Results 91 to 100 of about 3,164 (162)

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

Cognitive and intellectual functioning in leukodystrophy patients: a systematic review. [PDF]

Orphanet J Rare Dis
Grol WHM, van der Knaap MS, Wolf NI, Geurtsen GJ.   +3 more
europepmc   +1 more source

PET Beta-Amyloid Tracer Uptake in Leukoencephalopathies: Comparing Metachromatic Leukodystrophy and CADASIL. [PDF]

Eur J Neurol
Benzoni C, Moscatelli M, Bersano A, Del Sole A, Salsano E.   +4 more
europepmc   +1 more source

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy. [PDF]

J Inherit Metab Dis
Beerepoot S, Schoenmakers DH, Fumagalli F, Groeschel S, Schöls L, Schiffmann R, Wong S, Boespflug-Tanguy O, Sevin C, Nadjar Y, Bley A, Mochel F, Horn MA, Baldoli C, Locatelli S, Hengel H, Laugwitz L, Hollak CEM, Gieselmann V, van der Knaap MS, Wolf NI.   +20 more
europepmc   +1 more source

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family. [PDF]

Neurogenetics
Maiga AB, Arama A, Yalcouyé A, Albakaye M, Weizhen J, Bamba S, Traoré O, Sangaré M, Kotioumbé M, Djimdé SO, Goita MK, Diarra S, Khokha MK, Lakhani SA, Landouré G.   +14 more
europepmc   +1 more source

Reactions, Adaptation, and Support Needs of Siblings of Children with a Life-Limiting Disease: The Parents' Experiences. [PDF]

Children (Basel)
Vatne TM, Pedersen EO, Lie HC.
europepmc   +1 more source

Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials. [PDF]

Neurotherapeutics
D'Silva A, Barnes J, Djafar J, Bhattacharya K, Yan J, Mohammad S, Bandodkar S, Johnson A, Tchan M, Miteff C, Elvidge KL, Dale RC, Farrar M.   +12 more
europepmc   +1 more source

Ex Vivo Gene and Cell Therapy in Hematopoietic Stem Cells. [PDF]

Int J Mol Sci
Petrova IO, Smirnikhina SA.
europepmc   +1 more source

Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach. [PDF]

J Inherit Metab Dis
Mohajer A, Sevagamoorthy A, Bean K, Mutua S, Pang F, Adang LA.   +5 more
europepmc   +1 more source

A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms. [PDF]

NPJ Genom Med
Chapleau A, Perrier S, Durcan TM, Bernard G.   +3 more
europepmc   +1 more source