Results 191 to 200 of about 24,692 (277)

Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy. [PDF]

Cureus
Bhimanadham VM, Panicker GJ.
europepmc   +1 more source

Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment. [PDF]

Ther Innov Regul Sci
Farmer C, Kim V, Das T, Cutler S, Wallis H, Thurm A.   +5 more
europepmc   +1 more source

One year follow up in siblings with TREX1-associated retinal vasculopathy with cerebral leukodystrophy. [PDF]

Am J Ophthalmol Case Rep
Mylonas G, Dimakopoulou I, Iby J, Deak G, Hollaus M, Buehl W, Lehner R, Ritter M, Weigert G, Schmidt-Erfurth U, Sacu S.   +10 more
europepmc   +1 more source

Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant. [PDF]

Front Genet
Zhou J, Ji C, Ma S, Zhu J, Yang P.
europepmc   +1 more source

Stem cell and gene therapies for leukodystrophies. [PDF]

Mol Ther Methods Clin Dev
Lin W, Zhang M, Zheng S, Lian Q.
europepmc   +1 more source

Analyzing accessibility and suitability of online Krabbe disease resources. [PDF]

J Community Genet
Zieber M, Weaver WC, Felter E, Brackbill L, Rajan D, Durst A.   +5 more
europepmc   +1 more source

"Case report": Whole-exome sequencing reveals compound heterozygous variants in the <i>EIF2B5</i> gene in a familial case of vanishing white matter. [PDF]

Front Genet
Savy S, Montes FA, Grosso CL, Laróvere LE, Silvera-Ruiz SM, Carro GH, Guelbert G, Becerra A, Morales D, Nicola JP.   +9 more
europepmc   +1 more source

Retinal Vasculopathy With Cerebral Leukoencephalopathy Mimicking a Brain Tumor: A Case Report. [PDF]

Cureus
Villegas Hernández JC, Sánchez Sánchez CE, Sahagún Leyva KK, Lozano Santos BS, Ortiz-Plata A, Monroy-Jaramillo N, Tena Suck ML.   +6 more
europepmc   +1 more source

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation. [PDF]

Ann Med Surg (Lond)
Mahin FE, Rubab M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Leukodystrophy [PDF]

, 2019
openaire   +1 more source