Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

(2018) Heinz Jungbluth et al.   Nature Reviews Neurology

Muscle MRI in neutral lipid storage disease (NLSD)

(2017) Matteo Garibaldi et al.   JOURNAL OF NEUROLOGY

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

(2016) Emilia Servián‐Morilla et al.   EMBO Molecular Medicine

Muscle type and fiber type specificity in muscle wasting

(2013) Stefano Ciciliot et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase

(2012) Nyamkhishig Sambuughin et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Congenital Fiber-Type Disproportion

(2011) Nigel F. Clarke   Seminars in Pediatric Neurology

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

(2010) Nyamkhishig Sambuughin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nemaline myopathy type 6: Clinical and myopathological features

(2010) Montse Olivé et al.   MUSCLE & NERVE

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

(2009) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY