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PubPharm (17)
1
Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene
enthalten in:
Child neurology open
| 2022
von
Willis, E.
|
Moore, S.
|
Cox, M.
| +4
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2
Clinical Reasoning : A 6-Year-Old Boy With Muscle Twitching
enthalten in:
Neurology
| 2021
von
Lewis, H.
|
Srinivasa Sekaran, B.
|
Stefans, V.
| +1
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3
Combination molecular therapies for type 1 spinal muscular atrophy
enthalten in:
Muscle & nerve
| 2020
von
Harada, Y.
|
Rao, V.
|
Arya, K.
| +7
CommentIn: Muscle Nerve. 2021 Mar;63(3):279-281. - PMID 33118639
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4
BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement : A Case Report and Literature Review
enthalten in:
Journal of clinical neuromuscular disease
| 2020
von
Malatesta, L.
|
Arya, K.
|
Gokden, M.
| +2
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5
Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation
enthalten in:
Journal of clinical neuromuscular disease
| 2020
von
Saylam, E.
|
Aravindhan, A.
|
Stefans, V.
| +1
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6
A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
enthalten in:
Neurology. Genetics
| 2020
von
Saylam, E.
|
Moore, S.
|
Aravindhan, A.
| +6
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7
Combination molecular therapies for type 1 spinal muscular atrophy
enthalten in:
Muscle & Nerve
| 2020
von
Harada, Y.
|
Rao, V.
|
Arya, K.
| +7
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8
Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome
enthalten in:
American journal of medical genetics. Part A
| 2019
von
Zarate, Y.
|
Boccuto, L.
|
Srikanth, S.
| +7
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9
Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2019
von
Zarate, Y.
|
Boccuto, L.
|
Srikanth, S.
| +7
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10
Toxic Myopathy due to Antidopaminergic Medication Without Neuroleptic Malignant Syndrome
enthalten in:
Journal of clinical neuromuscular disease
| 2018
von
Harada, Y.
|
Virmani, T.
|
Gokden, M.
| +1
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1
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Journal of clinical neuromuscular disease
2
Archives of physical medicine and rehabilitation
2
Human mutation
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American Journal of Medical Genetics Part C: Se...
1
American journal of medical genetics. Part A
1
Archives of clinical neuropsychology
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Child neurology open
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1
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10
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8
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4
Research Support, Non-U.S. Gov't
3
dystroglycanopathy
2
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2
Research Support, N.I.H., Extramural
2
Review
2
congenital muscular dystrophy
2
congenital myasthenic syndrome
1
146888-27-9
1
5Z9SP3X666
1
6UKA5VEJ6X
1
AKT
1
Adaptor Proteins, Signal Transducing
1
Adult-onset
1
Apoptosis Regulatory Proteins
1
BAG3 protein, human
1
Biological Products
1
Codon, Nonsense
1
Creatine Kinase
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