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4. Synthetic magnetic resonance-based relaxometry and brain volume: cutoff values for predicting neurocognitive outcomes in very preterm infants

Author

MS Neonatologie, Brain, Child Health, Developmental Disorders, Vanderhasselt, Tim, Naeyaert, Maarten, Buls, Nico, Allemeersch, Gert Jan, Raeymaeckers, Steven, Raeymaekers, Hubert, Smeets, Nathalie, Cools, Filip, de Mey, Johan, Dudink, Jeroen, MS Neonatologie, Brain, Child Health, Developmental Disorders, Vanderhasselt, Tim, Naeyaert, Maarten, Buls, Nico, Allemeersch, Gert Jan, Raeymaeckers, Steven, Raeymaekers, Hubert, Smeets, Nathalie, Cools, Filip, de Mey, Johan, and Dudink, Jeroen

Published
2024

12. Overlapping cortical malformations in patients with pathogenic variants inGRIN1andGRIN2B

Author

Brock, Stefanie, primary, Laquerriere, Annie, additional, Marguet, Florent, additional, Myers, Scott J, additional, Hongjie, Yuan, additional, Baralle, Diana, additional, Vanderhasselt, Tim, additional, Stouffs, Katrien, additional, Keymolen, Kathelijn, additional, Kim, Sukhan, additional, Allen, James, additional, Shaulsky, Gil, additional, Chelly, Jamel, additional, Marcorelle, Pascale, additional, Aziza, Jacqueline, additional, Villard, Laurent, additional, Sacaze, Elise, additional, de Wit, Marie C Y, additional, Wilke, Martina, additional, Mancini, Grazia Maria Simonetta, additional, Hehr, Ute, additional, Lim, Derek, additional, Mansour, Sahar, additional, Traynelis, Stephen F, additional, Beneteau, Claire, additional, Denis-Musquer, Marie, additional, Jansen, Anna C, additional, Fry, Andrew E, additional, and Bahi-Buisson, Nadia, additional

Published
2022
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13. Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.

Author

Brock, Stefanie, Laquerriere, Annie, Marguet, Florent, Myers, Scott J., Hongjie, Yuan, Baralle, Diana, Vanderhasselt, Tim, Stouffs, Katrien, Keymolen, Kathelijn, Kim, Sukhan, Allen, James, Shaulsky, Gil, Chelly, Jamel, Marcorelle, Pascale, Aziza, Jacqueline, Villard, Laurent, Sacaze, Elise, de Wit, Marie C. Y., Wilke, Martina, and Mancini, Grazia Maria Simonetta

Abstract

Background Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1 or GRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this study was to further define the phenotypic spectrum of NMDAR-related MCDs. Methods We report the clinical, radiological and molecular features of 7 new patients and review data on 18 previously reported individuals with NMDAR-related MCDs. Neuropathological findings for two individuals with heterozygous variants in GRIN1 are presented. We report the clinical and neuropathological features of one additional individual with homozygous pathogenic variants in GRIN1. Results Heterozygous variants in GRIN1 and GRIN2B were associated with overlapping severe clinical and imaging features, including global developmental delay, epilepsy, diffuse dysgyria, dysmorphic basal ganglia and hippocampi. Neuropathological examination in two fetuses with heterozygous GRIN1 variants suggests that proliferation as well as radial and tangential neuronal migration are impaired. In addition, we show that neuronal migration is also impaired by homozygous GRIN1 variants in an individual with microcephaly with simplified gyral pattern. Conclusion These findings expand our understanding of the clinical and imaging features of the 'NMDARopathy' spectrum and contribute to our understanding of the likely underlying pathogenic mechanisms leading to MCD in these patients. [ABSTRACT FROM AUTHOR]

Published
2023
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14. Inter‐ and intra‐scanner variability of icobrain DM automated brain volumetry software on three different MRI systems

