[1] Park JS, Park D. Five-year serial follow-up of muscle MRI in adult onset myotonic dystrophy type 1:a case report[J]. Medicine (Baltimore), 2018, 97:e9379.
[2] Verdú-Díaz J, Alonso-Pérez J, Nuñez-Peralta C, Tasca G, Vissing J, Straub V, Fernández-Torrón R, Llauger J, Illa I, Díaz-Manera J. Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies[J]. Neurology, 2020, 94:e1094-e1102.
[3] Marozzo R, Pegoraro V, Angelini C. MiRNAs, myostatin, and muscle MRI imaging as biomarkers of clinical features in Becker muscular dystrophy[J]. Diagnostics (Basel), 2020, 10:713.
[4] Dahlqvist JR, Widholm P, Leinhard OD, Vissing J. MRI in neuromuscular diseases:an emerging diagnostic tool and biomarker for prognosis and efficacy[J]. Ann Neurol, 2020, 88:669-681.
[5] Mercuri E, Pichiecchio A, Counsell S, Allsop J, Cini C, Jungbluth H, Uggetti C, Bydder G. A short protocol for muscle MRI in children with muscular dystrophies[J]. Eur J Paediatr Neurol, 2002, 6:305-307.
[6] Tomas X, Milisenda JC, Garcia-Diez AI, Prieto-Gonzalez S, Faruch M, Pomes J, Grau-Junyent JM. Whole-body MRI and pathological findings in adult patients with myopathies[J]. Skeletal Radiol, 2019, 48:653-676.
[7] Haber G, Conway KM, Paramsothy P, Roy A, Rogers H, Ling X, Kozauer N, Street N, Romitti PA, Fox DJ, Phan HC, Matthews D, Ciafaloni E, Oleszek J, James KA, Galindo M, Whitehead N, Johnson N, Butterfield RJ, Pandya S, Venkatesh S, Bhattaram VA. Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy[J]. Muscle Nerve, 2021, 63:181-191.
[8] Li HZ, Xu CY, Mao YJ, Lu JF, Xiang YB, Xu XQ, Tang SH. Mutation analysis and prenatal diagnosis for 50 pedigrees affected with Duchenne/Becker muscular dystrophy[J]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2018, 35:169-174.[李焕铮, 徐晨阳, 毛义建, 卢金芳, 项延包, 徐雪琴, 唐少华. 50个假肥大型肌营养不良家系的基因突变检测及产前诊断[J].中华医学遗传学杂志, 2018, 35:169-174.]
[9] Shelly MJ, Bolster F, Foran P, Crosbie I, Kavanagh EC, Eustace SJ. Whole-body magnetic resonance imaging in skeletal muscle disease[J]. Semin Musculoskelet Radiol, 2010, 14:47-56.
[10] Marden FA, Connolly AM, Siegel MJ, Rubin DA. Compositional analysis of muscle in boys with Duchenne muscular dystrophy using MR imaging[J]. Skeletal Radiol, 2005, 34:140-148.
[11] Polavarapu K, Manjunath M, Preethish-Kumar V, Sekar D, Vengalil S, Thomas P, Sathyaprabha TN, Bharath RD, Nalini A. Muscle MRI in Duchenne muscular dystrophy:Evidence of a distinctive pattern[J]. Neuromuscul Disord, 2016, 26:768-774.
[12] Bu SS, Xiao JX, Zhu Y, Wang ZX. Comparative study of conventional MRI between Duchenne muscular dystrophy and Becker muscular dystrophy[J]. Zhongguo Yi Xue Ying Xiang Ji Shu, 2019, 35:1717-1721.[卜姗姗, 肖江喜, 朱颖, 王朝霞. 杜氏肌营养不良与贝氏肌营养不良常规MRI的对比研究[J]. 中国医学影像技术, 2019, 35:1717-1721.]
