Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Carola G.M. van Berkel"'
Autor:
Barbara van Kollenburg, Adri A.M. Thomas, Gerre Vermeulen, Gesina A.M. Bertrand, Carola G.M. van Berkel, Jan C. Pronk, Christopher G. Proud, Marjo S. van der Knaap, Gert C. Scheper
Publikováno v:
Neurobiology of Disease, Vol 21, Iss 3, Pp 496-504 (2006)
Leukoencephalopathy with vanishing white matter (VWM) is an inherited childhood white matter disorder, caused by mutations in the genes encoding eukaryotic initiation factor 2B (eIF2B). The present study showed that, while the eIF2B activity was redu
Externí odkaz:
https://doaj.org/article/8159bc0d1f464732aa20f85a8cf2c051
Autor:
Paola Goffrini, Fiorella Piemonte, Daniele Ghezzi, Teresa Rizza, Diego Martinelli, Rosalba Carrozzo, Adeline Vanderver, Sandra Jacinto, Anna Ardissone, Alessandra Torraco, Ishwar C. Verma, Carola G.M. van Berkel, Andrea Legati, Manju A. Kurian, Sunny Philip, Ileana Ferrero, Marco Tartaglia, Carlo Dionisi-Vici, Isabella Moroni, Marjo S. van der Knaap, Fatima Furtado, Truus E.M. Abbink, Mingyan Fang, Jianguo Zhang, Tiziana Langella, Patrizia Accorsi, Enrico Bertini, Elsa Bevivino, Cristina Dallabona, Daria Diodato, Marcello Niceta, Sunita Bijarnia-Mahay, Eleonora Lamantea, Daniela Verrigni
Publikováno v:
Brain, 139, 782-794. Oxford University Press
Dallabona, C, Abbink, T E M, Carrozzo, R, Torraco, A, Legati, A, van Berkel, C G M, Niceta, M, Langella, T, Verrigni, D, Rizza, T, Diodato, D, Piemonte, F, Lamantea, E, Fang, M, Zhang, J, Martinelli, D, Bevivino, E, Dionisi-Vici, C, Vanderver, A, Philip, S G, Kurian, M A, Verma, I C, Bijarnia-Mahay, S, Jacinto, S, Furtado, F, Accorsi, P, Ardissone, A, Moroni, I, Ferrero, I, Tartaglia, M, Goffrini, P, Ghezzi, D, van der Knaap, M S & Bertini, E 2016, ' LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance ', Brain, vol. 139, pp. 782-794 . https://doi.org/10.1093/brain/awv392
Dallabona, C, Abbink, T E M, Carrozzo, R, Torraco, A, Legati, A, van Berkel, C G M, Niceta, M, Langella, T, Verrigni, D, Rizza, T, Diodato, D, Piemonte, F, Lamantea, E, Fang, M, Zhang, J, Martinelli, D, Bevivino, E, Dionisi-Vici, C, Vanderver, A, Philip, S G, Kurian, M A, Verma, I C, Bijarnia-Mahay, S, Jacinto, S, Furtado, F, Accorsi, P, Ardissone, A, Moroni, I, Ferrero, I, Tartaglia, M, Goffrini, P, Ghezzi, D, van der Knaap, M S & Bertini, E 2016, ' LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance ', Brain, vol. 139, pp. 782-794 . https://doi.org/10.1093/brain/awv392
This study focused on the molecular characterization of patients with leukoencephalopathy associated with a specific biochemical defect of mitochondrial respiratory chain complex III, and explores the impact of a distinct magnetic resonance imaging p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a546e9b00dd26f960d455e469f2ea927
https://doi.org/10.1093/brain/awv392
https://doi.org/10.1093/brain/awv392
Autor:
Paola Goffrini, Tiziana Langella, Isabella Moroni, Daniele Ghezzi, Marcello Niceta, Teresa Rizza, Manju A. Kurian, Daria Diodato, Cristina Dallabona, Sunny Philip, Carlo Dionisi-Vici, Fiorella Piemonte, Rosalba Carrozzo, Jianguo Zhang, Andrea Legati, Diego Martinelli, Adeline Vanderver, Truus E.M. Abbink, Enrico Bertini, Marjo S. van der Knaap, Ishwar C. Verma, Sandra Jacinto, Fatima Furtado, Patrizia Accorsi, Eleonora Lamantea, Marco Tartaglia, Daniela Verrigni, Elsa Bevivino, Sunita Bijarnia-Mahay, Carola G.M. van Berkel, Ileana Ferrero, Mingyan Fang, Anna Ardissone, Alessandra Torraco
Publikováno v:
Brain : a journal of neurology. 141(11)
Cristina Dallabona, Truus E. M. Abbink, Rosalba Carrozzo, Alessandra Torraco, Andrea Legati, Carola G. M. van Berkel, Marcello Niceta, Tiziana Langella, Daniela Verrigni, Teresa Rizza, Daria Diodato, Fiorella Piemonte, Eleonora Lamantea, Mingyan Fang
