Results 211 to 220 of about 21,243 (259)

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs. [PDF]

Int J Mol Sci
Saleh MA, Boichuck M, Ottolenghi A, Rabinski T, Goldenthal O, Sanchez DS, Fattal-Valevski A, Heimer G, Ben-Shachar S, Libzon S, Gershoni-Yahalom O, Ben-Zvi A, Zarivach R, Zerem A, Rosental B, Vatine GD.   +15 more
europepmc   +1 more source

A cohort of allogeneic hematopoietic stem cell transplantation for pediatric rare diseases (allo-HSCT-PRD): design and preliminary results. [PDF]

Ann Hematol
Hu S, Wang P, Li Z, Jiang W, Liu L, Ma W, Huang Y, Wang X, Du X, Qian X, Wang H, Wang Y, Zhang Y, Zhai X.   +13 more
europepmc   +1 more source

Glial Ion Channels in Myelin Pathophysiology: Insights from Leukodystrophies. [PDF]

Life (Basel)
Belfiore M, Visentin S, Ambrosini E.
europepmc   +1 more source

Atypical Presentation of an <i>LMNB1</i> Duplication Involving the Silencer Region: Beyond Classical Autosomal-Dominant Leukodystrophy. [PDF]

Neurol Genet
Wang JDJ, Kimball TN, Prapiadou S, Low XZ, Vijayan J, Chin HL, Tan BY.   +6 more
europepmc   +1 more source

Adult-Onset Alexander Disease: A Case Report and Literature Review of Glu207 Alterations. [PDF]

Cureus
Vallamchetla SK, Abdelkader O, Tuna IS, Barsamyan G, Shuhaiber H.   +4 more
europepmc   +1 more source

POLR3-related leukodystrophy: a qualitative study on parents’ experiences with the health care system and burden of disease in parents and siblings

Le, Adam
openalex   +1 more source

Unravelling homozygous PLA2G6 variants in Pakistani individuals with diverse clinical manifestations via whole exome sequencing. [PDF]

BMC Med Genomics
Khan H, Zahid M, Shabbir MI, Ahmed A, Khan B, Kiyani MM, Abualait T, Bashir S, Li HT.   +8 more
europepmc   +1 more source

Advanced biomaterials for rare Krabbe disease: galactocerebrosidase scaffolds in demyelinating lesions. [PDF]

Ann Med Surg (Lond)
Ashraf A, Ashraf H, Fatima M, Talha M, Gill OA.   +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