Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Eline M. Hamilton"'
Autor:
Hanna Mierzewska, Marjo S. van der Knaap, Jan A M Gerver, Reinoud J. B. J. Gemke, Sakkubai Naidu, Birgit I. Lissenberg-Witte, Charles Marques Lourenço, Eline M. Hamilton, Gerre Vermeulen, Henrica C.W. de Vet, Bernard M. J. Uitdehaag, Hannemieke D.W. van der Lei
Publikováno v:
Annals of Neurology. 84:274-288
OBJECTIVE: To comprehensively describe the natural history of Vanishing White Matter (VWM), aiming at improving counseling of patients/families and providing natural history data for future therapeutic trials. METHODS: We performed a longitudinal mul
Autor:
Huibert D. Mansvelder, Eline M. Hamilton, Rogier Min, Eelke Brouwers, Oliver Stiedl, Ursula Boschert, Henner Koch, Maarten H. P. Kole, Marianna Bugiani, Marjo S. van der Knaap, Robert C. Wykes, Mohit Dubey
Publikováno v:
Annals of Neurology. 83:636-649
OBJECTIVE: Loss of function of the astrocyte-specific protein MLC1 leads to the childhood-onset leukodystrophy "megalencephalic leukoencephalopathy with subcortical cysts" (MLC). Studies on isolated cells show a role for MLC1 in astrocyte volume regu
Autor:
Enrico Bertini, Lorenzo Pinelli, Marjo S. van der Knaap, Claudia M. Persoon, Truus E.M. Abbink, Adeline Vanderver, Barbara Plecko, Julian Curiel, Eline M. Hamilton, Luba Kalaydjieva, Judy S. Liu, Susan Blaser, Nathalie L. van der Meij, Bharti Morar, Nicole I. Wolf, Quinten Waisfisz, Daria Diodato, Dana Dojčaková
Publikováno v:
Neurology, 89(17), 1821-1828. American Academy of Neurology
Hamilton, E M C, Bertini, E, Kalaydjieva, L, Morar, B, Dojčáková, D, Liu, J, Vanderver, A, Curiel, J, Persoon, C M, Diodato, D, Pinelli, L, Van Der Meij, N L, Plecko, B, Blaser, S, Wolf, N I, Waisfisz, Q, Abbink, T E M & Van Der Knaap, M S 2017, ' UFM1 founder mutation in the Roma population causes recessive variant of H-ABC ', Neurology, vol. 89, no. 17, pp. 1821-1828 . https://doi.org/10.1212/WNL.0000000000004578
Neurology, 89(17), 1821-1828. Lippincott Williams and Wilkins
Neurology
Hamilton, E M C, Bertini, E, Kalaydjieva, L, Morar, B, Dojčáková, D, Liu, J, Vanderver, A, Curiel, J, Persoon, C M, Diodato, D, Pinelli, L, Van Der Meij, N L, Plecko, B, Blaser, S, Wolf, N I, Waisfisz, Q, Abbink, T E M & Van Der Knaap, M S 2017, ' UFM1 founder mutation in the Roma population causes recessive variant of H-ABC ', Neurology, vol. 89, no. 17, pp. 1821-1828 . https://doi.org/10.1212/WNL.0000000000004578
Neurology, 89(17), 1821-1828. Lippincott Williams and Wilkins
Neurology
Objective:To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations.Methods:We performed homozygosity mapping and whole exome sequencing (WES) to detect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d2644e5e74966c1252adbe9bc7ba401
https://research.vu.nl/en/publications/db23120d-576b-44cf-b659-82f0caf10534
https://research.vu.nl/en/publications/db23120d-576b-44cf-b659-82f0caf10534
Autor:
Benjamin Nota, Senay Ozturk, Eline M. Hamilton, Ernst Christensen, Marjo S. van der Knaap, Gajja S. Salomons, Edwin P. Kirk, Silvy J.M. van Dooren, Jolanta Sykut-Cegielska, Matilde R. Fernandez Ojeda, Cornelis Jakobs, Daoud Sie, Allan M. Lund
Publikováno v:
Nota, B, Hamilton, E M C, Sie, D L S, Ozturk, S, van Dooren, S J M, Ojeda, M R F, Jakobs, C A J M, Christensen, E, Kirk, E P, Sykut-Cegielska, J, Lund, A M, van der Knaap, M S & Salomons, G S 2013, ' Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing ', Journal of Medical Genetics, vol. 50, no. 11, pp. 754-759 . https://doi.org/10.1136/jmedgenet-2013-101961
Journal of Medical Genetics, 50(11), 754-759. BMJ Publishing Group
Journal of medical genetics, 50(11), 754-759. BMJ Publishing Group
Journal of Medical Genetics, 50(11), 754-759. BMJ Publishing Group
Journal of medical genetics, 50(11), 754-759. BMJ Publishing Group
Background Mosaic IDH1 mutations are described as the cause of metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate (MC-HGA), and mutations in IDH2 as the cause of D-2-hydroxyglutaric aciduria (D-2HGA) type II. Mosaicis
Publikováno v:
Hamilton, E M C, Wolf, N I & van der Knaap, M S 2015, ' Reply: A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited ', Brain, vol. 138, E371 . https://doi.org/10.1093/brain/awu404
Brain, 138:E371. Oxford University Press
Brain, 138(8). Oxford University Press
Brain, 138:E371. Oxford University Press
Brain, 138(8). Oxford University Press
