| 1 |
Mercuri E , Finkel RS , Muntoni F , Wirth B , Montes J , Main M , Mazzone ES , Vitale M , Snyder B , Quijano-Roy S , Bertini E , Davis RH , Meyer OH , Simonds AK , Schroth MK , Graham RJ , Kirschner J , Iannaccone ST , Crawford TO , Woods S , Qian Y , Sejersen T , SMA Care Group . Diagnosis and management of spinal muscular atrophy, part 1:recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord, 2018, 28: 103- 115.
doi: 10.1016/j.nmd.2017.11.005
|
| 2 |
Rare Disease Branch, Beijing Medical Association , Medical Genetics Branch, Beijing Medical Association , Neuromuscular Disease Group, Neurology Branch, Beijing Medical Association , Neurology Group, Pediatric Branch, Chinese Medical Association , Neurogenetics Group, Neurology Branch, Chinese Medical Association , Rehabilitation Group, Pediatric Branch, Chinese Medical Association . Consensus of multidisciplinary management experts on spinal muscular atrophy. Zhonghua Yi Xue Za Zhi, 2019, 99: 1460- 1467.
doi: 10.3760/cma.j.issn.0376-2491.2019.19.006
|
|
北京医学会罕见病分会, 北京医学会医学遗传学分会, 北京医学会神经病学分会神经肌肉病学组, 中华医学会儿科学分会神经学组, 中华医学会神经病学分会神经遗传学组, 中华医学会儿科学分会康复学组. 脊髓性肌萎缩症多学科管理专家共识. 中华医学杂志, 2019, 99: 1460- 1467.
doi: 10.3760/cma.j.issn.0376-2491.2019.19.006
|
| 3 |
de Onis M , Blössner M . The World Health Organization Global Database on Child Growth and Malnutrition: methodology and applications. Int J Epidemiol, 2003, 32: 518- 526.
doi: 10.1093/ije/dyg099
|
| 4 |
Scott OM , Hyde SA , Goddard C , Dubowitz V . Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy. Muscle Nerve, 1982, 5: 291- 301.
doi: 10.1002/mus.880050405
|
| 5 |
Huang M , Cao J , Sun J , Li W , Qin L , Li H , Zhai C , Huang W , Gui T , Zhang K , Wang J , Vuillerot C , Wang Y , Dai M . Cross-cultural adaptation and multi-centric validation of the motor function measure Chinese version (MFM-32-CN) for patients with neuromuscular diseases. Dev Neurorehabil, 2020, 23: 210- 217.
doi: 10.1080/17518423.2019.1642413
|
| 6 |
Mercuri E , Deconinck N , Mazzone ES , Nascimento A , Oskoui M , Saito K , Vuillerot C , Baranello G , Boespflug-Tanguy O , Goemans N , Kirschner J , Kostera-Pruszczyk A , Servais L , Gerber M , Gorni K , Khwaja O , Kletzl H , Scalco RS , Staunton H , Yeung WY , Martin C , Fontoura P , Day JW , SUNFISH Study Group . Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Lancet Neurol, 2022, 21: 42- 52.
doi: 10.1016/S1474-4422(21)00367-7
|
| 7 |
Coratti G , Pera MC , Lucibello S , Montes J , Pasternak A , Mayhew A , Glanzman AM , Young SD , Pane M , Scoto M , Messina S , Goemans N , Osorio AN , Pedemonte M , Sansone V , Bertini E , De Vivo DC , Finkel R , Muntoni F , Mercuri E , ISMAC Group and Collaborators . Age and baseline values predict 12 and 24-month functional changes in type 2 SMA. Neuromuscul Disord, 2020, 30: 756- 764.
doi: 10.1016/j.nmd.2020.07.005
|
| 8 |
Pera MC , Coratti G , Mazzone ES , Montes J , Scoto M , De Sanctis R , Main M , Mayhew A , Muni Lofra R , Dunaway Young S , Glanzman AM , Duong T , Pasternak A , Ramsey D , Darras B , Day JW , Finkel RS , De Vivo DC , Sormani MP , Bovis F , Straub V , Muntoni F , Pane M , Mercuri E , iSMAC Consortium Group . Revised upper limb module for spinal muscular atrophy: 12 month changes. Muscle Nerve, 2019, 59: 426- 430.
