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Works matching DE "GENETICS of leukodystrophy"

Results: 5

1

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 89, doi. 10.1007/s00439-015-1617-7

By:

Arai-Ichinoi, Natsuko;
Uematsu, Mitsugu;
Sato, Ryo;
Suzuki, Tasuku;
Kudo, Hiroki;
Kikuchi, Atsuo;
Hino-Fukuyo, Naomi;
Matsumoto, Mitsuyo;
Igarashi, Kazuhiko;
Haginoya, Kazuhiro;
Kure, Shigeo

Publication type:

Article

2

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Published in:

2015

By:

Battini, Roberta;
Bertelloni, Silvano;
Astrea, Guja;
Casarano, Manuela;
Travaglini, Lorena;
Baroncelli, Giampiero;
Pasquariello, Rosa;
Bertini, Enrico;
Cioni, Giovanni

Publication type:

Case Study

3

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Published in:

Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z

By:

Torraco, Alessandra;
Ardissone, Anna;
Invernizzi, Federica;
Rizza, Teresa;
Fiermonte, Giuseppe;
Niceta, Marcello;
Zanetti, Nadia;
Martinelli, Diego;
Vozza, Angelo;
Verrigni, Daniela;
Nottia, Michela;
Lamantea, Eleonora;
Diodato, Daria;
Tartaglia, Marco;
Dionisi-Vici, Carlo;
Moroni, Isabella;
Farina, Laura;
Bertini, Enrico;
Ghezzi, Daniele;
Carrozzo, Rosalba

Publication type:

Article

4

Elevated In Vivo Levels of a Single Transcription Factor Directly Convert Satellite Glia into Oligodendrocyte-like Cells.

Published in:

PLoS Genetics, 2015, v. 11, n. 2, p. 1, doi. 10.1371/journal.pgen.1005008

By:

Weider, Matthias;
Wegener, Amélie;
Schmitt, Christian;
Küspert, Melanie;
Hillgärtner, Simone;
Bösl, Michael R.;
Hermans-Borgmeyer, Irm;
Nait-Oumesmar, Brahim;
Wegner, Michael

Publication type:

Article

5

Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations.

Published in:

Therapeutics & Clinical Risk Management, 2017, v. 13, p. 725, doi. 10.2147/TCRM.S119967

By:

Manshadi, Masoumeh Dehghan;
Kamalidehghan, Behnam;
Aryani, Omid;
Khalili, Elham;
Dadgar, Sepideh;
Tondar, Mahdi;
Ahmadipour, Fatemeh;
Goh Yong Meng;
Houshmand, Massoud

Publication type:

Article