Congenital myopathy is caused by mutation of HACD1

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

(2012) Johann Böhm et al.   ACTA NEUROPATHOLOGICA

Congenital Myopathies: An Update

(2012) Jessica R. Nance et al.   Current Neurology and Neuroscience Reports

Lipids as organizers of cell membranes

(2012) Benoît Kornmann et al.   EMBO REPORTS

Very long-chain fatty acids: elongation, physiology and related disorders

(2012) A. Kihara   JOURNAL OF BIOCHEMISTRY

Making heads or tails of phospholipids in mitochondria

(2011) Christof Osman et al.   JOURNAL OF CELL BIOLOGY

Protein Tyrosine Phosphatase-Like A Regulates Myoblast Proliferation and Differentiation through MyoG and the Cell Cycling Signaling Pathway

(2011) X. Lin et al.   MOLECULAR AND CELLULAR BIOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The 2012 version of the gene table of monogenic neuromuscular disorders

(2011)   NEUROMUSCULAR DISORDERS

Cellular phospholipid uptake: Flexible paths to coregulate the functions of intracellular lipids

(2010) Bernd Engelmann et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Characterization of HACD1 K64Q mutant found in arrhythmogenic right ventricular dysplasia patients

(2010) H. Konishi et al.   JOURNAL OF BIOCHEMISTRY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Palmitoylation of the sphingosine 1-phosphate receptor S1P1is involved in its signaling functions and internalization

(2009) Yusuke Ohno et al.   GENES TO CELLS

Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases involved in very long-chain fatty acid synthesis

(2008) Mika Ikeda et al.   FEBS LETTERS

A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

(2008) A. C. Wiik et al.   GENOME RESEARCH

Membrane Topology and Essential Amino Acid Residues of Phs1, a 3-Hydroxyacyl-CoA Dehydratase Involved in Very Long-chain Fatty Acid Elongation

(2008) Akio Kihara et al.   JOURNAL OF BIOLOGICAL CHEMISTRY