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2. Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy. Ke Q; Zhao ZY; Mendell JR; Baker M; Wiley V; Kwon JM; Alfano LN; Connolly AM; Jay C; Polari H; Ciafaloni E; Qi M; Griggs RC; Gatheridge MA World J Pediatr; 2019 Jun; 15(3):219-225. PubMed ID: 30904991 [TBL] [Abstract][Full Text] [Related]
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6. Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening. Romanelli Tavares VL; Mendonça RH; Toledo MS; Hadachi SM; Grindler CM; Zanoteli E; Marques W; Oliveira ASB; Breinis P; Morita MDPA; França MC Genes (Basel); 2024 Jun; 15(7):. PubMed ID: 39062637 [TBL] [Abstract][Full Text] [Related]
8. In vivo proton magnetic resonance spectroscopy assessment for muscle metabolism in neuromuscular diseases. Hsieh TJ; Wang CK; Chuang HY; Jong YJ; Li CW; Liu GC J Pediatr; 2007 Sep; 151(3):319-21. PubMed ID: 17719948 [TBL] [Abstract][Full Text] [Related]
9. Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy. Esposito G; Ruggiero R; Savarese M; Savarese G; Tremolaterra MR; Salvatore F; Carsana A Clin Chem Lab Med; 2013 Dec; 51(12):2239-45. PubMed ID: 23729582 [TBL] [Abstract][Full Text] [Related]
10. [Denaturing high-performance liquid chromatography coupled with multiplex PCR for rapid detection of large duplications or deletions in patients with Duchenne muscular dystrophy and spinal muscular atrophy]. Zou HQ; Zhao BJ; Yan J; Han W; Xiong MH; Peng KR Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):686-9. PubMed ID: 23225050 [TBL] [Abstract][Full Text] [Related]
11. Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy. Rouillon J; Zocevic A; Leger T; Garcia C; Camadro JM; Udd B; Wong B; Servais L; Voit T; Svinartchouk F Neuromuscul Disord; 2014 Jul; 24(7):563-73. PubMed ID: 24813925 [TBL] [Abstract][Full Text] [Related]
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17. Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials. Decostre V; De Antonio M; Servais L; Hogrel JY J Neuromuscul Dis; 2024; 11(4):777-790. PubMed ID: 38788084 [TBL] [Abstract][Full Text] [Related]
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