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Search results (387)

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Synthesis of N-Acetyl-D- and -L-Leucine-13C6 Tool Compounds in Neurodegenerative Disease.

Crepin D. et al, (2026), ChemMedChem, 21

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.

Hiwot T. et al, (2026), J Inherit Metab Dis, 49

Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of lysosomal free sialic acid storage disorder.

Sabir MS. et al, (2026), Exp Neurol, 399

GPNMB and glycosphingolipid measurements in cerebrospinal fluid and plasma from Parkinson’s disease patients

Fernandez-Suarez ME. et al, (2026)

Sialylated Gangliosides are Required for Plasma Membrane Organization and Neuronal Function

Barrow HG. et al, (2026)

Correction: Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N‑of‑1 Trial with 21 months Clinical Observation.

Cook A. et al, (2026), Neurol Ther

Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration.

Liu W. et al, (2026), Hum Gene Ther, 37, 241 - 261

Links between COVID-19, long COVID, and neurodegeneration: The role of glycosphingolipids.

Spedding M. et al, (2026), Pharmacol Rev, 78

A molecular map of the living human brain from quantitative MRI

Ryten M. et al, (2026)

Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation.

Cook A. et al, (2026), Neurol Ther, 15, 447 - 456

Limited therapeutic efficacy of N-acetyl-L-leucine in a mouse model of CLN1 disease.

Ziółkowska EA. et al, (2025), Sci Rep, 16

N-acetyl-L-leucine (Levacetylleucine) normalizes Transcription Factor EB (TFEB) activity by stereospecific bidirectional modulation

Davis LC. et al, (2025)

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.

Sabir MS. et al, (2025), Mol Genet Metab Rep, 45

Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Kilavuz S. et al, (2025), Orphanet J Rare Dis, 20

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Kilavuz S. et al, (2025), Orphanet J Rare Dis, 20

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