Adult Sandhoff disease presenting with chronic diarrhoea

Macrophage inclusions in patients undergoing antisense oligonucleotide therapy for ALS or SMA: A retrospective and transversal study.

Revue neurologique·2026

Current management and treatment of patients with myasthenia gravis in France: A survey of the neurologist's perspective.

Revue neurologique·2026

Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.

European journal of neurology·2025

The safety of COVID-19 vaccines in a large French series of patients with neuromuscular conditions and the impacts of vaccination on their daily lives.

Revue neurologique·2025

Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).

Revue neurologique·2024

French protocol for the diagnosis and management of hematopoietic stem cell transplantation in autoimmune diseases.

La Revue de medecine interne·2024

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.

Journal of inherited metabolic disease·2026

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.

Journal of inherited metabolic disease·2026

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

Journal of inherited metabolic disease·2026

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Journal of inherited metabolic disease·2026

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Journal of inherited metabolic disease·2026

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Journal of inherited metabolic disease·2026

A depositional taphonomy model for sedaDNA based on biotic profiles of contrasting sedimentation regimes.

PNAS nexus·2026

Influence of Sedimentary Environment on Organic Matter Enrichment in Shallow Marine Shelf Organic-Rich Shales: Study of the Wujiaping Formation in Eastern Sichuan Basin.

ACS omega·2026

The evolution of the Earth's surface iron cycle.

Proceedings of the National Academy of Sciences of the United States of America·2026

Rheology of the lower mantle: an alternative review.

Progress in earth and planetary science·2026

Provenance and sedimentary pathways on the largest inland aeolian system in Brazil: Insights from heavy-mineral analysis in Xique-Xique dune field.

Anais da Academia Brasileira de Ciencias·2026

Subducted sediments hidden in the upper-mantle X-discontinuities.

Nature communications·2026

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Adult Sandhoff disease presenting with chronic diarrhoea

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Macrophage inclusions in patients undergoing antisense oligonucleotide therapy for ALS or SMA: A retrospective and transversal study.

Current management and treatment of patients with myasthenia gravis in France: A survey of the neurologist's perspective.

Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.

The safety of COVID-19 vaccines in a large French series of patients with neuromuscular conditions and the impacts of vaccination on their daily lives.

Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).

French protocol for the diagnosis and management of hematopoietic stem cell transplantation in autoimmune diseases.

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

A depositional taphonomy model for sedaDNA based on biotic profiles of contrasting sedimentation regimes.

Influence of Sedimentary Environment on Organic Matter Enrichment in Shallow Marine Shelf Organic-Rich Shales: Study of the Wujiaping Formation in Eastern Sichuan Basin.

The evolution of the Earth's surface iron cycle.

Rheology of the lower mantle: an alternative review.

Provenance and sedimentary pathways on the largest inland aeolian system in Brazil: Insights from heavy-mineral analysis in Xique-Xique dune field.

Subducted sediments hidden in the upper-mantle X-discontinuities.

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Adult Sandhoff disease presenting with chronic diarrhoea

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