Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.
Melberg A et al.
Ajnr. American Journal of Neuroradiology, 2006
Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease.
De Stefano N et al.
Journal of Neurology, 2000
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