Works matching AU 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

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

Published in:

Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 811, doi. 10.1007/s10545-007-0546-6

By:

Heil, Sandra;
Hogeveen, Marije;
Kluijtmans, Leo;
Dijken, P.;
Berg, Gerard;
Blom, Henk;
Morava, Eva

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

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.

Published in:

Glycobiology, 2005, v. 15, n. 12, p. 1312, doi. 10.1093/glycob/cwj017

By:

Suzan Wopereis;
Éva Morava;
Stephanie Grünewald;
Maciej Adamowicz;
Karin M. L. C. Huijben;
Dirk J. Lefeber;
Ron A. Wevers

Publication type:

Article

Fulminant Wilson Disease in Children: Recovery After Plasma Exchange Without Transplantation.

Published in:

2020

By:

Proost, Renee;
Cassiman, David;
Levtchenko, Elena;
Morava-Kozicz, Eva;
Neirynck, Jef;
Witters, Peter

Publication type:

journal article

Sperm Antioxidant Biomarkers and Their Correlation with Clinical Condition and Lifestyle with Regard to Male Reproductive Potential.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 6, p. 1785, doi. 10.3390/jcm9061785

By:

Krzyściak, Wirginia;
Papież, Monika;
Bąk, Ewelina;
Morava, Eva;
Krzyściak, Paweł;
Ligęzka, Anna;
Gniadek, Agnieszka;
Vyhouskaya, Palina;
Janeczko, Jarosław

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

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Published in:

2021

By:

Starosta, Rodrigo Tzovenos;
Boyer, Suzanne;
Tahata, Shawn;
Raymond, Kimiyo;
Lee, Hee Eun;
Wolfe, Lynne A.;
Lam, Christina;
Edmondson, Andrew C.;
Schwartz, Ida Vanessa Doederlein;
Morava, Eva

Publication type:

journal article

Is X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy a congenital disorder of glycosylation?

Published in:

Epilepsia (Series 4), 2021, v. 62, n. 2, p. 335, doi. 10.1111/epi.16817

By:

Berry, Gerard T.;
Freeze, Hudson H.;
Morava, Eva

Publication type:

Article

A Participatory Framework for Plain Language Clinical Management Guideline Development.

Published in:

International Journal of Environmental Research & Public Health, 2022, v. 19, n. 20, p. 13506, doi. 10.3390/ijerph192013506

By:

Francisco, Rita;
Alves, Susana;
Gomes, Catarina;
Granjo, Pedro;
Pascoal, Carlota;
Brasil, Sandra;
Neves, Alice;
Santos, Inês;
Miller, Andrea;
Krasnewich, Donna;
Morava, Eva;
Lam, Christina;
Jaeken, Jaak;
Videira, Paula A.;
dos Reis Ferreira, Vanessa

Publication type:

Article

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II.

Published in:

Clinical Chemistry, 2011, v. 57, n. 4, p. 593, doi. 10.1373/clinchem.2010.153635

By:

Guillard, Maïlys;
Morava, Eva;
van Delft, Floris L.;
Hague, Rosie;
Körner, Christian;
Adamowicz, Maciej;
Wevers, Ron A.;
Lefeber, Dirk J.

Publication type:

Article

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.

Published in:

NMR in Biomedicine, 2009, v. 22, n. 5, p. 538, doi. 10.1002/nbm.1367

By:

Engelke, Udo F. H.;
Tassini, Maria;
Hayek, Joseph;
de Vries, Maaike;
Bilos, Appie;
Vivi, Antonio;
Valensin, Gianni;
Buoni, Sabrina;
Zannolli, Raffaella;
Brussel, Wim;
Kremer, Berry;
Salomons, Gajja S.;
Veendrick-Meekes, Monique J. B. M.;
Kluijtmans, Leo A. J.;
Morava, Éva;
Wevers, Ron A.

Publication type:

Article

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.

Published in:

NMR in Biomedicine, 2006, v. 19, n. 2, p. 271, doi. 10.1002/nbm.1018

By:

Engelke, Udo F. H.;
Kremer, Berry;
Kluijtmans, Leo A. J.;
van der Graaf, Marinette;
Morava, Eva;
Loupatty, Ference J.;
Wanders, Ronald J. A.;
Moskau, Detlef;
Loss, Sandra;
van den Bergh, Erik;
Wevers, Ron A.

