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PubPharm (59)
1
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy
enthalten in:
Journal of neuromuscular diseases
| 2024
von
Bello, L.
|
Sabbatini, D.
|
Fusto, A.
| +36
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2
Anti-HMGCR myopathy : barriers to prompt recognition
enthalten in:
Practical neurology
| 2023
von
Barp, A.
|
Merve, A.
|
Shah, S.
| +3
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3
TeleNEwCARe : An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases
enthalten in:
European journal of medical genetics
| 2023
von
Farnè, M.
|
Fortunato, F.
|
Neri, M.
| +18
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4
Facial nerve vulnerability in spinal muscular atrophy and motor unit number index of the orbicularis oculi muscle
enthalten in:
Muscle & nerve
| 2023
von
Barp, A.
|
Carraro, E.
|
Salmin, F.
| +3
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5
Parkinsonism may aggravate dysphagia in myotonic dystrophy type 1 : two case reports
enthalten in:
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
| 2023
von
Stano, S.
|
Barp, A.
|
Bacchin, R.
| +1
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6
Facial nerve vulnerability in spinal muscular atrophy and motor unit number index of the orbicularis oculi muscle
enthalten in:
Muscle & Nerve
| 2023
von
Barp, A.
|
Carraro, E.
|
Salmin, F.
| +3
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7
Body composition and myokines in a cohort of patients with Becker muscular dystrophy
enthalten in:
Muscle & nerve
| 2022
von
Barp, A.
|
Carraro, E.
|
Goggi, G.
| +8
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8
Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy
enthalten in:
Neuromuscular disorders : NMD
| 2022
von
Mayhew, A.
|
Moat, D.
|
McDermott, M.
| +49
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9
Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center
enthalten in:
Canadian respiratory journal
| 2022
von
Ferrari Aggradi, C.
|
Falcier, E.
|
Lizio, A.
| +14
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10
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
enthalten in:
HGG advances
| 2022
von
Falzarano, M.
|
Grilli, A.
|
Zia, S.
| +20
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Journal of neuro-oncology
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Thema
31
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10
Research Support, Non-U.S. Gov't
7
Case Reports
5
106441-73-0
5
Muscle MRI
5
Osteopontin
5
Research Support, N.I.H., Extramural
5
SPP1 protein, human
4
Duchenne muscular dystrophy
4
Dystrophin
4
Glucocorticoids
4
LGMDR1/LGMD2A
4
Letter
4
Mercuri score
3
Akinetic Mutism
3
Anterior Temporal Region
3
Cranial Nerve Palsy
3
Hypoglossal Canal
3
LTBP4 protein, human
3
Latent TGF-beta Binding Proteins
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Erscheinungszeitraum
27
2020-
32
2010-2019
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