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M

Mirian C. H. Janssen

radboud university nijmegen
H指数:41
被引数:5,774

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Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study

钴胺素相关再甲基化障碍：妊娠结局与产前治疗—新病例及文献研究

Journal of Inherited Metabolic Disease
IF3.8
2026-09-060
PRE
Karolina M. Stepien; Jolanta Sykut-Cegielska; Jennifer Sloan; Flavia Piazzon; Sarah Bick; Juliette Bouchereau; Edwin C. Ferren; Nina Gold; Apolline Imbard; Mirian C. H. Janssen; Pavel Jesina; Lisa A. Joseph; Amanda Krzywdzińska-Rogowska; Louise Lapagesse; Fanny Mochel; Carol Van Ryzin; Manuel Schiff; Ida Vanessa Schwartz; Audrey Thurm; Wadih M. Zein; Charles P. Venditti; Martina Huemer; Irini Manoli
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

筛查工具提高了内科医生和儿科医生对遗传代谢病患者运动障碍的识别能力

Journal of Inherited Metabolic Disease
IF3.8
2025-11-090
OAAI
Ellen 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
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study

SERAC1相关MEGD(H)EL综合征的听力康复——来自多中心回顾性队列研究的启示

Molecular Genetics and Metabolism
IF3.5
2025-07-210
OAAI
Sebastian 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
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group

不同遗传代谢病在成人代谢中心的频率：10年后，SSIEM成人代谢医师组的另一份报告

JOURNAL OF INHERITED METABOLIC DISEASE
IF3.8
2025-02-060
PRE
Tchan, 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
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation

Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation 2b期sonlicromanol项目，用于m.3243A>G突变所致线粒体疾病患者

BRAIN
IF11.7
2024-11-060
OA
Smeitink, 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
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
HUMAN MUTATION
IF3.7
2024-10-030
OA
Pajusalu, 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
Whole-body Ndufs4 knockout mice with isolated complex I deficiency engage a futile adaptive brain response

具有孤立的复合物I缺陷的全身Ndufs4敲除小鼠会产生徒劳的适应性大脑反应

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
IF2.7
2024-09-010
PRE
van 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.
LAMA2-Related Muscular Dystrophy Across the Life Span
NEUROLOGY-GENETICS
IF3.7
2023-10-0114
OAAI
Bouman, 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.
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-07-243
OAAI
Crefcoeur, 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

研究方向

暂未获取到该数据
J
Jan Smeıtınk
H 指数:92论文数:468被引数:3.1万
A
Annet M. Bosch
H 指数:41论文数:189被引数:6,901
J
Janneke G. Langendonk
H 指数:35论文数:143被引数:4,034
P
Paul de Laat
H 指数:16论文数:30被引数:742
C
Carla E. M. Hollak
H 指数:78论文数:435被引数:1.9万
M
Maaike C. de Vries
H 指数:21论文数:61被引数:2,025
H
Hub Wollersheim
H 指数:50论文数:292被引数:7,777
M
M. Estela Rubio‐Gozalbo
H 指数:42论文数:173被引数:5,410
S
Saskia Koene
H 指数:24论文数:90被引数:1,885
J
Jan T. Groothuis
H 指数:21论文数:126被引数:1,704