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e85cd3932fc6e2ba2e0ab92e41b86db
https://pubmed.ncbi.nlm.nih.gov/26912632
https://pubmed.ncbi.nlm.nih.gov/26912632
Autor:
Christopher G. Proud, Vivi M. Heine, Malu Clair Van De Beek, Marjo S. van der Knaap, Truus E.M. Abbink, Lisanne E. Wisse, Carola G.M. van Berkel, Timo J. ter Braak, Joke Wortel
Publikováno v:
Wisse, L E, ter Braak, T J, van de Beek, M-C, van Berkel, C G M, Wortel, J, Heine, V M, Proud, C G, van der Knaap, M S & Abbink, T E M 2018, ' Adult mouse eIF2Bϵ Arg191His astrocytes display a normal integrated stress response in vitro ', Scientific Reports, vol. 8, no. 1, 3773 . https://doi.org/10.1038/s41598-018-21885-x
Scientific reports, 8(1):3773. Nature Publishing Group
Wisse, L E, Ter Braak, T J, Van De Beek, M C, Van Berkel, C G M, Wortel, J, Heine, V M, Proud, C G, Van Der Knaap, M S & Abbink, T E M 2018, ' Adult mouse eIF2Bϵ Arg191His astrocytes display a normal integrated stress response in vitro ', Scientific Reports, vol. 8, no. 1, 3773, pp. 1-9 . https://doi.org/10.1038/s41598-018-21885-x
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Scientific Reports, 8(1):3773. Nature Publishing Group
Scientific Reports
Scientific Reports, 8(1):3773, 1-9. Nature Publishing Group
Scientific reports, 8(1):3773. Nature Publishing Group
Wisse, L E, Ter Braak, T J, Van De Beek, M C, Van Berkel, C G M, Wortel, J, Heine, V M, Proud, C G, Van Der Knaap, M S & Abbink, T E M 2018, ' Adult mouse eIF2Bϵ Arg191His astrocytes display a normal integrated stress response in vitro ', Scientific Reports, vol. 8, no. 1, 3773, pp. 1-9 . https://doi.org/10.1038/s41598-018-21885-x
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Scientific Reports, 8(1):3773. Nature Publishing Group
Scientific Reports
Scientific Reports, 8(1):3773, 1-9. Nature Publishing Group
Vanishing white matter (VWM) is a genetic childhood white matter disorder, characterized by chronic as well as episodic, stress provoked, neurological deterioration. Treatment is unavailable and patients often die within a few years after onset. VWM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acb0e92b58bf5f6573da80f457b73b60
https://research.vumc.nl/en/publications/979e268b-d224-4bcc-9ba8-d760d6da7cde
https://research.vumc.nl/en/publications/979e268b-d224-4bcc-9ba8-d760d6da7cde
Autor:
Marjo S. van der Knaap, Grace M. Hobson, Geneviève Bernard, Lorena Travaglini, Maja Tarailo-Graovac, Coriene E. Catsman-Berrevoets, Jennifer R. Taube, Simona Orcesi, Mark A. Tarnopolsky, Davide Tonduti, Enrico Bertini, Jolanda H. Schieving, Truus E.M. Abbink, Karen Sperle, Clara D.M. van Karnebeek, Nicole I. Wolf, Enza Maria Valente, Sietske H. Kevelam, Quinten Waisfisz, Marjan E. Steenweg, Carola G.M. van Berkel, Richard L. Friederich, John R. Østergaard, Mahmoud F. Elsaid, Erik A. Sistermans, Rosalina M. L. van Spaendonk
Publikováno v:
Kevelam, S H, Taube, J R, van Spaendonk, R M L, Bertini, E, Sperle, K, Tarnopolsky, M, Tonduti, D, Valente, E M, Travaglini, L, Sistermans, E A, Bernard, G, Catsman-Berrevoets, C E, van Karnebeek, C D M, Ostergaard, J R, Friederich, R L, Elsaid, M F, Schieving, J H, Tarailo-Graovac, M, Orcesi, S, Steenweg, M E, van Berkel, C G M, Waisfisz, Q, Abbink, G E M, Knaap, M, Hobson, G M & Wolf, N I 2015, ' Altered PLP1 splicing causes hypomyelination of early myelinating structures ', Annals of Clinical and Translational Neurology, vol. 2, no. 6, pp. 648-661 . https://doi.org/10.1002/acn3.203
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 2(6), 648-661. John Wiley & Sons Inc.
