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PubPharm (1.032)
1
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in
DNAJB4
enthalten in:
bioRxiv.org
| 2024
von
Inoue, M.
|
Noguchi, S.
|
Inoue, Y.
| +15
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2
Pathologic Features of Anti-Ku Myositis
enthalten in:
Neurology
| 2024
von
Oyama, M.
|
Holzer, M.
|
Ohnuki, Y.
| +11
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3
Muscle pathology of antisynthetase syndrome according to antibody subtypes
enthalten in:
bioRxiv.org
| 2024
von
Tanboon, J.
|
Inoue, M.
|
Hirakawa, S.
| +7
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4
272nd ENMC international workshop : 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16-18 June 2023, Hoofddorp, The Netherlands
enthalten in:
Neuromuscular disorders : NMD
| 2024
von
Lilleker, J.
|
Naddaf, E.
|
Saris, C.
| +33
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5
X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement
enthalten in:
Internal medicine (Tokyo, Japan)
| 2024
von
Takeuchi, Y.
|
Masuda, T.
|
Kimura, N.
| +5
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6
Current and Future Status of Muscle Pathology : The Position of Muscle Pathology Diagnosis in the Future
enthalten in:
Brain and nerve = Shinkei kenkyu no shinpo
| 2024
von
Saito, Y.
|
Nishino, I.
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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
Author Correction : International Guideline for Idiopathic Inflammatory Myopathy-Associated Cancer Screening: an International Myositis Assessment and Clinical Studies Group (IMACS) initiative
enthalten in:
Nature reviews. Rheumatology
| 2024
von
Oldroyd, A.
|
Callen, J.
|
Chinoy, H.
| +77
ErratumFor: Nat Rev Rheumatol. 2023 Dec;19(12):805-817. - PMID 37945774
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9
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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10
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD
enthalten in:
Neurology. Genetics
| 2024
von
El Sherif, R.
|
Saito, Y.
|
Awaya, T.
| +2
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Neuromuscular disorders : NMD
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28
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24
Multienzyme Complexes
22
Creatine Kinase
22
EC 2.7.3.2
21
Dystrophin
21
Research Support, N.I.H., Extramural
21
UDP-N-acetylglucosamine 2-epimerase - N-acetylm...
20
146888-27-9
20
Dystroglycans
19
DNA, Mitochondrial
19
GZP2782OP0
19
N-Acetylneuraminic Acid
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