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Unknown
(43)
Proteomics
(2)
Organisms
Quercus variabilis
(2)
Neisseria gonorrhoeae FA19
(2)
Mycobacterium tuberculosis CDC1551
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Brassica rapa subsp. rapa
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Cordyceps cf. militaris Chen-1999
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lake water metagenome
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pride
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Cardiovascular system disease
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2026
(1)
2022
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Lab affiliation
Proteomics Core Facility, University of Gothenburg, Sweden
(1)
Proteomics Core Facility, University of Gothenburg
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COX deficiency and leukoencephalopathy due to a novel homozygous
APOPT1/COA8
mutation.
Not available
S-EPMC7323480
|
biostudies-literature
Cite
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.
Not available
S-EPMC3992579
|
biostudies-literature
Cite
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.
Not available
S-EPMC5117942
|
biostudies-literature
Cite
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.
Not available
S-EPMC6066360
|
biostudies-literature
Cite
Deep sequencing of mitochondrial DNA and characterization of a novel
POLG
mutation in a patient with arPEO.
Not available
S-EPMC6975171
|
biostudies-literature
Cite
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
Not available
S-EPMC3421124
|
biostudies-literature
Cite
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.
Not available
S-EPMC6336879
|
biostudies-literature
Cite
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Not available
S-EPMC7447519
|
biostudies-literature
Cite
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.
Not available
S-EPMC9664609
|
biostudies-literature
Cite
Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways.
Not available
S-EPMC12531377
|
biostudies-literature
Cite
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