Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders

Por Lunsing, Roelineke J., Strating, Kim, de Koning, Tom J., Sijens, Paul E.
Publicado no Eur Radiol (2016)

Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia

Por Lawerman, Tjitske F., Brandsma, Rick, Verbeek, Renate J., van der Hoeven, Johannes H., Lunsing, Roelineke J., Kremer, Hubertus P. H., Sival, Deborah A.
Publicado no Front Hum Neurosci (2017)

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

Por van Vliet, Danique, van Dam, Esther, van Rijn, Margreet, Derks, Terry G. J., Venema-Liefaard, Gineke, Hitzert, Marrit M., Lunsing, Roelineke J., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Publicado no JIMD Rep (2014)

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Por Kevelam, Sietske H., Rodenburg, Richard J., Wolf, Nicole I., Ferreira, Patrick, Lunsing, Roelineke J., Nijtmans, Leo G., Mitchell, Anne, Arroyo, Hugo A., Rating, Dietz, Vanderver, Adeline, van Berkel, Carola G.M., Abbink, Truus E.M., Heutink, Peter, van der Knaap, Marjo S.
Publicado em 2013

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Por Olson, Heather E., Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R.F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J., Burglen, Lydie, Lesca, Gaetan, Cho, Megan T., Smith, Lacey A., Sheidley, Beth R., Moufawad El Achkar, Christelle, Pearl, Phillip L., Poduri, Annapurna, Skraban, Cara M., Tarpinian, Jennifer, Nesbitt, Addie I., Fransen van de Putte, Dietje E., Ruivenkamp, Claudia A.L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A., Waxler, Jessica L., Wierenga, Klaas J., Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M., Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H., Schuurs-Hoeijmakers, Janneke, Brunner, Han G., Keren, Boris, Thevenon, Julien, Faivre, Laurence, Thomas, Gary, Thauvin-Robinet, Christel
Publicado no Am J Hum Genet (2018)