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PubPharm (391)
1
PIEZO2 in somatosensory neurons controls gastrointestinal transit
enthalten in:
bioRxiv.org
| 2024
von
Servin-Vences, M.
|
Lam, R.
|
Koolen, A.
| +9
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2
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
enthalten in:
bioRxiv.org
| 2024
von
Lemire, G.
|
Sanchis-Juan, A.
|
Russell, K.
| +61
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3
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants : Therapeutic implications
enthalten in:
HGG advances
| 2024
von
Geist Hauserman, J.
|
Laverty, C.
|
Donkervoort, S.
| +14
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4
Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy
enthalten in:
Molecular therapy. Nucleic acids
| 2024
von
Brull, A.
|
Sarathy, A.
|
Bolduc, V.
| +3
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5
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
enthalten in:
Science translational medicine
| 2024
von
Donkervoort, S.
|
van de Locht, M.
|
Ronchi, D.
| +41
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6
Spatial Summation of Localized Pressure for Haptic Sensory Prostheses
enthalten in:
arXiv.org
| 2024
von
Kodali, S.
|
Cruz, C.
|
Bulea, T.
| +4
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7
The recurrent deep intronic pseudoexon-inducing variant
COL6A1
c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
enthalten in:
bioRxiv.org
| 2024
von
Foley, A.
|
Bolduc, V.
|
Guirguis, F.
| +66
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8
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy : Towards clinical trial readiness for splice-modulating therapy
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Foley, A.
|
Bolduc, V.
|
Guirguis, F.
| +66
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9
Differential inclusion of
NEB
exons 143 and 144 provides insight into
NEB
-related myopathy variant interpretation and disease manifestation
enthalten in:
bioRxiv.org
| 2024
von
Silverstein, S.
|
Orbach, R.
|
Syeda, S.
| +8
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10
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
enthalten in:
American journal of human genetics
| 2024
von
Lemire, G.
|
Sanchis-Juan, A.
|
Russell, K.
| +61
UpdateOf: medRxiv. 2023 Oct 05;:. - PMID 37873196
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391
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22
Neuromuscular disorders : NMD
21
American journal of human genetics
20
Neurology
15
bioRxiv.org
14
Acta neuropathologica
14
Annals of neurology
14
Neuromuscular disorders
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Journal of neuromuscular diseases
11
Human mutation
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Muscle & nerve
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Neurogenetics
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Human molecular genetics
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Current neurology and neuroscience reports
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Journal of child neurology
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Brain : a journal of neurology
6
Nature communications
6
Orphanet journal of rare diseases
6
The Journal of clinical investigation
5
Annals of clinical and translational neurology
5
Archives of physical medicine and rehabilitation
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225
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112
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75
Research Support, N.I.H., Extramural
53
Research Support, N.I.H., Intramural
36
Case Reports
31
Collagen Type VI
26
Review
20
Muscle Proteins
17
Congenital myopathy
15
Biology
12
Dystrophin
11
Core myopathy
10
570
10
Dystroglycans
10
Laminin
10
Muscular dystrophy
9
146888-27-9
9
Centronuclear myopathy
9
Ryanodine Receptor Calcium Release Channel
9
congenital muscular dystrophy
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