Associated Papers
Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion.
Jabbarpour N et al.
Journal of Genetics, 2023
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
Abbasi-Moheb L et al.
Clinical Genetics, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Biallelic LINE insertion mutation in HACD1 causing congenital myopathy.
Al Amrani F et al.
Neurology. Genetics, 2020
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L21
Metabolism of very long-chain Fatty acids: genes and pathophysiology.
Sassa T et al.
Biomolecules & Therapeutics, 2014
Congenital myopathy is caused by mutation of HACD1.
Muhammad E et al.
Human Molecular Genetics, 2013
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