Annals of Clinical and Translational Neurology, 2(6), 648-661. John Wiley and Sons Ltd
Annals of clinical and translational neurology, 2(6), 648-661. John Wiley and Sons Ltd
Kevelam, S H, Taube, J R, van Spaendonk, R M L, Bertini, E, Sperle, K, Tarnopolsky, M, Tonduti, D, Valente, E M, Travaglini, L, Sistermans, E A, Bernard, G, Catsman-Berrevoets, C E, van Karnebeek, C D M, Østergaard, J R, Friederich, R L, Fawzi Elsaid, M, Schieving, J H, Tarailo-Graovac, M, Orcesi, S, Steenweg, M E, van Berkel, C G M, Waisfisz, Q, Abbink, T E M, van der Knaap, M S, Hobson, G M & Wolf, N I 2015, ' Altered PLP1 splicing causes hypomyelination of early myelinating structures ', Annals of clinical and translational neurology, vol. 2, no. 6, pp. 648-61 . https://doi.org/10.1002/acn3.203
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 2(6), 648-661. John Wiley & Sons Inc.
Annals of Clinical and Translational Neurology, 2(6), 648-661. John Wiley and Sons Ltd
Annals of clinical and translational neurology, 2(6), 648-661. John Wiley and Sons Ltd
Kevelam, S H, Taube, J R, van Spaendonk, R M L, Bertini, E, Sperle, K, Tarnopolsky, M, Tonduti, D, Valente, E M, Travaglini, L, Sistermans, E A, Bernard, G, Catsman-Berrevoets, C E, van Karnebeek, C D M, Østergaard, J R, Friederich, R L, Fawzi Elsaid, M, Schieving, J H, Tarailo-Graovac, M, Orcesi, S, Steenweg, M E, van Berkel, C G M, Waisfisz, Q, Abbink, T E M, van der Knaap, M S, Hobson, G M & Wolf, N I 2015, ' Altered PLP1 splicing causes hypomyelination of early myelinating structures ', Annals of clinical and translational neurology, vol. 2, no. 6, pp. 648-61 . https://doi.org/10.1002/acn3.203
Objective The objective of this study was to investigate the genetic etiology of the X-linked disorder “Hypomyelination of Early Myelinating Structures” (HEMS). Methods We included 16 patients from 10 families diagnosed with HEMS by brain MRI cri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51257249ae6a50e8c2a4eb225d2222b7
https://research.vu.nl/en/publications/7454cef3-29b3-4c0d-b5fe-0ff50df509dd
https://research.vu.nl/en/publications/7454cef3-29b3-4c0d-b5fe-0ff50df509dd
Autor:
Eléonore Tollard, Christel Depienne, Carola G.M. van Berkel, Graziella Uziel, Céline Dupuits, Maarten Kamermans, Truus E.M. Abbink, Suzanna G.M. Frints, Nienke L. Postma, Alexis Brice, Adeline Vanderver, Christine E. M. de Die-Smulders, Emiel Polder, Marjo S. van der Knaap, Nicole I. Wolf, Frédéric Sedel, Marianna Bugiani, Damien Galanaud, J. S. H. Vles, Vera M. Kalscheuer, Valerie Touitou, Jan Klooster, Frédéric Darios, Cengiz Yalcinkaya
Publikováno v:
The Lancet Neurology
The Lancet Neurology, Elsevier, 2013, 12 (7), pp.659-68. ⟨10.1016/S1474-4422(13)70053-X⟩