[13] Park D, Lee SH, Shin JH, Park JS. Lower limb muscle magnetic resonance imaging in myotonic dystrophy type 1 correlates with the six-minute walk test and CTG repeats[J]. Neuromuscul Disord, 2018, 28:29-37.
[14] Wenninger S, Montagnese F, Schoser B. Core clinical phenotypes in myotonic dystrophies[J]. Front Neurol, 2018, 9:303.
[15] Song J, Fu J, Ma M, Pang M, Li G, Gao L, Zhang J. Lower limb muscle magnetic resonance imaging in Chinese patients with myotonic dystrophy type 1[J]. Neurol Res, 2020, 42:170-177.
[16] Peric S, Maksimovic R, Banko B, Durdic M, Bjelica B, Bozovic I, Balcik Y, Pesovic J, Savic-Pavicevic D, Rakocevic-Stojanovic V. Magnetic resonance imaging of leg muscles in patients with myotonic dystrophies[J]. J Neurol, 2017, 264:1899-1908.
[17] Tasca G, Monforte M, Ottaviani P, Pelliccioni M, Frusciante R, Laschena F, Ricci E. Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients:pattern refinement and implications for clinical trials[J]. Ann Neurol, 2016, 79:854-864.
[18] Gerevini S, Scarlato M, Maggi L, Cava M, Caliendo G, Pasanisi B, Falini A, Previtali SC, Morandi L. Muscle MRI findings in facioscapulohumeral muscular dystrophy[J]. Eur Radiol, 2016, 26:693-705.
[19] Leung DG. Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases:a systematic review[J]. J Neurol, 2017, 264:1320-1333.
[20] Ma MM, Song J, Zhang JW, Gao L, Pang M, Li G, Fu J. Skeletal muscle MRI of lower limbs in patients with facioscapulohumeral dystrophy[J]. Zhonghua Yi Xue Za Zhi, 2019, 99:675-679.[马明明, 宋佳, 张杰文, 高丽, 庞咪, 李刚,付俊. 面肩肱型肌营养不良下肢肌群磁共振成像特点[J]. 中华医学杂志, 2019, 99:675-679.]
[21] Tasca G, Pescatori M, Monforte M, Mirabella M, Iannaccone E, Frusciante R, Cubeddu T, Laschena F, Ottaviani P, Ricci E. Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles[J]. PLoS One, 2012, 7:e38779.
[22] Preethish-Kumar V, Pogoryelova O, Polavarapu K, Gayathri N, Seena V, Hudson J, Nishino I, Prasad C, Lochmüller H, Nalini A. Beevor's sign:a potential clinical marker for GNE myopathy[J]. Eur J Neurol, 2016, 23:e46-e48.
[23] Feng X, Luo S, Li J, Yue D, Xi J, Zhu W, Gao X, Guan X, Lu J, Liang Z, Zhao C. Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging[J]. Muscle Nerve, 2018, 58:536-541.
[24] Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber -Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium. Muscle MRI in patients with dysferlinopathy:pattern recognition and implications for clinical trials[J]. J Neurol Neurosurg Psychiatry, 2018, 89:1071-1081.
[25] Xu M, Guo H, Gao XC, Lu XP. Clinical and genotypic analysis of a patient with limb-girdle muscular dystrophy type 2D[J]. Lin Chuang Er Ke Za Zhi, 2020, 38:113-115.[徐敏, 郭虎, 高修成, 卢孝鹏. 肢带型肌营养不良2D型1例临床与基因型分析[J]. 临床儿科杂志, 2020, 38:113-115.]
[26] Wang DN, Wang ZQ, Chen YQ, Xu GR, Lin MT, Wang N. Limb-girdle muscular dystrophy type 2I:two Chinese families and a review in Asian patients[J]. Int J Neurosci, 2018, 128:199-207.
[27] Shioya A, Takuma H, Takahashi T, Ishii A, Aoki M, Tamaoka A. Radiological findings in siblings with dysferlin mutation with diverse phenotype[J]. J Neurol Sci, 2020, 409:116579.
