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Neuromuscular Disorders : NMD|March 24, 2004
Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during agingF Chevessier, I Marty, M Paturneau-Jouas, et al.
Neuromuscular Disorders : NMD|December 9, 2003
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32Suna Onengüt, Sibel Aylin Uğur, Hatice Karasoy, et al.
Neuromuscular Disorders : NMD|December 9, 2003
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutationEriko Yasaki, Cassandra Prioleau, Julien Barbier, et al.
Neuromuscular Disorders : NMD|December 9, 2003
Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)M M O Tonini, M R Passos-Bueno, A Cerqueira, et al.
Neuromuscular Disorders : NMD|December 9, 2003
A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathyA-R Moslemi, C Lindberg, J Toft, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndromeD D de Vries, C J Buzing, W Ruitenbeek, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Immunoquantitation of carnitine palmitoyl transferase in skeletal muscle of 31 patientsG D Vladutiu, I Saponara, J M Conroy, et al.
Neuromuscular Disorders : NMD|January 22, 2004
Pilot trial of phenylbutyrate in spinal muscular atrophyEugenio Mercuri, Enrico Bertini, Sonia Messina, et al.
Neuromuscular Disorders : NMD|January 22, 2004
Cardiovascular autonomic control in myotonic dystrophy type 1: a correlative study with clinical and genetic dataRita Di Leo, Carmelo Rodolico, Cesare De Gregorio, et al.
Neuromuscular Disorders : NMD|January 22, 2004
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteinsF Saito, H Tomimitsu, K Arai, et al.
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