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Suzanne Koudijs

ORCID: 0000-0001-8066-2853
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About
Contact & Profiles
A5068363683
Research Areas
  • Cellular transport and secretion
  • Histiocytic Disorders and Treatments
  • Genetics and Neurodevelopmental Disorders
  • Cardiomyopathy and Myosin Studies
  • Tumors and Oncological Cases
  • Muscle Physiology and Disorders
  • Genomics and Chromatin Dynamics
  • Genomics and Rare Diseases
  • Vascular Malformations and Hemangiomas

Rijnstate Hospital
 2024

Radboud University Nijmegen
 2024

Radboud University Medical Center
 2024

SPZ Frankfurt Mitte
 2024

Erasmus MC
 2023

Erasmus MC - Sophia Children’s Hospital
 2022

 Early MRI diagnosis of Sturge Weber Syndrome type 1 in infants
OPENALEX - Publications 
Coriene E. Catsman‐Berrevoets Suzanne Koudijs Michiel Simon Jan Buijze Peter C. J. de Laat Suzanne G.M.A. Pasmans and 1 more Marjolein H.G. Dremmen

Patients with Sturge-Weber syndrome type 1 (SWS1) have a port-wine birthmark (PWB) as cutaneous hallmark. Up to 35% of neonates high risk PWB develop SWS1. Clinical manifestations are severe and often progressive. Especially early onset seizures associated worse neurocognitive outcome. Identification pre-symptomatic SWS1 patients is hampered because brain MRI in the first months life does not always show for characteristic leptomeningeal capillary malformation (LMC).Identification sensitive...

10.1016/j.ejpn.2022.04.002 article EN cc-by European Journal of Paediatric Neurology 2022-04-13
 Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
OPENALEX - Publications 
Sarah E. Sheppard Laura Bryant Rochelle N. Wickramasekara Courtney Vaccaro Brynn Robertson and 95 more Jodi Hallgren Jason Hulen Cynthia J. Watson Víctor Faùndes Yannis Duffourd Pearl Lee M. Celeste Simon Xavier de la Cruz Natàlia Padilla Marco Flores‐Méndez Naiara Akizu Jacqueline Smiler Renata Pellegrino da Silva Dong Li Michael March Abdias Diaz‐Rosado Isabella Peixoto de Barcelos Zhao Xiang Choa Chin Yan Lim Christèle Dubourg Hubert Journel Florence Démurger Maureen Mulhern Cigdem I. Akman Natalie Lippa Marisa V. Andrews Dustin Baldridge John N. Constantino Arie van Haeringen Irina Snoeck-Streef Penny Chow Anne Hing John M. Graham Margaret Au Laurence Faivre Wei Shen Rong Mao Janice C. Palumbos David Viskochil William A. Gahl Cynthia J. Tifft Ellen F. Macnamara Natalie Hauser Rebecca L. Miller Jessica Maffeo Alexandra Afenjar Diane Doummar Boris Keren Pamela Arn Sarah K. Macklin‐Mantia Ilse Meerschaut Bert Callewaert André Reis Christiane Zweier Carole Brewer Anand Saggar Marie Falkenberg Smeland Ajith Kumar Frances Elmslie Charu Deshpande Mathilde Nizon Benjamin Cogné Yvette van Ierland Martina Wilke Marjon van Slegtenhorst Suzanne Koudijs Jin Yun Chen David Dredge Danielle B. Pier Saskia B. Wortmann Erik‐Jan Kamsteeg Johannes Koch Devon Haynes Lynda Pollack Hannah Titheradge Kara Ranguin Anne‐Sophie Denommé‐Pichon Sacha Weber Rubén Pérez de la Fuente Jaime Sánchez del Pozo José Miguel Lezana Rosales Pascal Joset Katharina Steindl Anita Rauch Davide Mei Francesco Mari Renzo Guerrini James Lespinasse Frédéric Tran Mau‐Them Christophe Philippe Benjamin Dauriat Laure Raymond Sébastien Moutton Anna M. Cueto‐González Tiong Yang Tan

Pathogenic variants in

10.1126/sciadv.ade1463 article EN cc-by-nc Science Advances 2023-03-10
 Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait
OPENALEX - Publications 
Jamie I. Verhoeven Jasper Kramer Jürgen Seeger J. Molenaar Hilde M. H. Braakman and 7 more Erik‐Jan Kamsteeg Richard J. Rodenburg Benno Küsters Suzanne Koudijs Baziel G.M. van Engelen Corrie E. Erasmus Nicol C. Voermans

Brody disease is a rare autosomal recessive myopathy, caused by pathogenic variants in the

10.1212/wnl.0000000000209164 article EN Neurology 2024-02-19
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