Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome
Nicolaou, Nayia, Margadant, Coert, Kevelam, Sietske H, Lilien, Marc R, Oosterveld, Michiel J S, Kreft, Maaike, van Eerde, Albertien M, Pfundt, Rolph, Terhal, Paulien A, van der Zwaag, Bert, Nikkels, Peter G J, Sachs, Norman, Goldschmeding, Roel, Knoers, Nine V A M, Renkema, Kirsten Y, Sonnenberg, Arnoud
Published in The Journal of clinical investigation (01.12.2012)
Published in The Journal of clinical investigation (01.12.2012)
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Journal Article
Recessive ITPA mutations cause an early infantile encephalopathy
Kevelam, Sietske H., Bierau, Jörgen, Salvarinova, Ramona, Agrawal, Shakti, Honzik, Tomas, Visser, Dennis, Weiss, Marjan M., Salomons, Gajja S., Abbink, Truus E. M., Waisfisz, Quinten, van der Knaap, Marjo S.
Published in Annals of neurology (01.10.2015)
Published in Annals of neurology (01.10.2015)
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Journal Article
Novel (ovario) leukodystrophy related to AARS2 mutations
Dallabona, Cristina, Diodato, Daria, Kevelam, Sietske H, Haack, Tobias B, Wong, Lee-Jun, Salomons, Gajja S, Baruffini, Enrico, Melchionda, Laura, Mariotti, Caterina, Strom, Tim M, Meitinger, Thomas, Prokisch, Holger, Chapman, Kim, Colley, Alison, Rocha, Helena, Ounap, Katrin, Schiffmann, Raphael, Salsano, Ettore, Savoiardo, Mario, Hamilton, Eline M, Abbink, Truus E M, Wolf, Nicole I, Ferrero, Ileana, Lamperti, Costanza, Zeviani, Massimo, Vanderver, Adeline, Ghezzi, Daniele, van der Knaap, Marjo S
Published in Neurology (10.06.2014)
Published in Neurology (10.06.2014)
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Journal Article
Copy number variations in patients with electrical status epilepticus in sleep
Kevelam, Sietske H G, Jansen, Floor E, Binsbergen, Ellen van, Braun, Kees P J, Verbeek, Nienke E, Lindhout, Dick, Poot, Martin, Brilstra, Eva H
Published in Journal of child neurology (01.02.2012)
Published in Journal of child neurology (01.02.2012)
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Journal Article
Update on Leukodystrophies: A Historical Perspective and Adapted Definition
Kevelam, Sietske H, Steenweg, Marjan E, Srivastava, Siddharth, Helman, Guy, Naidu, Sakkubai, Schiffmann, Raphael, Blaser, Susan, Vanderver, Adeline, Wolf, Nicole I, van der Knaap, Marjo S
Published in Neuropediatrics (01.12.2016)
Published in Neuropediatrics (01.12.2016)
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Journal Article
Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
Bugiani, Marianna, Kevelam, Sietske H, Bakels, Hannah S, Waisfisz, Quinten, Ceuterick-de Groote, Chantal, Niessen, Hans W M, Abbink, Truus E M, Lesnik Oberstein, Saskia A M J, van der Knaap, Marjo S
Published in Neurology (25.10.2016)
Published in Neurology (25.10.2016)
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Journal Article
Gain of glycosylation in integrin alpha 3 causes lung disease and nephrotic syndrome
Nicolaou, Nayia, Margadant, Coert, Kevelam, Sietske H, Lilien, Marc R, Oosterveld, Michiel J S, Kreft, Maaike, van Eerde, Albertien M, Pfundt, Rolph, Terhal, Paulien A, van der Zwaag, Bert, Nikkels, Peter G J, Sachs, Norman, Goldschmeding, Roel, Knoers, Nine V A M, Renkema, Kirsten Y, Sonnenberg, Arnoud
Published in The Journal of clinical investigation (01.12.2012)
Published in The Journal of clinical investigation (01.12.2012)
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Journal Article
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern
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
Published in Neurology (23.04.2013)
Published in Neurology (23.04.2013)
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Journal Article