[28] Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C. MRI in sarcoglycanopathies:a large international cohort study[J]. J Neurol Neurosurg Psychiatry, 2018, 89:72-77.
[29] Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F. Muscle MRI in inherited neuromuscular disorders:past, present, and future[J]. J Magn Reson Imaging, 2007, 25:433-440.
[30] Salim R, Dahlqvist JR, Khawajazada T, Kass K, Revsbech KL, de Stricker Borch J, Munawar Sheikh A, Vissing J. Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy[J]. J Neurol, 2020, 267:2432-2442.
[31] Batra A, Lott DJ, Willcocks R, Forbes SC, Triplett W, Dastgir J, Yun P, Reghan Foley A, Bönnemann CG, Vandenborne K, Walter GA. Lower extremity muscle involvement in the intermediate and bethlem myopathy forms of COL6-related dystrophy and duchenne muscular dystrophy:a cross-sectional study[J]. J Neuromuscul Dis, 2020, 7:407-417.
[32] Liu CY, Yao J, Kovacs WC, Shrader JA, Joe G, Ouwerkerk R, Mankodi AK, Gahl WA, Summers RM, Carrillo N. Skeletal muscle magnetic resonance biomarkers in GNE myopathy[J]. Neurology, 2021, 96:e798-e808.
[33] Song J, Zhang JW, Pang M, Li G, Gao XY, Zeng Y, Ma MM. Clinical and myopathological features and genetic mutations of GNE myopathy[J]. Zhonghua Shen Jing Yi Xue Za Zhi, 2018, 17:610-614.[宋佳, 张杰文, 庞咪, 李刚, 高鑫雅, 曾缨, 马明明. GNE肌病的临床、病理特点及基因分析[J]. 中华神经医学杂志, 2018, 17:610-614.]
[34] Chang XZ. Diagnosis and therapy of congenital myopathies[J]. Zhonghua Shi Yong Er Ke Lin Chuang Za Zhi, 2016, 31:881-883.[常杏芝. 先天性肌病的诊断与治疗[J]. 中华实用儿科临床杂志, 2016, 31:881-883.]
[35] Ennis J, Dyment DA, Michaud J, McMillan HJ. Congenital nemaline myopathy:the value of magnetic resonance imaging of muscle[J]. Can J Neurol Sci, 2015, 42:338-340.
[36] Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, North K, Laing N, Bydder G, Pelin K, Wallgren-Pettersson C, Muntoni F. Magnetic resonance imaging of muscle in nemaline myopathy[J]. Neuromuscul Disord, 2004, 14:779-784.
[37] Castiglioni C, Cassandrini D, Fattori F, Bellacchio E, D'Amico A, Alvarez K, Gejman R, Diaz J, Santorelli FM, Romero NB, Bertini E, Bevilacqua JA. Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy[J]. Muscle Nerve, 2014, 50:1011-1016.
[38] Monforte M, Primiano G, Silvestri G, Mirabella M, Luigetti M, Cuccagna C, Ricci E, Servidei S, Tasca G. Sporadic late-onset nemaline myopathy:clinical, pathology and imaging findings in a single center cohort[J]. J Neurol, 2018, 265:542-551.
[39] Díaz-Manera J, Walter G, Straub V. Skeletal muscle magnetic resonance imaging in Pompe disease[J]. Muscle Nerve, 2021, 63:640-650.
[40] Hong DJ, Zhu M, Zhu ZJ, Cong L, Zhong SS, Liu L, Zhang J. Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency[J]. Chin Med J (Engl), 2019, 132:275-284.
[41] Zhao YW, Liu XJ, Zhang W, Wang ZX, Yuan Y. Muscle magnetic resonance imaging for the differentiation of multiple Acyl-CoA dehydrogenase deficiency and immune-mediated necrotizing myopathy[J]. Chin Med J (Engl), 2018, 131:144-150.
[42] Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM. Muscle MRI in neutral lipid storage disease (NLSD)[J]. J Neurol, 2017, 264:1334-1342. |