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Neuromuscular Disorders : NMD|June 19, 2001
Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?J Philpot, S Counsell, G Bydder, et al.
Clinical Genetics|May 1, 1993
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counsellingM A Melis, M Cau, R Congiu, et al.
Human Genetics|August 1, 1993
Identification of a novel T-insertion polymorphism at the DMD locusF Muntoni, M Cau, R Congiu, et al.
FEBS Letters|April 27, 2001
Overexpressed human survival motor neurone isoforms, SMNDeltaexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distributionE Dodds, M G Dunckley, R G Roberts, et al.
Neuromuscular Disorders : NMD|March 10, 2015
Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1)C A Sewry, J L Holton, D J Dick, et al.
Neuropediatrics|February 1, 1995
Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin statusE Mercuri, F Muntoni, A Berardinelli, et al.
Neuromuscular Disorders : NMD|November 11, 2025
Respiratory management in spinal muscular atrophy: development of a global outcome measureL Edel, M Civitello, F Muntoni, et al.
Neuropediatrics|May 31, 2003
Occipito-temporal polymicrogyria and subclinical muscular dystrophyZ Zolkipli, L Hartley, S Brown, et al.
Neuromuscular Disorders : NMD|April 30, 1999
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imagingJ Philpot, F Cowan, J Pennock, et al.
European Neurology|January 1, 1992
Polymerase chain reaction analysis for specific HTLV-1 sequences from cerebrospinal fluid and peripheral blood cells in Sardinian multiple sclerosis patientsM G Marrosu, A P Mazzoleni, S Galantuomo, et al.
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