Publications by authors named "Filip Roelens"

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Seizure quantification in sunflower syndrome by a wrist-worn device.
Jo Sourbron, Renee Proost, Jan Vandenneucker, Valentina Ticcinelli, Filip Roelens

Epileptic Disord· April 2025

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The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study.
Liene Thys, Diane Beysen, Berten Ceulemans, Sandra Kenis, Charlotte Dielman, Filip Roelens

Pediatr Neurol· December 2024

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Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
Leslie Naesens, Josephine Nemegeer, Filip Roelens, Lore Vallaeys, Marije Meuwissen

J Clin Immunol· July 2022

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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Sathiya N Manivannan, Jolien Roovers, Noor Smal, Candace T Myers, Dilsad Turkdogan, Filip Roelens

Brain· June 2022

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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Laura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, Roser Pons, Anastasia Skouma, Filip Roelens

J Inherit Metab Dis· March 2021

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De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Francesca Cristofoli, Tonya Moss, Hannah W Moore, Koen Devriendt, Heather Flanagan-Steet, Filip Roelens

Am J Hum Genet· October 2020

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Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, Diana Rodriguez, Rabab Debs, Filip Roelens

JAMA Neurol· April 2018

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mutation in three siblings with familial hereditary spastic paraplegia.
Leila Dardour, Filip Roelens, Valerie Race, Erika Souche, Maureen Holvoet

Cold Spring Harb Mol Case Stud· July 2017

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Bi-allelic variants in encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
Laura Vandervore, Katrien Stouffs, Ibrahim Tanyalçin, Tim Vanderhasselt, Filip Roelens

J Med Genet· June 2017

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Filip Roelens

Nat Genet· January 2017

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Redefining the MED13L syndrome.
Abidemi Adegbola, Luciana Musante, Bert Callewaert, Patricia Maciel, Hao Hu, Filip Roelens

Eur J Hum Genet· October 2015

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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
Nina De Rocker, Sarah Vergult, David Koolen, Eva Jacobs, Alexander Hoischen, Filip Roelens

Genet Med· June 2015

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De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
Nathalie Fieremans, Marijke Bauters, Stefanie Belet, Jelle Verbeeck, Anna C Jansen, Filip Roelens

Hum Genet· November 2014

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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
Sarah Vergult, Ellen Van Binsbergen, Tom Sante, Silke Nowak, Olivier Vanakker, Filip Roelens

Eur J Hum Genet· May 2014

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PRRT2 mutations: exploring the phenotypical boundaries.
Tania Djémié, Sarah Weckhuysen, Philip Holmgren, Katia Hardies, Tine Van Dyck, Filip Roelens

J Neurol Neurosurg Psychiatry· April 2014

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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, Dominique Audenaert, Tine Deconinck, Filip Roelens

Ann Neurol· January 2012

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Neuromyelitis optica-IgG+ optic neuritis associated with celiac disease and dysgammaglobulinemia: a role for tacrolimus?
Isabelle Meyts, Katrien Jansen, Marleen Renard, Xavier Bossuyt, Filip Roelens

Eur J Paediatr Neurol· May 2011

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Early onset collagen VI myopathies: Genetic and clinical correlations.
Laura Briñas, Pascale Richard, Susana Quijano-Roy, Corine Gartioux, Céline Ledeuil, Filip Roelens

Ann Neurol· October 2010

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Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
Ute Moog, Filip Roelens, Geert R Mortier, Han Sijstermans, Mary Kelly

Am J Med Genet A· December 2007

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MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Kristien Verhoeven, Kristl G Claeys, Stephan Züchner, J Michael Schröder, Joachim Weis, Filip Roelens

Brain· August 2006

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Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Betti Giusti, Laura Lucarini, Valentina Pietroni, Simona Lucioli, Brunella Bandinelli, Filip Roelens

Ann Neurol· September 2005

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