Depienne, C, Bugiani, M, Dupuits, C, Galanaud, D, Touitou, V, Postma, N L, van Berkel, C G M, Polder, E, Tollard, E, Darios, F, Brice, A, de Die-Smulders, C E, Vles, J S, Vanderver, A, Uziel, G, Yalcinkaya, C, Frints, S G, Kalscheuer, V M, Klooster, J, Kamermans, M, Abbink, G E M, Wolf, N I, Sedel, F & van der Knaap, M S 2013, ' Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study ', Lancet Neurology, vol. 12, no. 7, pp. 659-668 . https://doi.org/10.1016/S1474-4422(13)70053-X
Lancet Neurology
Lancet Neurology, 12(7), 659-668. Lancet Publishing Group
The Lancet Neurology, 2013, 12 (7), pp.659-68. ⟨10.1016/S1474-4422(13)70053-X⟩
Lancet Neurology, 12(7), 659-668. Elsevier Science
The Lancet Neurology, Elsevier, 2013, 12 (7), pp.659-668. ⟨10.1016/S1474-4422(13)70053-X⟩
The Lancet Neurology; Vol 12
Lancet Neurology, 12, 659-668. Lancet Publishing Group
Lancet neurology, 12(7), 659-668. Lancet Publishing Group
The Lancet Neurology, Elsevier, 2013, 12 (7), pp.659-68. ⟨10.1016/S1474-4422(13)70053-X⟩
Depienne, C, Bugiani, M, Dupuits, C, Galanaud, D, Touitou, V, Postma, N L, van Berkel, C G M, Polder, E, Tollard, E, Darios, F, Brice, A, de Die-Smulders, C E, Vles, J S, Vanderver, A, Uziel, G, Yalcinkaya, C, Frints, S G, Kalscheuer, V M, Klooster, J, Kamermans, M, Abbink, G E M, Wolf, N I, Sedel, F & van der Knaap, M S 2013, ' Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study ', Lancet Neurology, vol. 12, no. 7, pp. 659-668 . https://doi.org/10.1016/S1474-4422(13)70053-X
Lancet Neurology
Lancet Neurology, 12(7), 659-668. Lancet Publishing Group
The Lancet Neurology, 2013, 12 (7), pp.659-68. ⟨10.1016/S1474-4422(13)70053-X⟩
Lancet Neurology, 12(7), 659-668. Elsevier Science
The Lancet Neurology, Elsevier, 2013, 12 (7), pp.659-668. ⟨10.1016/S1474-4422(13)70053-X⟩
The Lancet Neurology; Vol 12
Lancet Neurology, 12, 659-668. Lancet Publishing Group
Lancet neurology, 12(7), 659-668. Lancet Publishing Group
International audience; BACKGROUND: Mutant mouse models suggest that the chloride channel ClC-2 has functions in ion and water homoeostasis, but this has not been confirmed in human beings. We aimed to define novel disorders characterised by distinct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4620ddd982ef1059e8c44014ce925e72
https://doi.org/10.1016/S1474-4422(13)70053-X
https://doi.org/10.1016/S1474-4422(13)70053-X
Autor:
Stephanie Dooves, Carola G.M. van Berkel, Marjo S. van der Knaap, Laura van Berge, Emiel Polder, Gert C. Scheper
Publikováno v:
Biochemical Journal, 441, 955-962. Portland Press Ltd.
van Berge, L, Dooves, S, van Berkel, C G M, Polder, E, van der Knaap, M S & Scheper, G C 2012, ' Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA ', Biochemical Journal, vol. 441, pp. 955-962 . https://doi.org/10.1042/BJ20110795
Biochemical journal, 441(3), 955-962. Portland Press Ltd.
van Berge, L, Dooves, S, van Berkel, C G M, Polder, E, van der Knaap, M S & Scheper, G C 2012, ' Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA ', Biochemical Journal, vol. 441, pp. 955-962 . https://doi.org/10.1042/BJ20110795
Biochemical journal, 441(3), 955-962. Portland Press Ltd.
LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is an autosomal recessive white matter disorder with slowly progressive cerebellar ataxia, spasticity and dorsal column dysfunction. Magnetic resonance imagi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89cd201cda92cc8c7a62627587cd9b3b
https://research.vu.nl/en/publications/2e078f4c-01d1-4d44-8597-ffbffd26c0d8
https://research.vu.nl/en/publications/2e078f4c-01d1-4d44-8597-ffbffd26c0d8
Autor:
Martin A. Rooimans, Jan C. Pronk, Hans Joenje, Anneke B. Oostra, Eufar, Jerome R. Lo Ten Foe, Fré Arwert, Franca di Summa, Carola G.M. van Berkel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba6ba6363d6d710663f2ae11dcdcccfd
https://doi.org/10.1159/000425570
https://doi.org/10.1159/000425570
Autor:
Adri A. M. Thomas, Jan C. Pronk, Gert C. Scheper, Barbara van Kollenburg, Marjo S. van der Knaap, Gerre Vermeulen, Gesina A.M. Bertrand, Carola G.M. van Berkel, Christopher G. Proud
Publikováno v:
Neurobiology of Disease, Vol 21, Iss 3, Pp 496-504 (2006)
Neurobiology of Disease, 21(3), 496-504. Academic Press Inc.
Van Kollenburg, B, Thomas, A A M, Vermeulen, G, Bertrand, G A M, Van Berkel, C G M, Pronk, J C, Proud, C G, Van Der Knaap, M S & Scheper, G C 2006, ' Regulation of protein synthesis in lymphoblasts from vanishing white matter patients ', Neurobiology of Disease, vol. 21, no. 3, pp. 496-504 . https://doi.org/10.1016/j.nbd.2005.08.009
Neurobiology of Disease, 21(3), 496-504. Academic Press Inc.
Van Kollenburg, B, Thomas, A A M, Vermeulen, G, Bertrand, G A M, Van Berkel, C G M, Pronk, J C, Proud, C G, Van Der Knaap, M S & Scheper, G C 2006, ' Regulation of protein synthesis in lymphoblasts from vanishing white matter patients ', Neurobiology of Disease, vol. 21, no. 3, pp. 496-504 . https://doi.org/10.1016/j.nbd.2005.08.009
Leukoencephalopathy with vanishing white matter (VWM) is an inherited childhood white matter disorder, caused by mutations in the genes encoding eukaryotic initiation factor 2B (eIF2B). The present study showed that, while the eIF2B activity was redu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76425b95843e2947bc84e0ed1ef0cdaa
https://doi.org/10.1016/j.nbd.2005.08.009
https://doi.org/10.1016/j.nbd.2005.08.009
Autor:
Maria Savino, Anna Savoia, Leonarda Ianzano, Carola G.M. van Berkel, Hans Joenje, Quinten Waisfisz, Maureen E. Hoatlin, Christopher G. Mathew, Neil V. Morgan, Rachel A. Gibson, Johan P. de Winter, Jan C. Pronk, Fré Arwert
Publikováno v:
Nature Genetics, 22(4), 379-383. Nature Publishing Group
Waisfisz, Q, Morgan, N V, Savino, M, De Winter, J P, Van Berkel, C G M, Hoatlin, M E, Ianzano, L, Gibson, R A, Arwert, F, Savoia, A, Mathew, C G, Pronk, J C & Joenje, H 1999, ' Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism ', Nature Genetics, vol. 22, no. 4, pp. 379-383 . https://doi.org/10.1038/11956
Waisfisz, Q, Morgan, N V, Savino, M, De Winter, J P, Van Berkel, C G M, Hoatlin, M E, Ianzano, L, Gibson, R A, Arwert, F, Savoia, A, Mathew, C G, Pronk, J C & Joenje, H 1999, ' Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism ', Nature Genetics, vol. 22, no. 4, pp. 379-383 . https://doi.org/10.1038/11956
Somatic mosaicism due to reversion of a pathogenic allele to wild type has been described in several autosomal recessive disorders. The best known mechanism involves intragenic mitotic recombination or gene conversion in compound heterozygous patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4417094ec4a5e4132ea29b9d57850f8
https://doi.org/10.1038/11956
https://doi.org/10.1038/11956