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PubPharm (309)
1
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in
Drosophila
and Vici Syndrome patients
enthalten in:
bioRxiv.org
| 2024
von
Deneubourg, C.
|
Salimi Dafsari, H.
|
Lowe, S.
| +21
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2
Lessons Learned From Clinical Studies in Centronuclear Myopathies : The Patient Perspective-A Qualitative Study
enthalten in:
Clinical therapeutics
| 2024
von
Stinissen, L.
|
Böhm, J.
|
Bouma, S.
| +10
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3
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
enthalten in:
Nature genetics
| 2024
von
Töpf, A.
|
Cox, D.
|
Zaharieva, I.
| +82
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4
The myotubular and centronuclear myopathy patient registry : a multifunctional tool for translational research
enthalten in:
Neuromuscular disorders : NMD
| 2024
von
Bullivant, J.
|
Sen, A.
|
Page, J.
| +13
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5
"RYR1 and the cerebellum" : scientific commentary on "Defective Cerebellar Ryanodine Receptor Type 1 and Endoplasmic Reticulum Calcium 'Leak' in Tremor Pathophysiology"
enthalten in:
Acta neuropathologica
| 2024
von
Jungbluth, H.
|
Famili, D.
|
Helmich, R.
| +2
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6
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1 : real-world evidence from 6 infusion centres in the United Kingdom
enthalten in:
The Lancet regional health. Europe
| 2024
von
Gowda, V.
|
Atherton, M.
|
Murugan, A.
| +34
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7
The experience of clinical study and trial participation in rare diseases : A scoping review of centronuclear myopathy and other neuromuscular disorders
enthalten in:
Neuromuscular disorders : NMD
| 2023
von
Stinissen, L.
|
Bouma, S.
|
Böhm, J.
| +10
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8
Gene therapy for X-linked myotubular myopathy : the challenges
enthalten in:
The Lancet. Neurology
| 2023
von
Voermans, N.
|
Ferreiro, A.
|
Aartsema-Rus, A.
| +1
CommentOn: Lancet Neurol. 2023 Dec;22(12):1125-1139. - PMID 37977713
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9
Pancreatitis in RYR1-related disorders
enthalten in:
Neuromuscular disorders : NMD
| 2023
von
Famili, D.
|
Mistry, A.
|
Gerasimenko, O.
| +8
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10
Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations
enthalten in:
Acta physiologica (Oxford, England)
| 2023
von
Sonne, A.
|
Antonovic, A.
|
Melhedegaard, E.
| +8
CommentIn: Acta Physiol (Oxf). 2023 Dec;239(4):e14058. - PMID 37902162
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Neuromuscular disorders : NMD
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Brain : a journal of neurology
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Canadian journal of anesthesia
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Research Support, Non-U.S. Gov't
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Ryanodine Receptor Calcium Release Channel
44
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Research Support, N.I.H., Extramural
14
Muscle Proteins
11
Calcium
11
SY7Q814VUP
10
RYR1 protein, human
10
Skeletal muscle
9
malignant hyperthermia
9
myopathy
8
SELENON protein, human
8
Selenoproteins
7
Congress
7
Proteins
7
RYR1
6
Autophagy-Related Proteins
6
Congenital myopathy
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