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2019 2
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2023 2
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Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi E, Vaisfeld A, Fiori S, Novelli A, Spartano S, Faggiano MV, Giovanniello T, Angeloni A, Vento G, Santoloci R, Gigli F, D'Amico A, Costa S, Porzi A, Panella M, Ticci C, Daniotti M, Sacchini M, Boschi I, Dani C, Agostiniani R, Bertini E, Lanzone A, Lamarca G, Genuardi M, Pane M, Donati MA, Mercuri E, Tiziano FD; Italian SMA-NBS group. Abiusi E, et al. J Med Genet. 2023 Jul;60(7):697-705. doi: 10.1136/jmg-2022-108873. Epub 2022 Nov 22. J Med Genet. 2023. PMID: 36414255
We report here the results of the first Italian SMA-NBS project and provide some proposals for updating the current molecular diagnostic scenario. ...In detail, SMA diagnosis should be felt as a true medical urgency due to therapeutic implications; SMN2 copy assessm …
We report here the results of the first Italian SMA-NBS project and provide some proposals for updating the current molecular …
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Kimizu T, Ida S, Oki K, Shima M, Nishimoto S, Nakajima K, Ikeda T, Mogami Y, Yanagihara K, Matsuda K, Nishi E, Hasegawa Y, Nozaki M, Fujita H, Irie A, Katayama T, Okamoto N, Imai K, Nishio H, Suzuki Y. Kimizu T, et al. Brain Dev. 2023 Aug;45(7):363-371. doi: 10.1016/j.braindev.2023.03.004. Epub 2023 Mar 25. Brain Dev. 2023. PMID: 36973114
OBJECTIVE: This study aimed to establish an optional newborn screening program for spinal muscular atrophy (SMA-NBS) in Osaka. ...All of them tested negative for survival motor neuron (SMN)1 deletion, and there were no false-positives. Based on these results, …
OBJECTIVE: This study aimed to establish an optional newborn screening program for spinal muscular atrophy (SMA-NBS) in …
A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study.
Shinohara M, Niba ETE, Wijaya YOS, Takayama I, Mitsuishi C, Kumasaka S, Kondo Y, Takatera A, Hokuto I, Morioka I, Ogiwara K, Tobita K, Takeuchi A, Nishio H; SMA-NBS PILOT STUDY GROUP. Shinohara M, et al. Int J Neonatal Screen. 2019 Nov 12;5(4):41. doi: 10.3390/ijns5040041. eCollection 2019 Dec. Int J Neonatal Screen. 2019. PMID: 33072999 Free PMC article.
Because nusinersen treatment can alter disease trajectory, there is a strong rationale for newborn screening. In the current study, we validated the accuracy of a new system for detecting SMN1 deletion (Japanese patent application No. 2017-196967, PCT/JP2018/37732) using d …
Because nusinersen treatment can alter disease trajectory, there is a strong rationale for newborn screening. In the current study, w …
One Year of Newborn Screening for SMA - Results of a German Pilot Project.
Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W. Vill K, et al. J Neuromuscul Dis. 2019;6(4):503-515. doi: 10.3233/JND-190428. J Neuromuscul Dis. 2019. PMID: 31594245 Free PMC article.
OBJECTIVE: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. The study was conducted to assess the impact of early detection of SMA by newborn screening (NBS) on the clinical course of the disease. ...Following positive NBS and confir …
OBJECTIVE: Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. The study was conducted to assess …
Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme.
D'Silva AM, Kariyawasam DST, Best S, Wiley V, Farrar MA; NSW SMA NBS Study Group. D'Silva AM, et al. Dev Med Child Neurol. 2022 May;64(5):625-632. doi: 10.1111/dmcn.15117. Epub 2021 Nov 28. Dev Med Child Neurol. 2022. PMID: 34839535 Free PMC article.
AIM: This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA). METHOD: We used an implementation-effectiveness study design and continuous i …
AIM: This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) …