Wevers, Ron A.

Publication type:

Letter

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 324, doi. 10.1038/ejhg.2009.169

By:

Smits, Paulien;
Mattijssen, Sandy;
Morava, Eva;
van den Brand, Mariël;
van den Brandt, Frans;
Wijburg, Frits;
Pruijn, Ger;
Smeitink, Jan;
Nijtmans, Leo;
Rodenburg, Richard;
van den Heuvel, Lambert

Publication type:

Article

Autosomal recessive cutis laxa syndrome revisited.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1099, doi. 10.1038/ejhg.2009.22

By:

Morava, Éva;
Guillard, Maïlys;
Lefeber, Dirk J.;
Wevers, Ron A.

Publication type:

Article

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

Published in:

2007

By:

Morava, Eva;
Zeevaert, Renate;
Korsch, Eckhard;
Huijben, Karin;
Wopereis, Suzan;
Matthijs, Gert;
Keymolen, Kathelijn;
Lefeber, Dirk J;
De Meirleir, Linda;
Wevers, Ron A

Publication type:

Correction Notice

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 6, p. 638, doi. 10.1038/sj.ejhg.5201813

By:

Morava, Eva;
Zeevaert, Renate;
Korsch, Eckhard;
Huijben, Karin;
Wopereis, Suzan;
Matthijs, Gert;
Keymolen, Kathelijn;
Lefeber, Dirk J.;
de Meirleir, Linda;
Wevers, Ron A.

Publication type:

Article

Defective protein glycosylation in patients with cutis laxa syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 414, doi. 10.1038/sj.ejhg.5201361

By:

Morava, Eva;
Wopereis, Suzan;
Coucke, Paul;
Gillessen-Kaesbach, Gabrielle;
Voit, Thomas;
Smeitink, Jan;
Wevers, Ron;
Grünewald, Stephanie

Publication type:

Article

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Published in:

Nature Genetics, 2008, v. 40, n. 1, p. 32, doi. 10.1038/ng.2007.45

By:

Kornak, Uwe;
Reynders, Ellen;
Dimopoulou, Aikaterini;
van Reeuwijk, Jeroen;
Fischer, Bjoern;
Rajab, Anna;
Budde, Birgit;
Nürnberg, Peter;
Foulquier, Francois;
Lefeber, Dirk;
Urban, Zsolt;
Gruenewald, Stephanie;
Annaert, Wim;
Brunner, Han G.;
van Bokhoven, Hans;
Wevers, Ron;
Morava, Eva;
Matthijs, Gert;
Van Maldergem, Lionel;
Mundlos, Stefan

Publication type:

Article

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

Published in:

Nature Genetics, 2007, v. 39, n. 1, p. 28, doi. 10.1038/ng1951

By:

Fischer, Judith;
Lefèvre, Caroline;
Morava, Eva;
Mussini, Jean-Marie;
Laforêt, Pascal;
Negre-Salvayre, Anne;
Lathrop, Mark;
Salvayre, Robert

Publication type:

Article

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Published in:

Nature Genetics, 2003, v. 33, n. 4, p. 487

By:

Robertson, Stephen P.;
Twigg, Stephen R.F.;
Sutherland-Smith, Andrew J.;
Biancalana, Valerie;
Gorlin, Robert J.;
Horn, Denise;
Kenwrick, Susan J.;
Kim, Chong A.;
Morava, Eva;
Newbury-Ecob, Ruth;
Orstavik, Karen H.;
Quarrell, Oliver W.J.;
Schwartz, Charles E.;
Shears, Deborah J.;
Suri, Mohnish;
Kendrick-Jones, John;
Bacino, C.;
Becker, K.;
Clayton-Smith, J.

Publication type:

Article

Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts.

Published in:

Proteomics, 2024, v. 24, n. 15, p. 1, doi. 10.1002/pmic.202400012

By:

Budhraja, Rohit;
Joshi, Neha;
Radenkovic, Silvia;
Kozicz, Tamas;
Morava, Eva;
Pandey, Akhilesh

Publication type:

Article

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).