Author

Wittens, Mandy M.J., primary, Allemeersch, Gert‐Jan, additional, Sima, Diana M., additional, Naeyaert, Maarten, additional, Vanderhasselt, Tim, additional, Vanbinst, Anne‐Marie, additional, Buls, Nico, additional, De Brucker, Yannick, additional, Raeymaekers, Hubert, additional, Ribbens, Annemie, additional, Smeets, Dirk, additional, Van Hecke, Wim, additional, Fransen, Erik, additional, Nagels, Guy, additional, Bjerke, Maria, additional, De Mey, Johan, additional, and Engelborghs, Sebastiaan, additional

Published
2021
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15. Inter- and Intra-Scanner Variability of Automated Brain Volumetry on Three Magnetic Resonance Imaging Systems in Alzheimer’s Disease and Controls

Author

Wittens, Mandy Melissa Jane, primary, Allemeersch, Gert-Jan, additional, Sima, Diana Maria, additional, Naeyaert, Maarten, additional, Vanderhasselt, Tim, additional, Vanbinst, Anne-Marie, additional, Buls, Nico, additional, De Brucker, Yannick, additional, Raeymaekers, Hubert, additional, Fransen, Erik, additional, Smeets, Dirk, additional, van Hecke, Wim, additional, Nagels, Guy, additional, Bjerke, Maria, additional, de Mey, Johan, additional, and Engelborghs, Sebastiaan, additional

Published
2021
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17. Synthetic MRI demonstrates prolonged regional relaxation times in the brain of preterm born neonates with severe postnatal morbidity

Author

MS Neonatologie, Brain, Child Health, Vanderhasselt, Tim, Zolfaghari, Roya, Naeyaert, Maarten, Dudink, Jeroen, Buls, Nico, Allemeersch, Gert-Jan, Raeymaekers, Hubert, Cools, Filip, de Mey, Johan, MS Neonatologie, Brain, Child Health, Vanderhasselt, Tim, Zolfaghari, Roya, Naeyaert, Maarten, Dudink, Jeroen, Buls, Nico, Allemeersch, Gert-Jan, Raeymaekers, Hubert, Cools, Filip, and de Mey, Johan

Published
2021

18. Overlapping cortical malformations in patients with pathogenic variants in GRIN1and GRIN2B

Author

Brock, Stefanie, Laquerriere, Annie, Marguet, Florent, Myers, Scott J, Hongjie, Yuan, Baralle, Diana, Vanderhasselt, Tim, Stouffs, Katrien, Keymolen, Kathelijn, Kim, Sukhan, Allen, James, Shaulsky, Gil, Chelly, Jamel, Marcorelle, Pascale, Aziza, Jacqueline, Villard, Laurent, Sacaze, Elise, de Wit, Marie C Y, Wilke, Martina, Mancini, Grazia Maria Simonetta, Hehr, Ute, Lim, Derek, Mansour, Sahar, Traynelis, Stephen F, Beneteau, Claire, Denis-Musquer, Marie, Jansen, Anna C, Fry, Andrew E, and Bahi-Buisson, Nadia

Abstract

BackgroundMalformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1or GRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this study was to further define the phenotypic spectrum of NMDAR-related MCDs.MethodsWe report the clinical, radiological and molecular features of 7 new patients and review data on 18 previously reported individuals with NMDAR-related MCDs. Neuropathological findings for two individuals with heterozygous variants in GRIN1are presented. We report the clinical and neuropathological features of one additional individual with homozygous pathogenic variants in GRIN1.ResultsHeterozygous variants in GRIN1and GRIN2Bwere associated with overlapping severe clinical and imaging features, including global developmental delay, epilepsy, diffuse dysgyria, dysmorphic basal ganglia and hippocampi. Neuropathological examination in two fetuses with heterozygous GRIN1variants suggests that proliferation as well as radial and tangential neuronal migration are impaired. In addition, we show that neuronal migration is also impaired by homozygous GRIN1variants in an individual with microcephaly with simplified gyral pattern.ConclusionThese findings expand our understanding of the clinical and imaging features of the ‘NMDARopathy’ spectrum and contribute to our understanding of the likely underlying pathogenic mechanisms leading to MCD in these patients.

