Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

(2015) Johanna Palmio et al.   NEUROMUSCULAR DISORDERS

A.I.3

(2014) C.C. Weihl   NEUROMUSCULAR DISORDERS

‘Pathognomonic’ muscle imaging findings in DNAJB6 mutated LGMD1D

(2013) S. M. Sandell et al.   EUROPEAN JOURNAL OF NEUROLOGY

DNAJB6 myopathy: A vacuolar myopathy with childhood onset

(2013) Gerson Suarez-Cedeno et al.   MUSCLE & NERVE

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions

(2013) Takatoshi Sato et al.   NEUROMUSCULAR DISORDERS

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

(2012) Jaakko Sarparanta et al.   NATURE GENETICS

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

(2011) Matthew B. Harms et al.   ANNALS OF NEUROLOGY

Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers

(2010) Olayinka Raheem et al.   ACTA NEUROPATHOLOGICA

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy

(2010) S. Sandell et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands

(2008) Hans H. Goebel et al.   NEUROMUSCULAR DISORDERS

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

(2008) K.G. Claeys et al.   NEUROMUSCULAR DISORDERS