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PubPharm (92)
1
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy : a cohort study
enthalten in:
Archives of disease in childhood
| 2024
von
Buchignani, B.
|
Cicala, G.
|
Cumbo, F.
| +21
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2
Early neurological signs in infants identified through neonatal screening for SMA : do they predict outcome?
enthalten in:
European journal of pediatrics
| 2024
von
Pane, M.
|
Stanca, G.
|
Ticci, C.
| +25
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3
Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients : A 24-month study
enthalten in:
Neuromuscular disorders : NMD
| 2024
von
Coratti, G.
|
Pane, M.
|
Brogna, C.
| +42
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4
Patient reported outcome measure for upper limb in Duchenne muscular dystrophy : correlation with PUL2.0
enthalten in:
Neuromuscular disorders : NMD
| 2023
von
Cicala, G.
|
Pane, M.
|
Coratti, G.
| +20
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5
Type I spinal muscular atrophy patients treated with nusinersen : 4-year follow-up of motor, respiratory and bulbar function
enthalten in:
European journal of neurology
| 2023
von
Pane, M.
|
Coratti, G.
|
Sansone, V.
| +31
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6
Onasemnogene abeparvovec in spinal muscular atrophy : predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies
enthalten in:
EClinicalMedicine
| 2023
von
Pane, M.
|
Berti, B.
|
Capasso, A.
| +57
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7
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients : How do they Change in Relation to Functional Ability?
enthalten in:
Journal of neuromuscular diseases
| 2023
von
Pane, M.
|
Coratti, G.
|
Brogna, C.
| +40
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8
Psychological factors in functional hypothalamic amenorrhea : A systematic review and meta-analysis
enthalten in:
Frontiers in endocrinology
| 2023
von
Bonazza, F.
|
Politi, G.
|
Leone, D.
| +2
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9
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2) : secondary analyses from an open-label trial
enthalten in:
The Lancet. Neurology
| 2022
von
Masson, R.
|
Mazurkiewicz-Bełdzińska, M.
|
Rose, K.
| +120
CommentIn: Lancet Neurol. 2022 Dec;21(12):1065-1066. - PMID 36244363
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10
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy
enthalten in:
International journal of molecular sciences
| 2022
von
Bosco, L.
|
Leone, D.
|
Costa Comellas, L.
| +6
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Early human development
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Thema
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16
Research Support, Non-U.S. Gov't
8
Oligonucleotides
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5Z9SP3X666
6
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nusinersen
5
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spinal muscular atrophy
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2010-2019
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