Published
2023
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20. Defining the phenotypical spectrum associated with variants in TUBB2A

Author

Brock, Stefanie, primary, Vanderhasselt, Tim, additional, Vermaning, Sietske, additional, Keymolen, Kathelijn, additional, Régal, Luc, additional, Romaniello, Romina, additional, Wieczorek, Dagmar, additional, Storm, Tim Matthias, additional, Schaeferhoff, Karin, additional, Hehr, Ute, additional, Kuechler, Alma, additional, Krägeloh-Mann, Ingeborg, additional, Haack, Tobias B, additional, Kasteleijn, Esmee, additional, Schot, Rachel, additional, Mancini, Grazia Maria Simonetta, additional, Webster, Richard, additional, Mohammad, Shekeeb, additional, Leventer, Richard J, additional, Mirzaa, Ghayda, additional, Dobyns, William B, additional, Bahi-Buisson, Nadia, additional, Meuwissen, Marije, additional, Jansen, Anna C, additional, and Stouffs, Katrien, additional

Published
2020
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24. Defining the phenotypical spectrum associated with variants in TUBB2A.

Author

Brock, Stefanie, Vanderhasselt, Tim, Vermaning, Sietske, Keymolen, Kathelijn, Régal, Luc, Romaniello, Romina, Wieczorek, Dagmar, Storm, Tim Matthias, Schaeferhoff, Karin, Hehr, Ute, Kuechler, Alma, Krägeloh-Mann, Ingeborg, Haack, Tobias B., Kasteleijn, Esmee, Schot, Rachel, Mancini, Grazia Maria Simonetta, Webster, Richard, Mohammad, Shekeeb, Leventer, Richard J., and Mirzaa, Ghayda

Abstract

Background Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging features, ranging from a normal cortex to polymicrogyria, while one patient has been reported with progressive atrophy of the cerebellar vermis. Methods In order to further refine the phenotypical spectrum associated with TUBB2A, clinical and imaging features of 12 patients with pathogenic TUBB2A variants, recruited via the international network of the authors, were reviewed. Results We report 12 patients with eight novel and one recurrent variants spread throughout the TUBB2A gene but encoding for amino acids clustering at the protein surface. Eleven patients (91.7%) developed seizures in early life. All patients suffered from intellectual disability, and 11 patients had severe motor developmental delay, with 4 patients (36.4%) being non-ambulatory. The cerebral cortex was normal in five individuals and showed dysgyria of variable severity in seven patients. Associated brain malformations were less frequent in TUBB2A patients compared with other tubulinopathies. None of the patients had progressive cerebellar atrophy. Conclusion The imaging phenotype associated with pathogenic variants in TUBB2A is highly variable, ranging from a normal cortex to extensive dysgyria with associated brain malformations. For recurrent variants, no clear genotype-phenotype correlations could be established, suggesting the role of additional modifiers. [ABSTRACT FROM AUTHOR]

Published
2021
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25. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

Author

UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Neuropédiatrie, Stouffs, Katrien, Moortgat, Stéphanie, Vanderhasselt, Tim, Vandervore, Laura, Dica, Alice, Mathot, Mikaël, Keymolen, Kathelijn, Seneca, Sara, Gheldof, Alexander, De Meirleir, Linda, Jansen, Anna C, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Neuropédiatrie, Stouffs, Katrien, Moortgat, Stéphanie, Vanderhasselt, Tim, Vandervore, Laura, Dica, Alice, Mathot, Mikaël, Keymolen, Kathelijn, Seneca, Sara, Gheldof, Alexander, De Meirleir, Linda, and Jansen, Anna C

Abstract

Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of microcephaly, short stature, pachygyria or polymicrogyria, colpocephaly, hypoplasia of the corpus callosum and superior vermis. These findings provide further confirmation of the phenotype related to pathogenic variants in RTTN.

