Zobrazeno 1 - 10
of 635
pro vyhledávání: '"van der Knaap MS"'
Publikováno v:
Min, R, Depienne, C, Sedel, F, Abbink, GEM & van der Knaap, MS 2021, CLCN2-Related Leukoencephalopathy . in GeneReviews .
GeneReviews
GeneReviews
Clinical characteristicsCLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. Neurologic find
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::653050f60c253ebcca8db44c3ebdd15e
https://research.vu.nl/en/publications/ec3bd011-bb2a-4e03-8af6-d138e7a17fbd
https://research.vu.nl/en/publications/ec3bd011-bb2a-4e03-8af6-d138e7a17fbd
Autor:
Vivi M. Heine, Kyoko Watanabe, van der Knaap Ms, Lisa Gasparotto, Paulien Cornelissen-Steijger, Gerbren Jacobs, Anne E. J. Hillen, Prisca S. Leferink, Stephanie Dooves
Astrocytes gained attention as important players in neurological disease, including a number of leukodystrophies. Several studies explored the generation of induced pluripotent stem cell-derived astrocytes for drug screening and regenerative studies.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae670f4ba22d2ab4a426296096bdcac9
Publikováno v:
van der Knaap, MS, Abbink, GEM & Min, R 2018, Megalencephalic Leukoencephalopathy with Subcortical Cysts . in GeneReviews .
GeneReviews
GeneReviews
Clinical characteristicsThe classic phenotype of megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by early-onset macrocephaly, often in combination with mild gross motor developmental delay and seizures; gradual onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::47a4283af0c00f4a7d4e51db5d6ed589
https://hdl.handle.net/1871.1/dbb245b0-fb3c-4214-92f4-9e2f30250171
https://hdl.handle.net/1871.1/dbb245b0-fb3c-4214-92f4-9e2f30250171
Autor:
Tavasoli A, Armangue-Salvador T, Ho CY, Whitehead M, Bornhorst M, Rhee J, Hwang EI, Wells EM, Packer R, van der Knaap MS, Bugiani M, Vanderver A
Publikováno v:
JOURNAL OF CHILD NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::03f5fb4809c0602f16cf728404aee67d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10704
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10704
Publikováno v:
Nahhas, N, Conant, A, Hamilton, EMC, Curiel, J, Simons, C, van der Knaap, MS & Vanderver, A 2016, TUBB4A-Related Leukodystrophy . in RA Pagon, MP Adam, HH Ardinger & E A (eds), GeneReviews® [Internet] . vol. 1993-2017, University of Washington, Seattle, Seattle (WA), USA . < https://www.ncbi.nlm.nih.gov/books/NBK395611/ >
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10172::3690c59bbbd59056f75c5ebc395aa9e2
https://research.vumc.nl/en/publications/c2d71a53-2f87-4aa1-a88e-31a8b682cbe2
https://research.vumc.nl/en/publications/c2d71a53-2f87-4aa1-a88e-31a8b682cbe2
Publikováno v:
Inherited Metabolic Disease in Adults: A Clinical Guide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::e20440235422e797f88be801efd74957
https://research.vumc.nl/en/publications/c1d41a12-80c0-4a93-bad3-64ad91e246ce
https://research.vumc.nl/en/publications/c1d41a12-80c0-4a93-bad3-64ad91e246ce
Autor:
Hamilton, Em, Polder, E, Vanderver, A, Naidu, S, Schiffmann, R, Fisher, K, Raguz, Ab, Blumkin, L, H-ABC Research Group, Battini, R, Van Berkel CG, Waisfisz, Q, Simons, C, Taft, Rj, Abbink, Te, Wolf, Ni, Van Der Knaap MS
Publikováno v:
Brain, 137, 1921-1930. Oxford University Press
Hamilton, E M C, Polder, E, Vanderver, A, Naidu, S, Schiffmann, R, Fisher, K, Raguz, A B, Blumkin, L, van Berkel, C G M, Waisfisz, Q, Simons, C, Taft, R J, Abbink, G E M, Wolf, N I & van der Knaap, M S 2014, ' Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation ', Brain, vol. 137, pp. 1921-1930 . https://doi.org/10.1093/brain/awu110
Hamilton, E M C, Polder, E, Vanderver, A, Naidu, S, Schiffmann, R, Fisher, K, Raguz, A B, Blumkin, L, van Berkel, C G M, Waisfisz, Q, Simons, C, Taft, R J, Abbink, G E M, Wolf, N I & van der Knaap, M S 2014, ' Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation ', Brain, vol. 137, pp. 1921-1930 . https://doi.org/10.1093/brain/awu110
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing of 11 patients with the disease revealed that they all had th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef6647507c694811c8414282d539971
https://europepmc.org/articles/PMC4345790/
https://europepmc.org/articles/PMC4345790/
Autor:
Denora, Ps, Schlesinger, D, Casali, Carlo, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, Mt, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, DI ROCCO, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, DE LEVA MF, BOESPFLUG TANGUY, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, Flavia, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, DI FABIO, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, Della, Giustina, E, Calabrese, O, Melone, Ma, DE MICHELE, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, VAN DER KNAAP MS, Zatz, M, Filla, A, Brice, A, Stevanin, G, Santorelli, Fm
Publikováno v:
Human Mutation, 30(3), E500-E519. Wiley-Liss Inc.
