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Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
Overwater IE, Swenker R, van der Ende EL, Hanemaayer KB, Hoogeveen-Westerveld M, van Eeghen AM, Lequin MH, van den Ouweland AM, Moll HA, Nellist M, de Wit MY. Overwater IE, et al. Among authors: lequin mh. Eur J Hum Genet. 2016 Dec;24(12):1688-1695. doi: 10.1038/ejhg.2016.85. Epub 2016 Jul 13. Eur J Hum Genet. 2016. PMID: 27406250 Free PMC article.
Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex.
Hulshof HM, Slot EMH, Lequin M, Breuillard D, Boddaert N, Jozwiak S, Kotulska K, Riney K, Feucht M, Samueli S, Scholl T, Krsek P, Benova B, Braun KPJ, Jansen FE, Nabbout R; EPISTOP consortium. Hulshof HM, et al. J Pediatr. 2021 Jun;233:156-162.e2. doi: 10.1016/j.jpeds.2021.02.060. Epub 2021 Feb 26. J Pediatr. 2021. PMID: 33640330 Free article.
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex.
Hulshof HM, Kuijf HJ, Kotulska K, Curatolo P, Weschke B, Riney K, Krsek P, Feucht M, Nabbout R, Lagae L, Jansen A, Otte WM, Lequin MH, Sijko K, Benvenuto A, Hertzberg C, Benova B, Scholl T, De Ridder J, Aronica EMA, Kwiatkowski DJ, Jozwiak S, Jurkiewicz E, Braun K, Jansen FE; EPISTOP consortium. Hulshof HM, et al. Among authors: lequin mh. Neurology. 2022 Mar 22;98(12):e1216-e1225. doi: 10.1212/WNL.0000000000200027. Epub 2022 Jan 31. Neurology. 2022. PMID: 35101906
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.
Vandervore LV, Schot R, Hoogeboom AJM, Lincke C, de Coo IF, Lequin MH, Dremmen M, van Unen LMA, Saris JJ, Jansen AC, van Slegtenhorst MA, Wilke M, Mancini GMS. Vandervore LV, et al. Among authors: lequin mh. Eur J Med Genet. 2018 Dec;61(12):783-789. doi: 10.1016/j.ejmg.2018.10.018. Epub 2018 Oct 31. Eur J Med Genet. 2018. PMID: 30391508
Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex.
Stevering C, Lequin M, Szczepaniak K, Sadowski K, Ishrat S, De Luca A, Leemans A, Otte W, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen A, Wojdan K, Sijko K, Glowacka-Walas J, Borkowska J, Domanska-Pakiela D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Petrák B, Maminak M, Aronica E, De Ridder J, Lagae L, Jozwiak S, Kotulska K, Braun K, Jansen F. Stevering C, et al. Epilepsia. 2024 Dec 6. doi: 10.1111/epi.18190. Online ahead of print. Epilepsia. 2024. PMID: 39641935
RTTN mutations link primary cilia function to organization of the human cerebral cortex.
Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, Brehm A, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, Mancini GM. Kheradmand Kia S, et al. Among authors: lequin mh. Am J Hum Genet. 2012 Sep 7;91(3):533-40. doi: 10.1016/j.ajhg.2012.07.008. Epub 2012 Aug 30. Am J Hum Genet. 2012. PMID: 22939636 Free PMC article.
271 results