Publication type:

Article

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.

Published in:

Cells (2073-4409), 2025, v. 14, n. 9, p. 638, doi. 10.3390/cells14090638

By:

Radenkovic, Silvia;
Adant, Isabelle;
Bird, Matthew J.;
Swinnen, Johannes V.;
Cassiman, David;
Kozicz, Tamas;
Gruenert, Sarah C.;
Ghesquière, Bart;
Morava, Eva

Publication type:

Article

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1051, doi. 10.1038/ejhg.2014.239

By:

Barthélémy, Florian;
Navarro, Claire;
Fayek, Racha;
Da Silva, Nathalie;
Roll, Patrice;
Sigaudy, Sabine;
Oshima, Junko;
Bonne, Gisèle;
Papadopoulou-Legbelou, Kyriaki;
Evangeliou, Athanasios E;
Spilioti, Martha;
Lemerrer, Martine;
Wevers, Ron A;
Morava, Eva;
Robaglia-Schlupp, Andrée;
Lévy, Nicolas;
Bartoli, Marc;
De Sandre-Giovannoli, Annachiara

Publication type:

Article

Symptomatic lipid storage in carriers for the PNPLA2 gene.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 807, doi. 10.1038/ejhg.2012.256

By:

Janssen, Mirian C H;
van Engelen, Baziel;
Kapusta, Livia;
Lammens, Martin;
van Dijk, Martin;
Fischer, Judith;
van der Graaf, Marinette;
Wevers, Ron A;
Fahrleitner, Manuela;
Zimmermann, Robert;
Morava, Eva

Publication type:

Article

Symptomatic lipid storage in carriers for the PNPLA2 gene.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.11

By:

Janssen, Mirian C H;
van Engelen, Baziel;
Kapusta, Livia;
Lammens, Martin;
van Dijk, Martin;
Fischer, Judith;
van der Graaf, Marinette;
Wevers, Ron A;
Fahrleitner, Manuela;
Zimmermann, Robert;
Morava, Eva

Publication type:

Article

Normal glycosylation screening does not rule out SRD5A3-CDG.

Published in:

2011

By:

Mohamed, Miski;
Cantagrel, Vincent;
Al-Gazali, Lihadh;
Wevers, Ron A;
Lefeber, Dirk J;
Morava, Eva

Publication type:

Letter

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 2, p. 138, doi. 10.1038/ejhg.2010.171

By:

Kleefstra, Tjitske;
Wortmann, Saskia B;
Rodenburg, Richard J. T.;
Bongers, Ernie M. H. F.;
Hadzsiev, Kinga;
Noordam, Cees;
Van den Heuvel, Lambert P.;
Nillesen, Willy M.;
Hollody, Katalin;
Gillessen-Kaesbach, Gabrielle;
Lammens, Martin;
Smeitink, Jan A. M.;
Van der Burgt, Ineke;
Morava, Eva

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

Congenital disorders of glycosylation: narration of a story through its patents.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02852-w

By:

Monticelli, Maria;
D'Onofrio, Tania;
Jaeken, Jaak;
Morava, Eva;
Andreotti, Giuseppina;
Cubellis, Maria Vittoria

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

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation.

Published in:

PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002427

By:

Lefeber, Dirk J.;
de Brouwer, Arjan P. M.;
Morava, Eva;
Riemersma, Moniek;
Schuurs-Hoeijmakers, Janneke H. M.;
Absmanner, Birgit;
Verrijp, Kiek;
den Akker, Willem M. R. van;
Huijben, Karin;
Steenbergen, Gerry;
van Reeuwijk, Jeroen;
Jozwiak, Adam;
Zucker, Nili;
Lorber, Avraham;
Lammens, Martin;
Knopf, Carlos;
van Bokhoven, Hans;
Grünewald, Stephanie;
Lehle, Ludwig;
Kapusta, Livia

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

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice.

