Publications by authors named "Maud Chapart"
Article Synopsis
- Spinal muscular atrophy (SMA) is a genetic disorder caused by the loss or mutation of the SMN1 gene, leading to muscle weakness and neuromuscular symptoms.* -
- Recent advancements in SMA treatment have introduced three new therapies, including Risdiplam and Nusinersen, but patients still face challenges like muscle fatigue and limited mobility.* -
- A study analyzing muscle tissue from Type II SMA patients revealed mitochondrial dysfunction and cellular stress, suggesting potential new targets for future combination therapies.*
Article Synopsis
- ALS is a disease that affects nerve cells and usually leads to severe muscle problems and a short life expectancy of 3-5 years.
- The study explored how cholesterol and its levels in muscle might relate to the problems caused by ALS, showing that ALS patients had more cholesterol in their muscles.
- Researchers noticed that certain genes related to cholesterol movement were overactive in ALS patients, suggesting that cholesterol buildup might be linked to the severity of their muscle issues.
Article Synopsis
- * Researchers compared the effectiveness of different rAAV serotypes (1-10) through direct intramuscular injections in mice, finding that rAAV9 was the most effective.
- * They also tested AAV vectors in human muscle xenografts in mice, revealing that rAAV8 and rAAV9 worked similarly well in human muscle, establishing a model for future AAV-based therapies.
Background: The diaphragm is difficult to biopsy because of its anatomic location. We describe a new laparoscopic diaphragm biopsy technique.
Material And Methods: Fifty one patients with amyotrophic lateral sclerosis gave their consent to diaphragm biopsy in the context of an implanted phrenic nerve stimulation protocol (NCT01583088).