An adult with a non-neuronopathic form of Niemann-Pick C disease

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Observation and Measurement of Forward Proton Scattering in Association with Lepton Pairs Produced via the Photon Fusion Mechanism at ATLAS.

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Search for Heavy Resonances Decaying into a Photon and a Hadronically Decaying Higgs Boson in pp Collisions at sqrt[s]=13 TeV with the ATLAS Detector.

Physical review letters·2021

Search for Higgs Boson Decays into a Z Boson and a Light Hadronically Decaying Resonance Using 13 TeV pp Collision Data from the ATLAS Detector.

Physical review letters·2020

Dijet Resonance Search with Weak Supervision Using sqrt[s]=13 TeV pp Collisions in the ATLAS Detector.

Physical review letters·2020

CP Properties of Higgs Boson Interactions with Top Quarks in the tt[over ¯]H and tH Processes Using H→γγ with the ATLAS Detector.

Physical review letters·2020

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Journal of inherited metabolic disease·2026

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Journal of inherited metabolic disease·2026

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Journal of inherited metabolic disease·2026

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

Burden of CNS neoplasms in the Middle East and North Africa from 1990 to 2023, with projections to 2050: Insights from Global Burden of Disease.

Medicine·2026

Spontaneous gene mutation encounters a paternal genetic variant: Nemaline myopathy: a case report and literature review.

Medicine·2026

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Current topics in behavioral neurosciences·2026

Frequency-dependent, asymmetric, and dynamic alterations of white matter function in primary hemifacial spasm: a multiband resting-state fMRI study.

Brain structure & function·2026

The dual role of the PI3K/AKT/mTOR axis in glial cell survival and neuroinflammation.

Naunyn-Schmiedeberg's archives of pharmacology·2026

Neurodegenerative diseases in Sub-Saharan Africa: diagnostic invisibility, biological heterogeneity and a precision-neuroscience agenda.

Neuroscience·2026

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An adult with a non-neuronopathic form of Niemann-Pick C disease

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An adult with a non-neuronopathic form of Niemann-Pick C disease

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