The Genetic Background of Abnormalities in Metabolic Pathways of Phosphoinositides and Their Linkage with the Myotubular Myopathies, Neurodegenerative Disorders, and Carcinogenesis. [PDF]
Biomolecules, 2023 Derkaczew M +5 more
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A case report of X-linked centronuclear myopathy in a neonate: clinical presentation, therapeutic process, and genetic insights. [PDF]
Front PediatrLiao H +7 more
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Lethal immunotoxicity in high-dose systemic AAV therapy. [PDF]
Mol Ther, 2023 Duan D.
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Inevitable Posterior Lower Segment Cesarean Section Due to Irreducible Uterine Torsion in a Woman Carrying X-Linked Myotubular Myopathy: A Case Report. [PDF]
CureusElzewawi NM +4 more
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Deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax: a case report. [PDF]
J Med Case Rep, 2023 Ramboux A +6 more
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Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases. [PDF]
Front Cell Dev BiolWein N, Barthélémy F.
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Signs and symptoms of carriers of non-<i>DMD</i> X-linked neuromuscular diseases: A scoping review. [PDF]
J Neuromuscul DisSimons J +6 more
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microRNA-133a as an indicator of disease progression and treatment response in X-linked myotubular myopathy. [PDF]
Mol Ther Nucleic AcidsMaani N +8 more
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Vitamin K and muscle health: mechanisms and clinical perspectives in sarcopenia and beyond: narrative review. [PDF]
Front NutrRan X +6 more
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[Clinical and genetic features of 5 neonates with centronuclear myopathy caused by MTM1 gene variation]. [PDF]
Zhongguo Dang Dai Er Ke Za ZhiXie T +7 more
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