Published in:

2013

By:

Kapusta, Livia;
Zucker, Nili;
Frenckel, George;
Medalion, Benjamin;
Gal, Tuvia Ben;
Birk, Einat;
Mandel, Hanna;
Nasser, Nadim;
Morgenstern, Sarah;
Zuckermann, Andreas;
Lefeber, Dirk J;
de Brouwer, Arjen;
Wevers, Ron A;
Lorber, Avraham;
Morava, Eva;
Ben Gal, Tuvia

Publication type:

journal article

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).

Published in:

Heart Failure Reviews, 2013, v. 18, n. 2, p. 187, doi. 10.1007/s10741-012-9302-6

By:

Kapusta, Livia;
Zucker, Nili;
Frenckel, George;
Medalion, Benjamin;
Gal, Tuvia;
Birk, Einat;
Mandel, Hanna;
Nasser, Nadim;
Morgenstern, Sarah;
Zuckermann, Andreas;
Lefeber, Dirk;
Brouwer, Arjen;
Wevers, Ron;
Lorber, Avraham;
Morava, Eva

Publication type:

Article

Early-adolescent antibiotic exposure results in mitochondrial and behavioral deficits in adult male mice.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-92203-1

By:

Tengeler, Anouk C.;
Emmerzaal, Tim L.;
Geenen, Bram;
Verweij, Vivienne;
van Bodegom, Miranda;
Morava, Eva;
Kiliaan, Amanda J.;
Kozicz, Tamas

Publication type:

Article

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc- Man2-GlcNAc2) as a specific diagnostic biomarker.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1363558

By:

Duncker, Ivan Martínez;
Mata-Salgado, Denisse;
Shammas, Ibrahim;
Ranatunga, Wasantha;
Daniel, Earnest James Paul;
Muñoz, Mario E. Cruz;
Abreu, Melania;
Mora-Montes, Héctor;
He, Miao;
Morava, Eva;
de la Rosa, Gildardo Zafra

Publication type:

Article

Identification of Novel Translational Urinary Biomarkers for Acetaminophen-Induced Acute Liver Injury Using Proteomic Profiling in Mice.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049524

By:

van Swelm, Rachel P. L.;
Laarakkers, Coby M. M.;
van der Kuur, Ellen C.;
Morava-Kozicz, Eva;
Wevers, Ron A.;
Augustijn, Kevin D.;
Touw, Daan J.;
Sandel, Maro H.;
Masereeuw, Rosalinde;
Russel, Frans G. M.

Publication type:

Article

Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report.

Published in:

BMC Rheumatology, 2022, v. 6, n. 1, p. 1, doi. 10.1186/s41927-022-00281-z

By:

Wilke, Matheus V. M. B.;
Morava-Kozicz, Eva;
Koster, Matthew J.;
Schmitz, Christopher T.;
Foster, Shannon Kaye;
Patnaik, Mrinal;
Warrington, Kenneth J.;
Klee, Eric W.;
Pinto e Vairo, Filippo

Publication type:

Article

Mitochondrial Etiology of Psychiatric Disorders: Is This the Full Story?

Published in:

2018

By:

Kozicz, Tamas;
Schene, Aart;
Morava, Eva

Publication type:

Letter

Wrinkled Skin and Fat Pads in Patients with ALG8-CDG: Revisiting Skin Manifestations in Congenital Disorders of Glycosylation.

Published in:

Pediatric Dermatology, 2014, v. 31, n. 1, p. e1, doi. 10.1111/pde.12233

By:

Kouwenberg, Dorus;
Gardeitchik, Thatjana;
Mohamed, Miski;
Lefeber, Dirk J.;
Morava, Eva

Publication type:

Article

Aerobic exercise in children with oxidative phosphorylation defects.

Published in:

Neurology International, 2010, v. 2, n. 1, p. 20, doi. 10.4081/ni.2010.e4

By:

Schreuder, Luuk;
Peters, Gera;
der Sanden, Ria Nijhuis-van;
Morava, Eva

Publication type:

Article

Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria.

Published in:

Annals of Clinical Biochemistry, 2003, v. 40, n. 1, p. 108, doi. 10.1258/000456303321016268

By:

Morava, Eva;
Kosztolányi, György;
Engelke, Udo F. H.;
Wevers, Ron A.

