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2. Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing

3. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

4. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

5. Menstrual cycle hormones and oral contraceptives: A multi-method systems physiology-based review of their impact on key aspects of female physiology

7. Skeletal Muscle Mitochondrial Morphology Negatively Affected by Loss of Xin

17. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

22. Single nuclei profiling identifies cell specific markers of skeletal muscle aging, frailty, and senescence

23. Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications

28. Nutritional co-therapy with 1,3-butanediol and multi-ingredient antioxidants enhances autophagic clearance in Pompe disease

29. Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa

30. Cerebrospinal fluid and plasma metabolomics of acute endurance exercise

31. Aerobic exercise elicits clinical adaptations in myotonic dystrophy type 1 patients independently of pathophysiological changes

32. Genetic, structural and clinical analysis of spastic paraplegia 4

34. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

35. Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline

37. Routine lung volume recruitment in boys with Duchenne muscular dystrophy: a randomised clinical trial

41. Caffeine blocks SREBP2-induced hepatic PCSK9 expression to enhance LDLR-mediated cholesterol clearance

44. Nutritional Co-Therapy with 1,3-Butanediol and Multi-Ingredient Antioxidants Enhances Autophagic Clearance in Pompe Disease

47. Contributors

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