Published
2018

27. Bi-allelic mutations in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

Author

Jansen, Anna C., primary, Vandervore, Laura, additional, Tanyalçin, Ibrahim, additional, Vanderhasselt, Tim, additional, Roelens, Filip, additional, Holder-Espinasse, Muriel, additional, Jørgensen, Agnete, additional, Pepin, Melanie G., additional, Petit, Florence, additional, Van Kien, Philippe Khau, additional, Bahi-Buisson, Nadia, additional, Lissens, Willy, additional, Gheldof, Alexander, additional, Byers, Peter H., additional, and Stouffs, Katrien, additional

Published
2017
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29. Bi-allelic variants inCOL3A1encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

Author

Vandervore, Laura, primary, Stouffs, Katrien, additional, Tanyalçin, Ibrahim, additional, Vanderhasselt, Tim, additional, Roelens, Filip, additional, Holder-Espinasse, Muriel, additional, Jørgensen, Agnete, additional, Pepin, Melanie G, additional, Petit, Florence, additional, Khau Van Kien, Philippe, additional, Bahi-Buisson, Nadia, additional, Lissens, Willy, additional, Gheldof, Alexander, additional, Byers, Peter H, additional, and Jansen, Anna C, additional

Published
2017
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35. The lateral view revisited with MDCT: A new approach towards a better understanding of the chest X-ray

Author

Vanderhasselt, Tim

Subjects
Thorax, Chest - Lung, Lung, Respiratory system
Abstract

Learning objectives Background Imaging findings OR Procedure details Conclusion Personal Information References, Learning objectives: To highlight the use of a new MDCT approach using progressively thickened slabs in a sagittal plane on average mode as an educational tool for a better understanding of the anatomy as well as common abnormalities seen on the lateral chest...

Published
2010
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36. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.

Author

Vandervore, Laura, Stouffs, Katrien, Tanyalçin, Ibrahim, Vanderhasselt, Tim, Roelens, Filip, Holder-Espinasse, Muriel, Jørgensen, Agnete, Pepin, Melanie G., Petit, Florence, Van Kien, Philippe Khau, Bahi-Buisson, Nadia, Lissens, Willy, Gheldof, Alexander, Byers, Peter H., and Jansen, Anna C.

Abstract

Background Collagens are one of the major constituents of the pial membrane, which plays a crucial role in neuronal migration and cortical lamination during brain development. Type III procollagen, the chains of which are encoded by COL3A1, is the ligand of the G protein-coupled receptor 56 (GPR56), also known as adhesion G protein-coupled receptor G1. Bi-allelic mutations in GPR56 give rise to cobblestone-like malformation, white matter changes and cerebellar dysplasia. This report shows that bi-allelic mutations in COL3A1 are associated with a similar phenotype. Methods Exome analysis was performed in a family consisting of two affected and two non-affected siblings. Brain imaging studies of this family and of two previously reported individuals with bi-allelic mutations in COL3A1 were reviewed. Functional assays were performed on dermal fibroblasts. Results Exome analysis revealed a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1. Brain MRI in the affected siblings as well as in the two previously reported individuals with bi-allelic COL3A1 mutations showed a brain phenotype similar to that associated with mutations in GPR56. Conclusion Homozygous or compound heterozygous mutations in COL3A1 are associated with cobblestone-like malformation in all three families reported to date. The variability of the phenotype across patients suggests that genetic alterations in distinct domains of type III procollagen can lead to different outcomes. The presence of cobblestone-like malformation in patients with bi- allelic COL3A1 mutations emphasises the critical role of the type III collagen-GPR56 axis and the pial membrane in the regulation of brain development and cortical lamination. [ABSTRACT FROM AUTHOR]

Published
2017
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37. Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

Author

Amrom, Dina, Hamdan, Fadi F.F., Michaud, Jacques J.L., Tanyalçin, Ibrahim, Lissens, Willy, Verhelst, Hélène, Deconinck, Nicolas, Brouhard, Gary G.J., Décarie, Jean Claude, Vanderhasselt, Tim, Das, Soma Jerome S., Jansen, Anna C M A.C., Amrom, Dina, Hamdan, Fadi F.F., Michaud, Jacques J.L., Tanyalçin, Ibrahim, Lissens, Willy, Verhelst, Hélène, Deconinck, Nicolas, Brouhard, Gary G.J., Décarie, Jean Claude, Vanderhasselt, Tim, Das, Soma Jerome S., and Jansen, Anna C M A.C.

