Results 211 to 220 of about 24,692 (277)

Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy. [PDF]

Brain Commun
Yska HAF, Stellingwerff MD, Roosendaal SD, Voermans MMC, van der Knaap MS, Pouwels PJW, Engelen M.   +6 more
europepmc   +1 more source

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

Leukodystrophies

, 2019
openaire   +2 more sources

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

Frontiers in Neurology, 2023
RNA polymerase III-related leukodystrophy (POLR3-related leukodystrophy) is a rare, genetically determined hypomyelinating disease arising from biallelic pathogenic variants in genes encoding subunits of RNA polymerase III (Pol III).
Julia Macintosh, Stefanie Perrier, Maxime Pinard   +2 more
exaly   +2 more sources

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Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients

Journal of Inherited Metabolic Disease, 2021
In this study, we characterize the natural course of metachromatic leukodystrophy (MLD), explore intra/inter group differences, and identify biomarkers to monitor disease progression. This is a longitudinal observational study.
F. Fumagalli, A. Zambon, P. Rancoita, C. Baldoli, Sabrina Canale, I. Spiga, S. Medaglini, Rachele Penati, M. Facchini, F. Ciotti, M. Sarzana, L. Lorioli, M. Cesani, M. G. Sora, U. Del Carro, F. Cugnata, G. Antonioli, S. Recupero, Valeria Calbi, C. Di Serio, A. Aiuti, A. Biffi, M. Sessa   +22 more
semanticscholar   +1 more source

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

Lancet, The, 2016
BACKGROUND Metachromatic leukodystrophy (a deficiency of arylsulfatase A [ARSA]) is a fatal demyelinating lysosomal disease with no approved treatment.
Maria Sessa, Laura Lorioli, Francesca Fumagalli   +2 more
exaly   +2 more sources