doi: 10.1002/mus.26419
|
| 9 |
Mazzone ES , Mayhew A , Montes J , Ramsey D , Fanelli L , Young SD , Salazar R , De Sanctis R , Pasternak A , Glanzman A , Coratti G , Civitello M , Forcina N , Gee R , Duong T , Pane M , Scoto M , Pera MC , Messina S , Tennekoon G , Day JW , Darras BT , De Vivo DC , Finkel R , Muntoni F , Mercuri E . Revised upper limb module for spinal muscular atrophy: development of a new module. Muscle Nerve, 2017, 55: 869- 874.
doi: 10.1002/mus.25430
|
| 10 |
Coratti G , Carmela Pera M , Montes J , Scoto M , Pasternak A , Bovis F , Sframeli M , D'Amico A , Pane M , Albamonte E , Antonaci L , Lia Frongia A , Mizzoni I , Sansone VA , Russo M , Bruno C , Baranello G , Messina S , Dunaway Young S , Glanzman AM , Duong T , de Sanctis R , Stacy Mazzone E , Milev E , Rohwer A , Civitello M , Darras BT , Bertini E , Day J , Muntoni F , De Vivo DC , Finkel RS , Mercuri E . Revised upper limb module in type Ⅱ and Ⅲ spinal muscular atrophy: 24-month changes. Neuromuscul Disord, 2022, 32: 36- 42.
doi: 10.1016/j.nmd.2021.10.009
|
| 11 |
Wei X , Tan H , Yang P , Zhang R , Tan B , Zhang Y , Mei L , Liang D , Wu L . Notable carrier risks for individuals having two copies of smn1 in spinal muscular atrophy families with 2-copy alleles: estimation based on Chinese Meta-analysis data. J Genet Couns, 2017, 26: 72- 78.
doi: 10.1007/s10897-016-9980-7
|
| 12 |
National Health Commission of the People's Republic of China, Ministry of Science and Technology of the People's Republic of China, Ministry of Industry and Information Technology of the People's Republic of China, National Medical Products Administration, National Administration of Traditional Chinese Medicine. Notice on the publication of the first list of rare diseases[EB/OL]. (2018-05-11)[2022-10-09]. https://www.gov.cn/zhengce/zhengceku/2018-12/31/content_5435167.htm. |
|
|
| 13 |
Wurster C , Petri S . Progress in spinal muscular atrophy research. Curr Opin Neurol, 2022, 35: 693- 698.
doi: 10.1097/WCO.0000000000001102
|
| 14 |
Mercuri E , Finkel R , Montes J , Mazzone ES , Sormani MP , Main M , Ramsey D , Mayhew A , Glanzman AM , Dunaway S , Salazar R , Pasternak A , Quigley J , Pane M , Pera MC , Scoto M , Messina S , Sframeli M , Vita GL , D'Amico A , van den Hauwe M , Sivo S , Goemans N , Kaufmann P , Darras BT , Bertini E , Muntoni F , De Vivo DC . Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials. Neuromuscul Disord, 2016, 26: 126- 131.
doi: 10.1016/j.nmd.2015.10.006
|
| 15 |
Mirea A , Leanca MC , Onose G , Sporea C , Padure L , Shelby ES , Dima V , Daia C . Physical therapy and nusinersen impact on spinal muscular atrophy rehabilitative outcome. Front Biosci (Landmark Ed), 2022, 27: 179.
doi: 10.31083/j.fbl2706179
|
| 16 |
Trenkle J , Brugman J , Peterson A , Roback K , Krosschell KJ . Filling the gaps in knowledge translation: physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines. Neuromuscul Disord, 2021, 31: 397- 408.
doi: 10.1016/j.nmd.2021.02.011
|
| 17 |
Feng Y , Ge X , Meng L , Scull J , Li J , Tian X , Zhang T , Jin W , Cheng H , Wang X , Tokita M , Liu P , Mei H , Wang Y , Li F , Schmitt ES , Zhang WV , Muzny D , Wen S , Chen Z , Yang Y , Beaudet AL , Liu X , Eng CM , Xia F , Wong LJ , Zhang J . The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med, 2017, 19: 936- 944.
doi: 10.1038/gim.2016.215
|
| 18 |
Yang AQ , Li WZ , Huang Z . Advance in clinical functional assessment of neuromuscular disease. Zhongguo Kang Fu Li Lun Yu Shi Jian, 2020, 26: 923- 929.