Publication type:

Article

Case Report of Friedreich's Ataxia and ALG1‐Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63890

By:

Quinlan, Aisling;
Rodan, Lance;
Barkoudah, Elizabeth;
Tam, Amy;
Saffari, Afshin;
Shammas, Ibrahim;
Ranatunga, Wasantha;
Morava‐Kozicz, Eva;
Oglesbee, Devin;
Berry, Gerald;
Ebrahimi‐Fakhari, Darius;
Srivastava, Siddharth

Publication type:

Article

Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2428, doi. 10.1002/ajmg.a.63340

By:

Kárteszi, Judit;
Ziegler, Alban;
Tihanyi, Mariann;
Elmont, Beatrix;
Zhang, Yuebo;
Patócs, Barbara;
Molnár, Mária Judit;
Méhes, Gábor;
Wells, Kirsty;
Jakus, Rita;
Bessenyei, Beáta;
Ranatunga, Wasantha;
Morava, Éva

Publication type:

Article

Long‐term outcomes in ALG13‐Congenital Disorder of Glycosylation.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1626, doi. 10.1002/ajmg.a.63179

By:

Shah, Rameen;
Johnsen, Christin;
Pletcher, Beth A.;
Edmondson, Andrew C.;
Kozicz, Tamas;
Morava, Eva

Publication type:

Article

A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2438, doi. 10.1002/ajmg.a.62859

By:

Geiculescu, Irina;
Dranove, Jason;
Cosper, Graham;
Edmondson, Andrew C.;
Morava‐Kozicz, Eva;
Carter, Lauren B.

Publication type:

Article

Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1‐congenital disorder of glycosylation) and response to l‐fucose therapy: Insights from two new families and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2005, doi. 10.1002/ajmg.a.62737

By:

Tahata, Shawn;
Raymond, Kimiyo;
Quade, Marie;
Barnes, Sara;
Boyer, Suzanne;
League, Stacy;
Kumanovics, Attila;
Abraham, Roshini;
Jacob, Eapen;
Menon, Prem;
Morava, Eva

Publication type:

Article

Growth hormone deficiency in a child with branchio‐oto‐renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 261, doi. 10.1002/ajmg.a.61942

By:

Muthusamy, Karthik;
Hanna, Christian;
Johnson, Derek R.;
Cramer, Carl H.;
Tebben, Peter J.;
Libi, Sharon E.;
Poling, Gayla L.;
Lanpher, Brendan C.;
Morava, Eva;
Schimmenti, Lisa A.

Publication type:

Article

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2772, doi. 10.1002/ajmg.a.38377

By:

Gadomski, Therese E.;
Bolton, Melody;
Alfadhel, Majid;
Dvorak, Chris;
Ogunsakin, Olalekan A.;
Nelson, Stephen L.;
Morava, Eva

Publication type:

Article

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1739, doi. 10.1002/ajmg.a.38267

By:

Wade, Emma M.;
Jenkins, Zandra A.;
Daniel, Philip B.;
Morgan, Tim;
Addor, Marie C.;
Adés, Lesley C.;
Bertola, Debora;
Bohring, Axel;
Carter, Erin;
Cho, Tae‐Joon;
de Geus, Christa M.;
Duba, Hans‐Christoph;
Fletcher, Elaine;
Hadzsiev, Kinga;
Hennekam, Raoul C. M.;
Kim, Chong A.;
Krakow, Deborah;
Morava, Eva;
Neuhann, Teresa;
Sillence, David

Publication type:

Article

Three families with mild PMM2-CDG and normal cognitive development.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1620, doi. 10.1002/ajmg.a.38235

By:

Vals, Mari‐Anne;
Morava, Eva;
Teeäär, Kai;
Zordania, Riina;
Pajusalu, Sander;
Lefeber, Dirk J.;
Õunap, Katrin

Publication type:

Article

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1642, doi. 10.1002/ajmg.a.37628

By:

Witters, Peter;
Régal, Luc;
Waterham, Hans R.;
De Meirleir, Linda;
Wanders, Ronald J. A.;
Morava, Eva

Publication type:

Article

Erratum to perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet Part A 161A: 578-584.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1618, doi. 10.1002/ajmg.a.36518

By:

