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2014
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Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study.
Not available
S-EPMC6969418
|
biostudies-literature
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Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis).
Not available
S-EPMC4121541
|
biostudies-literature
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Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.
Not available
S-EPMC5838978
|
biostudies-literature
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CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease.
Not available
S-EPMC4821082
|
biostudies-literature
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Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
Not available
S-EPMC3953916
|
biostudies-literature
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Clinical features of facioscapulohumeral muscular dystrophy 2.
Not available
S-EPMC2974464
|
biostudies-literature
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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Not available
S-EPMC7568343
|
biostudies-literature
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Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
Not available
S-EPMC4863565
|
biostudies-literature
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