Works matching DE "METACHROMATIC leukodystrophy"

Results: 167
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    Intrathecal baclofen in metachromatic leukodystrophy.

    Published in:
    2019
    By:
    • Veldt, Nikki;
    • Rappard, Diane F;
    • Pol, Laura A;
    • Knaap, Marjo S;
    • Ouwerkerk, Willem J R;
    • Becher, Jules G;
    • Wolf, Nicole I;
    • Buizer, Annemieke I;
    • van der Veldt, Nikki;
    • van Rappard, Diane F;
    • van de Pol, Laura A;
    • van der Knaap, Marjo S;
    • van Ouwerkerk, Willem J R
    Publication type:
    Case Study
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    PLP1 gene analysis in 88 patients with leukodystrophy.

    Published in:
    Clinical Genetics, 2013, v. 84, n. 6, p. 566, doi. 10.1111/cge.12103
    By:
    • Martínez-Montero, P;
    • Muñoz-Calero, M;
    • Vallespín, E;
    • Campistol, J;
    • Martorell, L;
    • Ruiz-Falcó, MJ;
    • Santana, A;
    • Pons, R;
    • Dinopoulos, A;
    • Sierra, C;
    • Nevado, J;
    • Molano, J
    Publication type:
    Article
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    Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case.

    Published in:
    Psychiatry & Clinical Neurosciences, 2011, v. 65, n. 1, p. 105, doi. 10.1111/j.1440-1819.2010.02169.x
    By:
    • Hayashi, Takehiro;
    • Nakamura, Masayuki;
    • Ichiba, Mio;
    • Matsuda, Mieko;
    • Kato, Maiko;
    • Shiokawa, Nari;
    • Shimo, Hirochika;
    • Tomiyasu, Akiyuki;
    • Mori, Satsuki;
    • Tomiyasu, Yoko;
    • Ishizuka, Takanori;
    • Inamori, Yukie;
    • Okamoto, Yuji;
    • Umehara, Fujio;
    • Arimura, Kimiyoshi;
    • Nakabeppu, Yoshiaki;
    • Sano, Akira
    Publication type:
    Article
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    Increasing Sulfatide Synthesis in Myelin-Forming Cells of Arylsulfatase A-Deficient Mice Causes Demyelination and Neurological Symptoms Reminiscent of Human Metachromatic Leukodystrophy.

    Published in:
    Journal of Neuroscience, 2007, v. 27, n. 35, p. 9482, doi. 10.1523/JNEUROSCI.2287-07.2007
    By:
    • Ramakrishnan, Hariharasubramanian;
    • Khalaj Hedayati, Kerstin;
    • Lüllmann-Rauch, Renate;
    • Wessig, Carsten;
    • Ngamli Fewou, Simon;
    • Maier, Helena;
    • Goebel, Hans-Hilmar;
    • Gieselmann, Volkmar;
    • Eckhardt, Matthias
    Publication type:
    Article
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    C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

    Published in:
    Nature Genetics, 2007, v. 39, n. 9, p. 1068, doi. 10.1038/ng2082
    By:
    • Richards, Anna;
    • van den Maagdenberg, Arn M. J. M.;
    • Jen, Joanna C.;
    • Kavanagh, David;
    • Bertram, Paula;
    • Spitzer, Dirk;
    • Liszewski, M. Kathryn;
    • Barilla-LaBarca, Maria-Louise;
    • Terwindt, Gisela M.;
    • Kasai, Yumi;
    • McLellan, Mike;
    • Grand, Mark Gilbert;
    • Vanmolkot, Kaate R. J.;
    • de Vries, Boukje;
    • Jijun Wan;
    • Kane, Michael J.;
    • Mamsa, Hafsa;
    • Schäfer, Ruth;
    • Stam, Anine H.;
    • Haan, Joost
    Publication type:
    Article
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