Sir, We thank Dr Erro and colleagues (2014) for their interest in our overview paper on the clinical and genotypic spectrum in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC; Hamilton et al. , 2014 a ). In our c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7986f0b54e1855070c573ad119fd1568
https://research.vumc.nl/en/publications/6cf76c50-bf65-44bc-b061-dbb68f496bd7
https://research.vumc.nl/en/publications/6cf76c50-bf65-44bc-b061-dbb68f496bd7
Publikováno v:
Brain, 138:e328. Oxford University Press
Hamilton, E M C, Wolf, N I & van der Knaap, M S 2015, ' Reply: TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum ', Brain, vol. 138, e328 . https://doi.org/10.1093/brain/awu243
Hamilton, E M C, Wolf, N I & van der Knaap, M S 2015, ' Reply: TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum ', Brain, vol. 138, e328 . https://doi.org/10.1093/brain/awu243
Sir, We thank Dr Carvalho and colleagues for their insightful letter (Carvalho et al. , 2014), which compliments our recent paper on hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) (Hamilton et al. , 2014). The authors presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e59d1a268711c371e699fd9c0f27401
https://research.vu.nl/en/publications/ee7ced60-8660-49d3-9521-27bbdbfd3a3b
https://research.vu.nl/en/publications/ee7ced60-8660-49d3-9521-27bbdbfd3a3b
Autor:
H.D.W. van der Lei, Bernard M. J. Uitdehaag, Reinoud J. B. J. Gemke, M.S. van der Knaap, B.I. Witte, Eline M. Hamilton, R. de Vet
Publikováno v:
European Journal of Paediatric Neurology. 21:e163
Autor:
Thomas Meitinger, Nicole I. Wolf, Tim M. Strom, Raphael Schiffmann, Alison Colley, Enrico Baruffini, Eline M. Hamilton, Cristina Dallabona, Adeline Vanderver, Ileana Ferrero, Daniele Ghezzi, Helena Rocha, Truus E.M. Abbink, Marjo S. van der Knaap, Katrin Õunap, Tobias B. Haack, Massimo Zeviani, Costanza Lamperti, Laura Melchionda, Gajja S. Salomons, Caterina Mariotti, Ettore Salsano, Mario Savoiardo, Kim Chapman, Sietske H. Kevelam, Holger Prokisch, Lee-Jun C. Wong, Daria Diodato
Publikováno v:
Neurology 82, 2063-2071 (2014)
Neurology, 82(23), 2063-2071. American Academy of Neurology
Neurology, 82(23), 2063-2071. Lippincott Williams and Wilkins
Dallabona, C, Diodato, D, Kevelam, S H, Haack, T B, Wong, L J, Salomons, G S, Baruffini, E, Melchionda, L, Mariotti, C, Strom, T M, Meitinger, T, Prokisch, H, Chapman, K, Colley, A, Rocha, H, Ounap, K, Schiffmann, R, Salsano, E, Savoiardo, M, Hamilton, E M C, Abbink, G E M, Wolf, N I, Ferrero, I, Lamperti, C, Zeviani, M, Vanderver, A, Ghezzi, D & van der Knaap, M S 2014, ' Novel (ovario) leukodystrophy related to AARS2 mutations ', Neurology, vol. 82, no. 23, pp. 2063-2071 . https://doi.org/10.1212/WNL.0000000000000497
Neurology, 82(23), 2063-2071. American Academy of Neurology
Neurology, 82(23), 2063-2071. Lippincott Williams and Wilkins
Dallabona, C, Diodato, D, Kevelam, S H, Haack, T B, Wong, L J, Salomons, G S, Baruffini, E, Melchionda, L, Mariotti, C, Strom, T M, Meitinger, T, Prokisch, H, Chapman, K, Colley, A, Rocha, H, Ounap, K, Schiffmann, R, Salsano, E, Savoiardo, M, Hamilton, E M C, Abbink, G E M, Wolf, N I, Ferrero, I, Lamperti, C, Zeviani, M, Vanderver, A, Ghezzi, D & van der Knaap, M S 2014, ' Novel (ovario) leukodystrophy related to AARS2 mutations ', Neurology, vol. 82, no. 23, pp. 2063-2071 . https://doi.org/10.1212/WNL.0000000000000497
Objectives: The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype suggestive of a common genetic defect, based on clinical and MRI findings, and to identify the causal genetic defect shared
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55193fd95af1d17d800cb702813c2884
https://europepmc.org/articles/PMC4118500/
https://europepmc.org/articles/PMC4118500/
Publikováno v:
van der Knaap, M S, Hamilton, E M C & van Berge, L 2014, ' Reply: DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy ', Brain, vol. 137, no. 7, e290 . https://doi.org/10.1093/brain/awu135
Brain, 137(7):e290. Oxford University Press
Brain, 137(7):e290. Oxford University Press
Sir, We thank Drs Bocca Vieira de Rezende Pinto and Sgobbi de Souza for their interest in our recent overview paper on a cohort of patients with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), caused by DA
Autor:
Truus Em Abbink, Marjan E. Steenweg, M.S. van der Knaap, Eline M. Hamilton, G.C. Scheper, L. van Berge
Publikováno v:
Neuropediatrics. 44