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PubPharm (375)
1
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients : An international study
enthalten in:
European journal of neurology
| 2024
von
Coratti, G.
|
Bovis, F.
|
Pera, M.
| +44
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2
2-year Change in Revised Hammersmith Scale scores in a large cohort of untreated paediatric type 2 and 3 SMA participants
enthalten in:
bioRxiv.org
| 2024
von
Stimpson, G.
|
Ramsey, D.
|
Wolfe, A.
| +29
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3
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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4
Spectrum of ERCC6-Related Cockayne Syndrome (Type B) : From Mild to Severe Forms
enthalten in:
Genes
| 2024
von
Sartorelli, J.
|
Travaglini, L.
|
Macchiaiolo, M.
| +15
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5
Titin copy number variations associated with dominant inherited phenotypes
enthalten in:
Journal of medical genetics
| 2024
von
Perrin, A.
|
Métay, C.
|
Savarese, M.
| +30
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6
Bulbar function in spinal muscular atrophy (SMA) : State of art and new challenges. 21st July 2023, Rome, Italy
enthalten in:
Neuromuscular disorders : NMD
| 2024
von
McGrattan, K.
|
Cerchiari, A.
|
Conway, E.
| +41
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7
Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study
enthalten in:
Neuromuscular disorders : NMD
| 2024
von
Cumbo, F.
|
Tosi, M.
|
Catteruccia, M.
| +9
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8
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3
enthalten in:
Journal of neuromuscular diseases
| 2024
von
Wolfe, A.
|
Stimpson, G.
|
Ramsey, D.
| +32
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9
Early treatment of type II SMA slows rate of progression of scoliosis
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2024
von
Coratti, G.
|
Lenkowicz, J.
|
Pera, M.
| +23
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10
Case report : A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
enthalten in:
Frontiers in neurology
| 2024
von
Piga, D.
|
Rimoldi, M.
|
Magri, F.
| +11
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Neuromuscular disorders : NMD
25
Neuromuscular disorders
24
Journal of neurology
21
Orphanet journal of rare diseases
18
Neurology
14
PloS one
10
Muscle & nerve
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Acta myologica : myopathies and cardiomyopathie...
8
Journal of inherited metabolic disease
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Neurogenetics
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BMC medical genetics
6
European journal of paediatric neurology : EJPN...
6
Journal of medical genetics
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Annals of clinical and translational neurology
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Annals of neurology
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Brain : a journal of neurology
4
Annals of Clinical and Translational Neurology
4
Current neurology and neuroscience reports
4
European journal of human genetics : EJHG
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Thema
205
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114
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31
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28
Multicenter Study
22
Spinal muscular atrophy
15
Duchenne muscular dystrophy
15
Dystrophin
14
Oligonucleotides
13
5Z9SP3X666
13
nusinersen
12
Myopathy
12
Observational Study
10
Research Support, N.I.H., Extramural
10
Review
9
Next-generation sequencing
7
Collagen Type VI
7
Muscle MRI
7
Nusinersen
7
Therapy
7
spinal muscular atrophy
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2020-
208
2010-2019
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2000-2009
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