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Denora, P S, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, M T, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, M F, Boespflug-Tanguy, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, F, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, Di Fabio, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, la Giustina, E, Calabrese, O, Melone, M A B, De Michele, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, M S, Zatz, M, Filla, A, Brice, A, Stevanin, G & Santorelli, F M 2009, ' Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion ', Human Mutation, vol. 30, no. 3, pp. E500-E519 . https://doi.org/10.1002/humu.20945
Human mutation, 30(3), E500-E519. Wiley-Liss Inc.
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Denora, P S, Schlesinger, D, Casali, C, Kok, F, Tessa, A, Boukhris, A, Azzedine, H, Dotti, M T, Bruno, C, Truchetto, J, Biancheri, R, Fedirko, E, Di Rocco, M, Bueno, C, Malandrini, A, Battini, R, Sickl, E, de Leva, M F, Boespflug-Tanguy, O, Silvestri, G, Simonati, A, Said, E, Ferbert, A, Criscuolo, C, Heinimann, K, Modoni, A, Weber, P, Palmeri, S, Plasilova, M, Pauri, F, Cassandrini, D, Battisti, C, Pini, A, Tosetti, M, Hauser, E, Masciullo, M, Di Fabio, R, Piccolo, F, Denis, E, Cioni, G, Massa, R, la Giustina, E, Calabrese, O, Melone, M A B, De Michele, G, Federico, A, Bertini, E, Durr, A, Brockmann, K, van der Knaap, M S, Zatz, M, Filla, A, Brice, A, Stevanin, G & Santorelli, F M 2009, ' Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion ', Human Mutation, vol. 30, no. 3, pp. E500-E519 . https://doi.org/10.1002/humu.20945
Human mutation, 30(3), E500-E519. Wiley-Liss Inc.
Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a6ba3c03e72db209b2dcfa43f19a30e
http://hdl.handle.net/2108/39066
http://hdl.handle.net/2108/39066
Autor:
Mejaški-Bošnjak, Vlatka, Đaković, Ivana, Scheper, GC, van der Knaap, MS, Grmoja, Tonči, Gojmerac, Tomislav
Vanishing White Matter Disease (VWMD) jedna je od najčešćih nasljednih bolesti bijele tvari u djece. Bolest ima vrlo široki raspon fenotipskih obilježja kao i težine kliničke slike. Klasični i najčešći tip bolesti javlja se u dobi između
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::e77678884350a507b20fce34ef0072cf
https://www.bib.irb.hr/450659
https://www.bib.irb.hr/450659
Autor:
Mejaški-Bošnjak, Vlatka, Lujić, Lucija, Fumić, Ksenija, Rešić, Biserka, Krakar, Goran, Lončarević, Damir, van der Knaap, MS
L-2-gidroksiglutarična acidurija (L2HGA) je nasljedna metabolička bolest koja pogađa isključivo CNS. Karakterizira ju usporen psihomotorni razvoj u dojenačkoj dobi, a kasnije mentalna retardacija, motorička disfunkcija, piramidni i ekstrapirami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::f7fc8c49d5ee695bd4772a6369a3c35b
https://www.bib.irb.hr/346438
https://www.bib.irb.hr/346438