Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction

por Koene, Saskia, Smeitink, Jan
Publicado 2010

Mitochondrial medicine

por Koene, Saskia, Smeitink, Jan
Publicado 2011

Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients

por Smeitink, Jan, Koene, Saskia, Beyrath, Julien, Saris, Christiaan, Turnbull, Douglas, Janssen, Mirian
Publicado 2019

Quantification of gait in mitochondrial m.3243A > G patients: a validation study

por Ramakers, Rob, Koene, Saskia, Groothuis, Jan T, de Laat, Paul, Janssen, Mirian CH, Smeitink, Jan
Publicado 2017

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study

por Ramakers, Rob, Koene, Saskia, Groothuis, Jan T., de Laat, Paul, Janssen, Mirian C. H., Smeitink, Jan
Publicado 2017

Fear of disease progression in carriers of the m.3243A > G mutation

por Custers, José A. E., de Laat, Paul, Koene, Saskia, Smeitink, Jan, Janssen, Mirian C. H., Verhaak, Christianne
Publicado 2018

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

por Koene, Saskia, Spaans, Edwin, Van Bortel, Luc, Van Lancker, Griet, Delafontaine, Brant, Badilini, Fabio, Beyrath, Julien, Smeitink, Jan
Publicado 2017

Mitochondrial disorders in children: toward development of small‐molecule treatment strategies

por Koopman, Werner JH, Beyrath, Julien, Fung, Cheuk‐Wing, Koene, Saskia, Rodenburg, Richard J, Willems, Peter HGM, Smeitink, Jan AM
Publicado 2016

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation

por Verhaak, Christianne, de Laat, Paul, Koene, Saskia, Tibosch, Marijke, Rodenburg, Richard, de Groot, Imelda, Knoop, Hans, Janssen, Mirian, Smeitink, Jan
Publicado 2016

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation

por de Laat, Paul, Koene, Saskia, vd Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Publicado 2012

Everyday Activities for Children with Mitochondrial Disorder: A Retrospective Chart Review

por Lindenschot, Marieke, de Groot, Imelda J. M., Koene, Saskia, Satink, Ton, Steultjens, Esther M. J., Nijhuis-van der Sanden, Maria W. G.
Publicado 2018

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

por de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Publicado 2012

High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

por Kwong, Anna Ka‐Yee, Wong, Virginia Chun‐Nei, Wong, Sheila Suet‐Na, Chu, Vanessa Loi‐Yan, Koene, Saskia, Smeitink, Jan, Fung, Cheuk‐Wing
Publicado 2021

The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders

por Janssen, Mirian C.H., Koene, Saskia, de Laat, Paul, Hemelaar, Pleun, Pickkers, Peter, Spaans, Edwin, Beukema, Rypko, Beyrath, Julien, Groothuis, Jan, Verhaak, Chris, Smeitink, Jan
Publicado 2018

Psychological functioning in children suspected for mitochondrial disease: the need for care

por van de Loo, Kim F. E., Custers, José A. E., Koene, Saskia, Klein, Inge-Lot, Janssen, Mirian C. H., Smeitink, Jan A. M., Verhaak, Christianne M.
Publicado 2020

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

por Koene, Saskia, Knijnenburg, Jeroen, Hoffer, Mariette J. V., Zwanenburg, Fleur, Haak, Monique C., Locher, Heiko, van Beelen, Edward S. A., Santen, Gijs W. E., Rotteveel, Liselotte J. C.
Publicado 2022

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

por Koene, Saskia, Peeters‐Scholte, Cacha M. P. C. D., Knijnenburg, Jeroen, de Vries, Linda S., van Scheltema, Phebe N. Adama, Meuwissen, Marije E., Steggerda, Sylke J., Santen, Gijs W. E.
Publicado 2020

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop

por Koene, Saskia, van Bon, Lara, Bertini, Enrico, Jimenez-Moreno, Cecilia, van der Giessen, Lianne, de Groot, Imelda, McFarland, Robert, Parikh, Sumit, Rahman, Shamima, Wood, Michelle, Zeman, Jiri, Janssen, Anjo, Smeitink, Jan
Publicado 2018

Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family

por Koene, Saskia, Klerx‐Melis, Floortje, Roest, Arno Anne Willem, Kleijwegt, Maarten Cornelis, Bootsma, Marianne, Haak, Monique C., van Haeringen, Meike Heleen, Ruivenkamp, Claudia Antoinette Laetitia, Nibbeling, Esther Anne Rieky, van Haeringen, Arie
Publicado 2022

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

por Lauffer, Peter, Boudin, Eveline, van der Kaay, Daniëlle C M, Koene, Saskia, van Haeringen, Arie, van Tellingen, Vera, Van Hul, Wim, Prickett, Timothy C R, Mortier, Geert, Espiner, Eric A, van Duyvenvoorde, Hermine A
Publicado 2022