URL
|
|
杨安琪, 李文竹, 黄真. 神经肌肉病患者功能评定的临床应用进展. 中国康复理论与实践, 2020, 26: 923- 929.
URL
|
| 19 |
Gidaro T , Servais L . Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. Dev Med Child Neurol, 2019, 61: 19- 24.
doi: 10.1111/dmcn.14027
|
| 20 |
Michelson D , Ciafaloni E , Ashwal S , Lewis E , Narayanaswami P , Oskoui M , Armstrong MJ . Evidence in focus: nusinersen use in spinal muscular atrophy. Report of the guideline development, dissemination, and implementation subcommittee of the American Academy of Neurology. Neurology, 2018, 91: 923- 933.
doi: 10.1212/WNL.0000000000006502
|
| 21 |
|
|
|
| 22 |
National Healthcare Security Administration of the People's Republic of China, Ministry of Human Resources and Social Security of the People's Republic of China. Notice of the catalogue of drugs for national basic medical insurance, work-related injury insurance and maternity insurance (2021)[EB/OL]. (2021-12-03)[2022-10-09]. http://www.nhsa.gov.cn/art/2021/12/3/art_37_7429.html. |
|
|
| 23 |
Strauss KA , Carson VJ , Brigatti KW , Young M , Robinson DL , Hendrickson C , Fox MD , Reed RM , Puffenberger EG , Mackenzie W , Miller F . Preliminary safety and tolerability of a novel subcutaneous intrathecal catheter system for repeated outpatient dosing of nusinersen to children and adults with spinal muscular atrophy. J Pediatr Orthop, 2018, 38: e610- e617.
doi: 10.1097/BPO.0000000000001247
|
| 24 |
Zhang J , Cui X , Chen S , Dai Y , Huang Y , Zhang S . Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study. Orphanet J Rare Dis, 2021, 16: 274.
doi: 10.1186/s13023-021-01903-4
|
| 25 |
Bortolani S , Stura G , Ventilii G , Vercelli L , Rolle E , Ricci F , Bergui M , Mongini T . Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: transforaminal versus conventional approach. Neuromuscul Disord, 2019, 29: 742- 746.
doi: 10.1016/j.nmd.2019.08.007
|
| 26 |
Nascene DR , Ozutemiz C , Estby H , McKinney AM , Rykken JB . Transforaminal lumbar puncture: an alternative technique in patients with challenging access. AJNR Am J Neuroradiol, 2018, 39: 986- 991.
doi: 10.3174/ajnr.A5596
|
| 27 |
Shefner JM . Strength testing in motor neuron diseases. Neurotherapeutics, 2017, 14: 154- 160.
doi: 10.1007/s13311-016-0472-0
|
| 28 |
Nelson LL , Iannaccone ST . Clinical outcome assessments in Duchenne muscular dystrophy and spinal muscular atrophy: past, present and future. Neuromuscul Disord, 2021, 31: 1028- 1037.
doi: 10.1016/j.nmd.2021.07.015
|
| 29 |
Merlini L , Mazzone ES , Solari A , Morandi L . Reliability of hand-held dynamometry in spinal muscular atrophy. Muscle Nerve, 2002, 26: 64- 70.
doi: 10.1002/mus.10166
|
| 30 |
Iannaccone ST , Hynan LS , American Spinal Muscular Atrophy Randomized Trials (AmSMART) Group . Reliability of 4 outcome measures in pediatric spinal muscular atrophy. Arch Neurol, 2003, 60: 1130- 1136.
doi: 10.1001/archneur.60.8.1130
|
| 31 |
Bieniaszewska A , Sobieska M , Steinborn B , Gajewska E . Examination of upper limb function and the relationship with gross motor functional and structural parameters in patients with spinal muscular atrophy. Biomedicines, 2023, 11: 1005.
doi: 10.3390/biomedicines11041005
|