Funke, Simone;
Gardeitchik, Thatjana;
Kouwenberg, Dorus;
Mohamed, Miski;
Wortmann, Saskia;
Korsch, Eckhard;
Adamovicz, Maciej;
Al‐Gazali, Lihadh;
Wevers, Ron A.;
Horvath, Adrien;
Lefeber, Dirk J.;
Morava, Eva

Publication type:

Article

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1049, doi. 10.1002/ajmg.a.36392

By:

Van Asbeck, Ellyze;
Wolthuis, David F.G.J.;
Mohamed, Miski;
Wevers, Ron A.;
Korenke, Cristoph G.;
Gardeitchik, Thatjana;
Morava, Eva

Publication type:

Article

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 578, doi. 10.1002/ajmg.a.35702

By:

Funke, Simone;
Gardeitchik, Thatjana;
Kouwenberg, Dorus;
Mohamed, Miski;
Wortmann, Saskia B.;
Korsch, Eckhard;
Adamowicz, Maciej;
Al‐Gazali, Lihadh;
Wevers, Ron A.;
Horvath, Adrienne;
Lefeber, Dirk J.;
Morava, Éva

Publication type:

Article

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 927, doi. 10.1002/ajmg.a.35231

By:

Zampatti, Stefania;
Castori, Marco;
Fischer, Bjoern;
Ferrari, Paola;
Garavelli, Livia;
Dionisi-Vici, Carlo;
Agolini, Emanuele;
Wischmeijer, Anita;
Morava, Eva;
Novelli, Giuseppe;
Häberle, Johannes;
Kornak, Uwe;
Brancati, Francesco

Publication type:

Article

Galactose epimerase deficiency: lessons from the GalNet registry.

Published in:

2022

By:

Derks, Britt;
Demirbas, Didem;
Arantes, Rodrigo R.;
Banford, Samantha;
Burlina, Alberto B.;
Cabrera, Analía;
Chiesa, Ana;
Couce, M. Luz;
Dionisi-Vici, Carlo;
Gautschi, Matthias;
Grünewald, Stephanie;
Morava, Eva;
Möslinger, Dorothea;
Scholl-Bürgi, Sabine;
Skouma, Anastasia;
Stepien, Karolina M.;
Timson, David J.;
Berry, Gerard T.;
Rubio-Gozalbo, M. Estela

Publication type:

journal article

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 11, p. 3210, doi. 10.1093/brain/awq261

By:

Morava, Eva;
Wevers, Ron A.;
Cantagrel, Vincent;
Hoefsloot, Lies H.;
Al-Gazali, Lihadh;
Schoots, Jeroen;
Rooij, Arno van;
Huijben, Karin;
Ravenswaaij-Arts, Connie M. A. van;
Jongmans, Marjolein C. J.;
Sykut-Cegielska, Jolanta;
Hoffmann, Georg F.;
Bluemel, Peter;
Adamowicz, Maciej;
Reeuwijk, Jeroen van;
Ng, Bobby G.;
Bergman, Jorieke E. H.;
Bokhoven, Hans van;
Körner, Christian;
Babovic-Vuksanovic, Dusica

Publication type:

Article

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 136, doi. 10.1093/brain/awn296

By:

Saskia B. Wortmann;
Richard J. T. Rodenburg;
An Jonckheere;
Maaike C. de Vries;
Marjan Huizing;
Katrin Heldt;
Lambert P. van den Heuvel;
Udo Wendel;
Leo A. Kluijtmans;
Udo F. Engelke;
Ron A. Wevers;
Jan A. M. Smeitink;
Eva Morava

Publication type:

Article

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Published in:

Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 862, doi. 10.1093/brain/awl389

By:

Rosalba Carrozzo;
Carlo Dionisi-Vici;
Ulrike Steuerwald;
Simona Lucioli;
Federica Deodato;
Sivia Di Giandomenico;
Enrico Bertini;
Barbara Franke;
Leo A. J. Kluijtmans;
Maria Chiara Meschini;
Cristiano Rizzo;
Fiorella Piemonte;
Richard Rodenburg;
René Santer;
Filippo M. Santorelli;
Arno van Rooij;
Diana Vermunt-de Koning;
Eva Morava;
Ron A. Wevers

Publication type:

Article