Results 131 to 140 of about 11,658 (188)

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility. [PDF]

Neurol Genet
Manisha KY, Fasaludeen A, Poulose P, Menon R, Thomas B, Nair SS, Cherian A, Divya KP, Sundaram S.   +8 more
europepmc   +1 more source

Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review. [PDF]

Radiol Case Rep
Christodoulou MV, Anagnostou N, Zikou AK.   +2 more
europepmc   +1 more source

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries. [PDF]

Orphanet J Rare Dis
Schoenmakers DH, Mochel F, Adang LA, Boelens JJ, Calbi V, Eklund EA, Grønborg SW, Fumagalli F, Groeschel S, Lindemans C, Sevin C, Schöls L, Ram D, Zerem A, Graessner H, Wolf NI.   +15 more
europepmc   +1 more source

Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series. [PDF]

Blood Adv
Riedel A, Faul C, Reuss K, Schröder JC, Lang PJ, Lengerke C, Weissert N, Hengel H, Gröschel S, Schoels L, Bethge WA.   +10 more
europepmc   +1 more source

Rafiq Syndrome: Old Variant in MAN1B1 Gene and Some New Phenotypic Features. [PDF]

Iran J Child Neurol
Özgün N, Saka Güvenç M.
europepmc   +1 more source

Screening of phytoconstituents from Bacopa monnieri (L.) Pennell and Mucuna pruriens (L.) DC. to identify potential inhibitors against Cerebroside sulfotransferase. [PDF]

PLoS One
Singh N, Singh AK.
europepmc   +1 more source

Emerging Role of Ubiquitin Proteasome System and Autophagy in Pediatric Demyelinating Leukodystrophies and Therapeutic Opportunity. [PDF]

Cells
Lin DS, Ho CS.
europepmc   +1 more source

Advances in AAV-mediated gene replacement therapy for pediatric monogenic neurological disorders. [PDF]

Mol Ther Methods Clin Dev
Zhou L, Wang Y, Xu Y, Zhang Y, Zhu C.
europepmc   +1 more source

Hematopoietic stem cell gene therapy to halt neurodegeneration. [PDF]

Neurotherapeutics
Biffi A.
europepmc   +1 more source