Zobrazeno 1 - 10
of 83
pro vyhledávání: '"NERVOUS-SYSTEM HYPOMYELINATION"'
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Leukodystrophies are a group of heterogeneous disorders affecting brain myelin. Among those, childhood ataxia with central nervous system hypomyelination/vanishing white matter (CACH/VWM) is one of the more common inherited leukodystrophies. Pathogen
Externí odkaz:
https://doaj.org/article/47f99a2f404a442693dd870b57dc0684
Autor:
Denny Mathew, Nasreen Mahomed
Publikováno v:
South African Journal of Radiology, Vol 23, Iss 1, Pp e1-e4 (2019)
Childhood ataxia and central nervous system hypomyelination (CACH), also known as ‘vanishing white matter disease’ (VWM), is a leukoencephalopathy with autosomal recessive inheritance. It is characterised by normal psychomotor development initial
Externí odkaz:
https://doaj.org/article/babfa4f07b834662b267770d8e608da3
Akademický článek
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Autor:
Nasreen Mahomed, Denny Mathew
Publikováno v:
SA Journal of Radiology, Volume: 23, Issue: 1, Pages: 1-4, Published: 2019
SA Journal of Radiology
SA Journal of Radiology; Vol 23, No 1 (2019)
South African Journal of Radiology, Vol 23, Iss 1, Pp e1-e4 (2019)
SA Journal of Radiology
SA Journal of Radiology; Vol 23, No 1 (2019)
South African Journal of Radiology, Vol 23, Iss 1, Pp e1-e4 (2019)
Childhood ataxia and central nervous system hypomyelination (CACH), also known as ‘vanishing white matter disease’ (VWM), is a leukoencephalopathy with autosomal recessive inheritance. It is characterised by normal psychomotor development initial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab6989250aa727b4f0856a40af8b9ab8
http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S2078-67782019000100006&lng=en&tlng=en
http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S2078-67782019000100006&lng=en&tlng=en
Autor:
Klok, Melanie D, Bugiani, Marianna, de Vries, Sharon I, Gerritsen, Wouter, Breur, Marjolein, van der Sluis, Sophie, Heine, Vivi M, Kole, Maarten H P, Baron, Wia, van der Knaap, Marjo S, Sub Cell Biology, Celbiologie
Publikováno v:
Annals of Clinical and Translational Neurology, 5(4), 429-444. John Wiley and Sons Ltd
Klok, M D, Bugiani, M, de Vries, S I, Gerritsen, W, Breur, M, van der Sluis, S, Heine, V M, Kole, M H P, Baron, W & van der Knaap, M S 2018, ' Axonal abnormalities in vanishing white matter ', Annals of Clinical and Translational Neurology, vol. 5, no. 4, pp. 429-444 . https://doi.org/10.1002/acn3.540
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 5(4), 429. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology, 5, 429-444. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology, 5(4), 429-444. Wiley
Klok, M D, Bugiani, M, de Vries, S I, Gerritsen, W, Breur, M, van der Sluis, S, Heine, V M, Kole, M H P, Baron, W & van der Knaap, M S 2018, ' Axonal abnormalities in vanishing white matter ', Annals of Clinical and Translational Neurology, vol. 5, no. 4, pp. 429-444 . https://doi.org/10.1002/acn3.540
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 5(4), 429. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology, 5, 429-444. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology, 5(4), 429-444. Wiley
ObjectiveWe aimed to study the occurrence and development of axonal pathology and the influence of astrocytes in vanishing white matter.MethodsAxons and myelin were analyzed using electron microscopy and immunohistochemistry on Eif2b4 and Eif2b5 sing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::855ea71d8931e8ae03ad2c52180024f3
https://research.vu.nl/en/publications/82d94e51-f675-4a09-916f-652205d327d3
https://research.vu.nl/en/publications/82d94e51-f675-4a09-916f-652205d327d3
Publikováno v:
Neurology. 48(4):845-855
We identified nine children with a leukoencephalopathy of similar type according to clinical and MRI findings. The patients included three affected sibling pairs. The age range was 3 to 19 years. The onset of the disease was in childhood; the course
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___00893::55bd533bcd4a81303457f3fdd3d3df95
https://hdl.handle.net/11370/ab5e45b3-e0a6-48ac-b33d-9bed6f5a4869
https://hdl.handle.net/11370/ab5e45b3-e0a6-48ac-b33d-9bed6f5a4869
Publikováno v:
Journal of Pediatric Neurosciences
A 4-year-old boy presented with loss of motor milestones following viral fever. On examination, the child had increased tone and exaggerated deep tendon reflexes. Magnetic resonance imaging of the brain showed white matter hyperintensities on T2-weig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b28a8f6e0a5553f34e88c22b43de3f
https://doi.org/10.4103/jpn.jpn_183_16
https://doi.org/10.4103/jpn.jpn_183_16
Akademický článek
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Akademický článek
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Autor:
J. Valk, Hans Stroink, Fons J. M. Gabreëls, Emilio Franzoni, Peter G. Barth, M.S. van der Knaap, Joost Rotteveel, J. H. Begeer
Publikováno v:
Neurology, 48, 845-855. Lippincott Williams & Wilkins
Neurology, 48(4), 845-855. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 48, 845-855
Scopus-Elsevier
Neurology, 48, 4, pp. 845-855
Van Der Knaap, M S, Barth, P G, Gabreëls, F J M, Franzoni, E, Begeer, J H, Stroink, H, Rotteveel, J J & Valk, J 1997, ' A new leukoencephalopathy with vanishing white matter ', Neurology, vol. 48, no. 4, pp. 845-855 . https://doi.org/10.1212/wnl.48.4.845
Neurology, 48, pp. 845-855
Neurology, 48(4), 845-855. Lippincott Williams and Wilkins
Neurology, 48(4), 845-855. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 48, 845-855
Scopus-Elsevier
Neurology, 48, 4, pp. 845-855
Van Der Knaap, M S, Barth, P G, Gabreëls, F J M, Franzoni, E, Begeer, J H, Stroink, H, Rotteveel, J J & Valk, J 1997, ' A new leukoencephalopathy with vanishing white matter ', Neurology, vol. 48, no. 4, pp. 845-855 . https://doi.org/10.1212/wnl.48.4.845
Neurology, 48, pp. 845-855
Neurology, 48(4), 845-855. Lippincott Williams and Wilkins
We identified nine children with a leukoencephalopathy of similar type according to clinical and MRI findings. The patients included three affected sibling pairs. The age range was 3 to 19 years. The onset of the disease was in childhood; the course
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c089a713f52d982800bf83a48c55389
https://dare.uva.nl/personal/pure/en/publications/a-new-leukoencephalopathy-with-vanishing-white-matter(3c7cb194-5a5b-4f1d-a8e2-65d4318398df).html
https://dare.uva.nl/personal/pure/en/publications/a-new-leukoencephalopathy-with-vanishing-white-matter(3c7cb194-5a5b-4f1d-a8e2-65d4318398df).html