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Neurology|March 26, 2003
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathyS Rudnik-Schöneborn, H H Goebel, W Schlote, et al.European Journal of Cell Biology|June 1, 1999
Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscleR Schröder, I Warlo, H Herrmann, et al.Neurology|February 9, 2005
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated casesN G Laing, C Ceuterick-de Groote, D E Dye, et al.Neurology|February 17, 2010
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCLW Xin, T E Mullen, R Kiely, et al.Neurology|December 29, 2005
A mutation in myotilin causes spheroid body myopathyT Foroud, N Pankratz, A P Batchman, et al.Molecular Genetics and Metabolism|December 28, 2016
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dogM Hirz, M Drögemüller, A Schänzer, et al.Proceedings of the National Academy of Sciences of the United States of America|December 10, 1996
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophyB Hess, P Saftig, D Hartmann, et al.Journal of the Neurological Sciences|December 14, 2002
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscleC G Bönnemann, T G Thompson, P F M van der Ven, et al.Neuromuscular Disorders : NMD|October 29, 2000
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)L V Anderson, R M Harrison, R Pogue, et al.Nature Genetics|October 3, 1999
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathyK J Nowak, D Wattanasirichaigoon, H H Goebel, et al.Pageof 33