Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis

Microbial community changes in a female rat model of Rett syndrome.

Progress in neuro-psychopharmacology & biological psychiatry·2021

Clinical severity and quality of life in children and adolescents with Rett syndrome.

Neurology·2011

Epilepsy and the natural history of Rett syndrome.

Neurology·2010

FXYD1, a modulator of Na,K-ATPase activity, facilitates female sexual development by maintaining gonadotrophin-releasing hormone neuronal excitability.

Journal of neuroendocrinology·2009

Early progressive encephalopathy in boys and MECP2 mutations.

Neurology·2006

Clinical and genetic heterogeneity in benign hereditary chorea.

Neurology·2002

Clinical Uses of Common Genetic Variants Associated with Common Diseases.

The New England journal of medicine·2026

Etuvetidigene Autotemcel for the Treatment of Wiskott-Aldrich Syndrome.

The New England journal of medicine·2026

Phase 1 Study of Anito-cel, a d-Domain BCMA CAR T Cell for Refractory or Recurrent Myeloma.

The New England journal of medicine·2026

Effect of Screening with Multicancer Early-Detection Test on Late-Stage Cancer Diagnosis.

The New England journal of medicine·2026

The dynamic trajectory of circulating exosome components in high-fat diet-induced metabolic-associated steatotic liver disease and its modulation by curcuminoids.

Frontiers in endocrinology·2026

Proteolytic remodeling by Yme1 enables mitochondrial-derived compartment formation.

bioRxiv : the preprint server for biology·2026

Genetically predicted ZDHHC8 expression and osteoporosis risk: A two-sample Mendelian randomization and metabolite mediation study.

Medicine·2026

Plant-Derived Exosome-like Nanovesicles for Metabolic Dysfunction-Associated Steatotic Liver Disease.

Veterinary sciences·2026

Oxidative Stress as a Pathophysiological Core of Obesity: Preclinical Evidence for Antioxidant-Based Therapy Strategies.

Pharmaceuticals (Basel, Switzerland)·2026

Flavonoids for MASLD: Hepatic Lipid Targets, Biopharmaceutic Barriers, and Formulation Strategies.

Pharmaceuticals (Basel, Switzerland)·2026

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