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Author/Creator Morava, Eva

71. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. Issue 4 (10th October 2012)

Authors:
Zulfiqar, Maria; Lin, Doris D.M.; Van der Graaf, Marinette; Barker, Peter B.; Fahrner, Jill A.; Marie, Sandrine; Morava, Eva; De Boer, Lonneke; Willemsen, Michel A.A.P.; Vining, Eileen; Horská, Alena; Engelke, Udo; Wevers, Ron A.; Maegawa, Gustavo H.B.
Journal:
Journal of magnetic resonance imaging
Issue:
Volume 37:Issue 4(2013)
Page Start:
974
Record Type:
Journal Article
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73. N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1‐deficient patient‐derived dermal fibroblasts. Issue 1 (4th October 2022)

Authors:
Budhraja, Rohit; Saraswat, Mayank; De Graef, Diederik; Ranatunga, Wasantha; Ramarajan, Madan G.; Mousa, Jehan; Kozicz, Tamas; Pandey, Akhilesh; Morava, Eva
Journal:
Journal of inherited metabolic disease
Issue:
Volume 46:Issue 1(2023)
Page Start:
76
Record Type:
Journal Article
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75. Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. (19th June 2014)

Authors:
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
Journal:
Annals of clinical and translational neurology
Issue:
Volume 1:Number 7(2014)
Page Start:
462
Record Type:
Journal Article
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76. Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. Issue 1 (December 2016)

Authors:
Hollak, Carla; Biegstraaten, Marieke; Baumgartner, Matthias; Belmatoug, Nadia; Bembi, Bruno; Bosch, Annet; Brouwers, Martijn; Dekker, Hanka; Dobbelaere, Dries; Engelen, Marc; Groenendijk, Marike; Lachmann, Robin; Langendonk, Janneke; Langeveld, Mirjam; Linthorst, Gabor; Morava, Eva; Poll-The, Bwe...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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78. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. Issue 6 (5th August 2020)

Authors:
Ng, Bobby G.; Eklund, Erik A.; Shiryaev, Sergey A.; Dong, Yin Y.; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J.; Barr, Eileen; Bernstein, Jonathan A.; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K.; Ciliberto, Michael A.; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Gra...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1333
Record Type:
Journal Article
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79. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Issue 6 (20th December 2017)

Authors:
Maas, Roeltje R.; Iwanicka‐Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al‐Owain, Mohammed A.; Al‐Zaidan, Hamad I.; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; F...
Journal:
Annals of neurology
Issue:
Volume 82:Issue 6(2017)
Page Start:
1004
Record Type:
Journal Article
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80. Propeptide glycosylation and galectin‐3 binding decrease proteolytic activation of human proMMP‐9/progelatinase B. (30th November 2018)

Authors:
Boon, Lise; Ugarte‐Berzal, Estefania; Martens, Erik; Vandooren, Jennifer; Rybakin, Vasily; Colau, Didier; Gordon‐Alonso, Monica; van der Bruggen, Pierre; Stöcker, Walter; Becker‐Pauly, Christoph; Witters, Peter; Morava, Eva; Jaeken, Jaak; Proost, Paul; Opdenakker, Ghislain
Journal:
FEBS journal
Issue:
Volume 286:Number 5(2019)
Page Start:
930
Record Type:
Journal Article
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