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M

Mirian C. H. Janssen

radboud university medical centre

41H-index
246Paper Count
5.8KCitation Count
Published Papers 108
Publication Date
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Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases
errJournal of Inherited Metabolic Disease
IF3.8
err2025-11-09
err0
errOAAI
errEllen M. Hulshof; Hugo P. Lantinga; Gonnie Alkemade; Annet M. Bosch; Marion M. Brands; Danique Draaisma-van Vliet; Andrea B. Haijer-Schreuder; Eva M. M. Hoytema van Konijnenburg; Mirian C. H. Janssen; Melanie M. van der Klauw; Mirjam Langeveld; Charlotte M. A. Lubout; Sonja L. van Ockenburg; Esmeralda Oussoren; Bianca Panis; Barbara Sjouke; Maaike de Vries; Margreet A. E. M. Wagenmakers; Mark Wijnen; Deborah A. Sival; Marina A. J. Tijssen; Tom J. de Koning; Lisette H. Koens
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Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study
errMolecular Genetics and Metabolism
IF3.5
err2025-07-21
err0
errOAAI
errSebastian Roesch; Anna O'Sullivan; Stefan Tschani; Anna Baghdasaryan; Shanti Balasubramaniam; Ivo Barić; Lonneke de Boer; Sarah C. Grünert; Anna Guzek; Mirian Janssen; Zita Krumina; Mary Kay Koenig; Ashleigh M. Lewkowitz; Fanny Mochel; Arianne Monge Naldi; Barbara Plecko; Kerem Öztürk; Lauren O'Grady; Gillian Riordan; Daisy Rymen; Inderneel Sahai; René Santer; Manuel Schiff; Georg M. Stettner; Konstantinos Tsiakas; Sema Kalkan Uçar; Özlem Ünal Uzun; Corina Weigel; Peter Witters; Kajus Merkevicius; Johannes A. Mayr; Saskia B. Wortmann; Katarzyna Iwanicka-Pronicka
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Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-05-01
err0
PREAI
errVerberkmoes, Sanne; Mazza, Gina L.; Edmondson, Andrew C.; Scaglia, Fernando; Horikoshi, Seishu; Kuschel, Bryce; Janssen, Mirian C. H.; Mousa, Jehan; Larson, Austin; Shah, Rameen; Mcdonald, Georgia; Sarafoglou, Kyriaki; Berry, Gerard; Kozicz, Tamas; Lam, Christina; Morava, Eva
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Should we be careful with exercise in post-exertional malaise after long COVID?
errNATURE COMMUNICATIONS
IF15.7
err2025-02-18
err0
errOAAI
errChristiaan G. J. Saris; Baziel G. M. van Engelen; Mirian C. H. Janssen; Benno Kusters; Richard J. T. Rodenburg; David E. Sluijs; Nicoline B. M. Voet
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The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group
errJOURNAL OF INHERITED METABOLIC DISEASE
IF3.8
err2025-02-06
err0
PREAI
errTchan, Michel; Lehman, Anna; van Dussen, Laura; Langendonk, Janneke G.; Janssen, Mirian C. H.; Langeveld, Mirjam; Murphy, Elaine; Ryder, Bryony; Glamuzina, Emma; Merkel, Martin; Sechi, Annalisa; Arnoux, Jean-Baptiste; Mochel, Fanny; Alkemade, Gonnie; Maillot, Francois; Kaphan, Elsa; Mazodier, Karin; Thomas, Quentin; Leguy-Seguin, Vanessa; Marelli, Cecilia
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Vaccine safety in children with genetically confirmed mitochondrial disease
errIMMUNOLOGY LETTERS
IF2.8
err2025-02-01
err0
PREAI
errde Vreugd, Annemarie; Zimmermann, Franz A.; Steinbruecker, Katja; de Vries, Maaike C.; de Boer, Lonneke; Janssen, Mirian C. H.; Huemer, Martina; Wortmann, Saskia B.
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Ketogenic diet in adult patients with mitochondrial myopathy
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-12-01
err1
PREAI
errZweers, Heidi E. E.; Kroesen, Sophie H.; Beerlink, Gijsje; Buit, Elke; Gerrits, Karlijn; Dorhout, Astrid; van Wegberg, Annemiek M. J.; Janssen, Mirian C. H.; Wortmann, Saskia B.; Timmers, Silvie; Saris, Christiaan G. J.
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Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation
errBRAIN
IF11.7
err2024-11-06
err0
errOAAI
errSmeitink, Jan; van Es, Just; Bosman, Brigitte; Janssen, Mirian C. H.; Klopstock, Thomas; Gorman, Grainne; Vissing, John; Ruiterkamp, Gerrit; Edgar, Chris J.; Abbink, Evertine J.; van Maanen, Rob; Pogoryelova, Oksana; Stendel, Claudia; Bischoff, Almut; Karin, Ivan; Munshi, Mahtab; Kummel, Anne; Burgert, Lydia; Verhaak, Christianne; Renkema, Herma
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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
errHUMAN MUTATION
IF3.7
err2024-10-03
err0
errOAAI
errPajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; Mcwilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Ounap, Katrin
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Whole-body Ndufs4 knockout mice with isolated complex I deficiency engage a futile adaptive brain response
errBIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
IF2.7
err2024-09-01
err0
PREAI
errvan de Wal, Melissa A. E.; Doornbos, Cenna; Bibbe, Janne; Homberg, Judith R.; van Karnebeek, Clara; Huijnen, Martijn; Keijer, Jaap; van Schothorst, Evert M.; T Hoen, Peter A. C. '; Janssen, Mirian C. H.; Adjobo-Hermans, Merel J. W.; Wieckowski, Mariusz R.; Koopman, Werner J. H.
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Dysarthria and dysphagia in patients with mitochondrial diseases
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-07-01
err1
errOAAI
errKuin, R. E. M.; Groothuis, J. T.; Buit, P.; Janssen, M. C. H.; Knuijt, S.
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errSave
Social cognition, emotion regulation and social competence in classical galactosemia patients without intellectual disability
errACTA NEUROPSYCHIATRICA
IF2.5
err2024-01-05
err1
errOAAI
errHermans, Merel E.; Geurtsen, Gert J.; Hollak, Carla E. M.; Janssen, Mirian C. H.; Langendonk, Janneke G.; Merckelbach, Valerie L. V.; Oussoren, Esmee; Oostrom, Kim J.; Bosch, Annet M.
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LAMA2-Related Muscular Dystrophy Across the Life Span
errNEUROLOGY-GENETICS
IF3.7
err2023-10-01
err14
errOAAI
errBouman, Karlijn; Groothuis, Jan T.; Doorduin, Jonne; van Alfen, Nens; ten Cate, Floris E. A. Udink; van den Heuvel, Frederik M. A.; Nijveldt, Robin; Kamsteeg, Erik-Jan; Dittrich, Anne T. M.; Draaisma, Jos M. T.; Janssen, Mirian C. H.; van Engelen, Baziel G. M.; Erasmus, Corrie E.; Voermans, Nicol C.
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SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2023-09-30
err7
errOAAI
errBouman, Karlijn; Groothuis, Jan T.; Doorduin, Jonne; van Alfen, Nens; ten Cate, Floris E. A. Udink; van den Heuvel, Frederik M. A.; Nijveldt, Robin; Kamsteeg, Erik-Jan; Dittrich, Anne T. M.; Draaisma, Jos M. T.; Janssen, Mirian C. H.; van Engelen, Baziel G. M.; Erasmus, Corrie E.; Voermans, Nicol C.
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Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2023-09-08
err2
errOAAI
errMiddelink, Marloes; Voermans, Nicol C.; van Engelen, Baziel G. M.; Janssen, Mirian C. H.; Groothuis, Jan T.; Knuijt, Simone; Zweers-van Essen, Heidi
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Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-07-24
err3
errOAAI
errCrefcoeur, Loek; Ferdinandusse, Sacha; van der Crabben, Saskia N.; Dekkers, Eugenie; Fuchs, Sabine A.; Huidekoper, Hidde; Janssen, Mirian; Langendonk, Janneke; Maase, Rose; de Sain, Monique; Rubio, Estela; van Spronsen, Francjan J.; Vaz, Frederic Maxime; Verschoof, Rendelien; de Vries, Maaike; Wijburg, Frits; Visser, Gepke; Langeveld, Mirjam
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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
errNEUROLOGY
IF8.5
err2022-12-06
err10
errOAAI
errCoughlin, Curtis A.; Tseng, Laura A.; Bok, Levinus; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L. K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C. H.; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N.; Lamb, Molly M.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; van Karnebeek, Clara
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Bone Quality in Patients with a Congenital Myopathy: A Scoping Review
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2022-10-28
err5
errOAAI
errBouman, Karlijn; Dittrich, Anne T. M.; Groothuis, Jan T.; van Engelen, Baziel G. M.; Janssen, Mirian C. H.; Voermans, Nicol C.; Draaisma, Jos M. T.; Erasmus, Corrie E.
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Reply to 'Blood pressure regulation is multifactorial in mitochondrial disorders'
errJOURNAL OF HYPERTENSION
IF4.1
err2022-10-01
err0
PREAI
errViering, Daan H. H. M.; Janssen, Mirian C. H.; de Baaij, Jeroen H. F.
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Cognitive functioning and mental health in children with a primary mitochondrial disease
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2022-10-01
err3
errOAAI
errvan de Loo, Kim F. E.; Custers, Jose A. E.; de Boer, Lonneke; van Lieshout, Marloes; de Vries, Maaike C.; Janssen, Mirian C. H.; Verhaak, Christianne M.
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Research Directions

No research directions
Co-authors
Cooperation Journals
L
Leo A. B. Joosten
H-index: 147 · Papers: 1.0K
P
Patrick F. Chinnery
H-index: 128 · Papers: 937
J
J.W.M. van der Meer
H-index: 116 · Papers: 842
B
Bart Jan Kullberg
H-index: 108 · Papers: 472
C
Corinne Antignac
H-index: 103 · Papers: 411
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