Results 201 to 210 of about 21,243 (259)

Late Infantile Type of Metachromatic Leukodystrophy Caused by Novel Combination of Heterozygous Arsa Mutations

, 2018
Ivana Kavečan
openalex   +2 more sources

Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of <i>LMNB1</i>-Related Autosomal Dominant Leukodystrophy. [PDF]

Neurol Genet
Dhamija R, Tobin WO, Cortelli P, Padiath Q, Muthusamy K, Singh Sekhon UD, Singh BJ, Harris D, Billings H, Mamillo K, Appleberry H, Giorgio E, Ratti S, Fogel BL, Gavrilova R, Raininko R, Cousin MA.   +16 more
europepmc   +1 more source

Diagnosing Alexander disease in adults. [PDF]

Pract Neurol
Lynch DS, Wade C, Carlson AK, Barkhof F, Yoshida T, Collins A, Edwards MR, Waldman AT.   +7 more
europepmc   +1 more source

Significance of a Higher-Than-Expected Resonance at a 2.02 ppm Chemical Shift on 1H-Magnetic Resonance Spectroscopy (1H-MRS) in Neuroimaging. [PDF]

Cureus
Jabeen S, Chauhan RS, Shankar M P S, Kulanthaivelu K, Prasad C, Bhat MD, Hanagandi P, Srinivas D.   +7 more
europepmc   +1 more source

Cell-specific Eif2b5 mutant mice: novel insights into roles of macroglia in vanishing white matter. [PDF]

Brain
Triñanes-Ramos J, Bugiani M, van Rooijen-van Leeuwen GM, Chevalier JA, Siu YJ, van Utenhove ELH, Hoogterp L, Witkamp D, Oudejans E, Lodder B, Kole MHP, Saher G, Nave KA, Abbink TEM, van der Knaap MS.   +14 more
europepmc   +1 more source

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

Cost-Effectiveness of Newborn Screening for X-Linked Adrenoleukodystrophy in the Netherlands: A Health-Economic Modelling Study. [PDF]

Int J Neonatal Screen
Martens RC, Broulikova HM, Engelen M, Kemp S, Boelen A, de Jonge R, Bosmans JE, Heijboer AC.   +7 more
europepmc   +1 more source

Improving quality of life in rare diseases using disease-specific, multidisciplinary online interventions on the example of rare X-linked adrenoleukodystrophy: a randomized-controlled trial. [PDF]

Ther Adv Neurol Disord
Schäfer L, Unterlauft A, Froebrich-Andreß B, Wollny C, Rößler M, Fischer R, Bähr C, Lier J, Wasmus DT, Bergner CC, Köhler W.   +10 more
europepmc   +1 more source

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions. [PDF]

Neurology
Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A, Wolf NI.   +29 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