Abstract

Dominant mutations in TUBB2B have been reported in patients with polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B. Twenty patients with polymicrogyria (five unilateral) were tested for mutations in TUBB2B by Sanger sequencing. We identified two novel de novo mutations, c.743C>T (p.Ala248Val) and c.1139G>T (p.Arg380Leu) in exon 4 of TUBB2B in three unrelated families. Brain magnetic resonance images showed polymicrogyria involving predominantly the perisylvian regions. In addition, there was a dysmorphic appearance of the basal ganglia, thin corpus callosum, enlargement of the ventricles, thinning of the white matter and hypoplasia of pons and cerebellar vermis. This combination of associated features was absent in all 17 patients with polymicrogyria in whom no mutation was identified. This report underlines that the association of polymicrogyria with thin or absent corpus callosum, dysmorphic basal ganglia, brainstem and vermis hypoplasia is highly likely to result from mutations in TUBB2B and provides further insight in how mutations in TUBB2B affect protein function. © 2014 John Wiley & Sons A/S., SCOPUS: ar.j, FLWIN, info:eu-repo/semantics/published

Published
2014

38. Bi-allelic variants in COL3A1encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts

Author

Vandervore, Laura, Stouffs, Katrien, Tanyalcin, Ibrahim, Vanderhasselt, Tim, Roelens, Filip, Holder-Espinasse, Muriel, Jørgensen, Agnete, Pepin, Melanie G, Petit, Florence, Khau Van Kien, Philippe, Bahi-Buisson, Nadia, Lissens, Willy, Gheldof, Alexander, Byers, Peter H, and Jansen, Anna C

Abstract

BackgroundCollagens are one of the major constituents of the pial membrane, which plays a crucial role in neuronal migration and cortical lamination during brain development. Type III procollagen, the chains of which are encoded by COL3A1, is the ligand of the G protein-coupled receptor 56 (GPR56), also known as adhesion G protein-coupled receptor G1. Bi-allelic mutations in GPR56give rise to cobblestone-like malformation, white matter changes and cerebellar dysplasia. This report shows that bi-allelic mutations in COL3A1are associated with a similar phenotype.MethodsExome analysis was performed in a family consisting of two affected and two non-affected siblings. Brain imaging studies of this family and of two previously reported individuals with bi-allelic mutations in COL3A1were reviewed. Functional assays were performed on dermal fibroblasts.ResultsExome analysis revealed a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1. Brain MRI in the affected siblings as well as in the two previously reported individuals with bi-allelic COL3A1mutations showed a brain phenotype similar to that associated with mutations in GPR56.ConclusionHomozygous or compound heterozygous mutations in COL3A1are associated with cobblestone-like malformation in all three families reported to date. The variability of the phenotype across patients suggests that genetic alterations in distinct domains of type III procollagen can lead to different outcomes. The presence of cobblestone-like malformation in patients with bi-allelic COL3A1mutations emphasises the critical role of the type III collagen–GPR56 axis and the pial membrane in the regulation of brain development and cortical lamination.

Published
2017
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39. Abnormal primary gyration in relation to deep brain injury in preterm infants.

Author

De Bisschop, Barbara, Camfferman, Fleur, Hengel‐Jacobs, Marjoleine, Delanghe, Gwenda, Vanderhasselt, Tim, Govaert, Paul, and van Hengel-Jacobs, Marjoleine

Subjects
PREMATURE infants, BRAIN injuries, NEWBORN infants, CEREBRAL sulci, PREMATURE labor
Abstract

The cerebral sulci and gyri develop in an orderly way following preterm birth, as demonstrated by foetal or serial post-natal imaging following preterm birth. In four infants born at 30-39 weeks, the central groove was divided without significant brain injury, but in three infants born at 24-28 weeks, the divided central groove overlaid a deep brain lesion. It remains unclear why these lesions divide the central groove, while similar lesions lead to polymicrogyria in other areas in extremely preterm infants. [Extracted from the article]

Published
2020
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