Published in:

Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0858-y

By:

Emmerzaal, Tim L.;
Preston, Graeme;
Geenen, Bram;
Verweij, Vivienne;
Wiesmann, Maximilian;
Vasileiou, Elisavet;
Grüter, Femke;
de Groot, Corné;
Schoorl, Jeroen;
de Veer, Renske;
Roelofs, Monica;
Arts, Martijn;
Hendriksen, Yara;
Klimars, Eva;
Donti, Taraka R.;
Graham, Brett H.;
Morava, Eva;
Rodenburg, Richard J.;
Kozicz, Tamas

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

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

CDG Therapies: From Bench to Bedside.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 5, p. 1304, doi. 10.3390/ijms19051304

By:

Brasil, Sandra;
Pascoal, Carlota;
Francisco, Rita;
Marques-da-Silva, Dorinda;
Andreotti, Giuseppina;
Videira, Paula A.;
Morava, Eva;
Jaeken, Jaak;
dos Reis Ferreira, Vanessa

Publication type:

Article

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 635, doi. 10.3390/ijms18030635

By:

Kariminejad, Ariana;
Afroozan, Fariba;
Bozorgmehr, Bita;
Ghanadan, Alireza;
Akbaroghli, Susan;
Khorshid, Hamid Reza Khorram;
Mojahedi, Faezeh;
Setoodeh, Aria;
Loh, Abigail;
Yu Xuan Tan;
Escande-Beillard, Nathalie;
Malfait, Fransiska;
Reversade, Bruno;
Gardeitchik, Thatjana;
Morava, Eva

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

Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.

Published in:

Therapeutic Advances in Rare Disease, 2023, v. 4, p. 1, doi. 10.1177/26330040221150269

By:

Radenkovic, Silvia;
Johnsen, Christin;
Schulze, Andreas;
Lail, Gurnoor;
Guilder, Laura;
Schwartz, Kaitlin;
Schultz, Matthew;
Mercimek-Andrews, Saadet;
Boyer, Suzanne;
Morava, Eva

Publication type:

Article

Mannose treatment improves immune deficiency in mannose phosphate isomerase--congenital disorder of glycosylation: case report and review of literature.

Published in:

Therapeutic Advances in Rare Disease, 2022, v. 3, p. 1, doi. 10.1177/26330040211091283

By:

derik De Graef, Die;
Mousa, Jehan;
Waberski, Marta Biderman;
Morava, Eva

Publication type:

Article

Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.

Published in:

Birth Defects Research, 2017, v. 109, n. 10, p. 791, doi. 10.1002/bdr2.1049

By:

Boer, Lucas L.;
Morava, Eva;
Klein, Willemijn M.;
Schepens-Franke, Annelieke N.;
Oostra, Roelof Jan

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

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.663643

By:

Bayat, Allan;
Pendziwiat, Manuela;
Obersztyn, Ewa;
Goldenberg, Paula;
Zacher, Pia;
Döring, Jan Henje;
Syrbe, Steffen;
Begtrup, Amber;
Borovikov, Artem;
Sharkov, Artem;
Karasińska, Aneta;
Giżewska, Maria;
Mitchell, Wendy;
Morava, Eva;
Møller, Rikke S.;
Rubboli, Guido

Publication type:

Article

Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome.

Published in:

Clinical Genetics, 1996, v. 49, n. 4, p. 211, doi. 10.1111/j.1399-0004.1996.tb03289.x

By:

Morava, Eva;
Adamovich, K.;
Czeizel, A. E.

Publication type:

Article

Heterogenitatea neurologică la pacienții suspecți pentru tulburările congenitale ale glicozilării din Republica Moldova.

Published in:

Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2024, v. 30, n. 3, p. 39

By:

Blăniţă, Daniela;
Boiciuc, Chiril;
Stamati, Adela;
Hadjiu, Svetlana;
Țurea, Valentin;
Sacara, Victoria;
Deleanu, Călin;
Morava, Eva;
Ușurelu, Natalia

Publication type:

Article

Maladiile neurologice sub masca tulburărilor congenitale ale glicozilării.

Published in:

Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2023, v. 29, n. 3, p. 31

By:

Blăniţă, Daniela;
Stamati, Adela;
Hadjiu, Svetlana;
Țurea, Valentin;
Morava, Eva;
Uşurelu, Natalia

Publication type:

Article