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy
KEVELAM, Sietske H, BUGIANI, Marianna, KANHAI, Warsha A, WOLF, Nicole I, ABBINK, Truus E. M, WAISFISZ, Quinten, HEUTINK, Peter, DER KNAAP, Marjo S. Van, SALOMONS, Gajja S, FEIGENBAUM, Annette, BLASER, Susan, PRASAD, Chitra, HÄBERLE, Johannes, BARIC, Ivo, BAKKER, Ingrid M. C, POSTMA, Nienke L
Published in Brain (London, England : 1878) (01.05.2013)
Published in Brain (London, England : 1878) (01.05.2013)
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Journal Article
Acute intermittent porphyria-related leukoencephalopathy
Kevelam, Sietske H, Neeleman, Rochus A, Waisfisz, Quinten, Friesema, Edith C H, Langendonk, Janneke G, van der Knaap, Marjo S
Published in Neurology (20.09.2016)
Published in Neurology (20.09.2016)
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Journal Article
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes
van de Pol, Laura A, Wolf, Nicole I, van Weissenbruch, Mirjam M, Stam, Cornelie J, Weiss, Janneke M, Waisfisz, Quinten, Kevelam, Sietske H, Bugiani, Mariana, van de Kamp, Jiddeke M, van der Knaap, Marjo S
Published in Neuropediatrics (01.12.2015)
Published in Neuropediatrics (01.12.2015)
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Journal Article
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2
Kevelam, Sietske H.G., van Harssel, Jeske J.T., van der Zwaag, Bert, Smeets, Hubertus J.M., Paulussen, Aimee D.C., Lichtenbelt, Klaske D.
Published in American journal of medical genetics. Part A (01.01.2012)
Published in American journal of medical genetics. Part A (01.01.2012)
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Journal Article
LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy
Kevelam, Sietske H., van Engelen, Baziel G.M., van Berkel, Carola G.M., Küsters, Benno, van der Knaap, Marjo S.
Published in Muscle & nerve (01.04.2014)
Published in Muscle & nerve (01.04.2014)
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Journal Article
Altered PLP1 splicing causes hypomyelination of early myelinating structures
Kevelam, Sietske H., Taube, Jennifer R., Spaendonk, Rosalina M. L., Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A., Bernard, Geneviève, Catsman‐Berrevoets, Coriene E., Karnebeek, Clara D. M., Østergaard, John R., Friederich, Richard L., Fawzi Elsaid, Mahmoud, Schieving, Jolanda H., Tarailo‐Graovac, Maja, Orcesi, Simona, Steenweg, Marjan E., Berkel, Carola G. M., Waisfisz, Quinten, Abbink, Truus E. M., Knaap, Marjo S., Hobson, Grace M., Wolf, Nicole I.
Published in Annals of clinical and translational neurology (01.06.2015)
Published in Annals of clinical and translational neurology (01.06.2015)
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Journal Article
Gain of glycosylation in integrin [alpha]3 causes lung disease and nephrotic syndrome
Nicolaou, Nayia, Margadant, Coert, Kevelam, Sietske H, Lilien, Marc R, Oosterveld, Michiel J S, Kreft, Maaike, van Eerde, Albertien M, Pfundt, Rolph, Terhal, Paulien A, van der Zwaag, Bert, Nikkels, Peter G J, Sachs, Norman, Goldschmeding, Roel, Knoers, Nine V A M, Renkema, Kirsten Y, Sonnenberg, Arnoud
Published in The Journal of clinical investigation (01.12.2012)
Get full text
Published in The Journal of clinical investigation (01.12.2012)
Journal Article
A Patient With a Mild Holoprosencephaly Spectrum Phenotype and Heterotaxy and a 1.3 Mb Deletion Encompassing GL12
KEVELAM, Sietske H. G, VAN HARSSEL, Jeske J. T, DER ZWAAG, Bert Van, SMEETS, Hubertus J. M, PAULUSSEN, Aimee D. C, LICHTENBEIT, Klaske D
Published in American journal of medical genetics. Part A (2012)
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Published in American journal of medical genetics. Part A (2012)
Journal Article