Results 131 to 140 of about 21,243 (259)

Corrigendum to: De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy [PDF]

open access: bronze, 2021
Riedhammer, Korbinian M.;Stockler, Sylvia;Ploski, Rafal;Wenzel, Maren;Adis-Dutschmann, Burkhard;Ahting, Uwe;Alhaddad, Bader;Blaschek, Astrid;Haack, Tobias B.;Kopajtich, Robert;Lee, Jessica;Pienkowski, Victor Murcia;Pollak, Agnieszka;Szymanska, Krystyna;Tarailo-Graovac, Maja;van der Lee, Robin;van Karnebeek, Clara D.;Meitinger, Thomas;Krageloh-Mann, Ingeborg;Vill, Katharina
openalex   +1 more source

Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy

open access: green, 2021
Guy Helman   +19 more
openalex   +2 more sources

Identification of a Novel Splicing Mutation in the ARSA Gene in a Patient with Late-infantile Form of Metachromatic Leukodystrophy

open access: hybrid, 2010
Dong‐Hee Kang   +7 more
openalex   +1 more source

Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary [PDF]

open access: gold, 2021
Z Szücs   +9 more
openalex   +1 more source

Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies

open access: yesCurrent Issues in Molecular Biology
Leukodystrophies represent a large and complex group of inherited disorders affecting the white matter of the central nervous system. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare leukodystrophy which still ...
Paulo de Lima Serrano   +13 more
doaj   +1 more source

F70 Metachromatic leukodystrophyに合併した胆道良性腫瘍の1例

open access: green, 1998
貴 久松   +3 more
openalex   +2 more sources

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access

open access: hybrid, 2022
Francesca Fumagalli   +47 more
openalex   +1 more source

Fibrinoid Leukodystrophy (Alexander's Disease-Like Disorder) in a Young Adult French Bulldog

open access: hybrid, 2010
Tsuyoshi Ito   +5 more
openalex   +2 more sources

Home - About - Disclaimer - Privacy