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Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).
Not available
S-EPMC5001803
|
biostudies-literature
Cite
Non-muscle myosin II regulates presynaptic actin assemblies and neuronal mechanobiology in <i>Drosophila</i>.
Not available
S-EPMC10680633
|
biostudies-literature
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Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.
Not available
S-EPMC4691687
|
biostudies-literature
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3D-Analysis of a non-planispiral ammonoid from the Hunsruck Slate: natural or pathological variation?
Not available
S-EPMC5494166
|
biostudies-literature
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SNPeffect 5.0: large-scale structural phenotyping of protein coding variants extracted from next-generation sequencing data using AlphaFold models.
Not available
S-EPMC10355034
|
biostudies-literature
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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Not available
S-EPMC6066920
|
biostudies-literature
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Extending the clinical and mutational spectrum of
TRIM32
-related myopathies in a non-Hutterite population.
Not available
S-EPMC6581110
|
biostudies-literature
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Assessment of social cognition in patients with amyotrophic lateral sclerosis: protocol for a cross-sectional comparative study at Angers University Hospita.
Not available
S-EPMC12228468
|
biostudies-literature
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Deep scoping: a breeding strategy to preserve, reintroduce and exploit genetic variation.
Not available
S-EPMC8580937
|
biostudies-literature
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Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
Not available
S-EPMC3421125
|
biostudies-literature
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