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Biochemical and Biophysical Research Communications|July 29, 1994
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutationsS Kemp, M J Ligtenberg, B M van Geel, et al.Nature Genetics|June 11, 1992
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1AL J Valentijn, P A Bolhuis, I Zorn, et al.Nature Genetics|March 1, 1994
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsiesG A Nicholson, L J Valentijn, A K Cherryson, et al.Human Molecular Genetics|September 26, 1997
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular CenterJ Laporte, C Guiraud-Chaumeil, M C Vincent, et al.Acta Biomaterialia|April 25, 2026
Topical Hydrosulphide Ion Gels: A Paradigm Shift in Onychomycosis TreatmentS M Nasereddin, M M S Aly, A Al-Tabtabai, et al.Brain : a Journal of Neurology|August 26, 1998
Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutationP P Lenssen, A A Gabreëls-Festen, L J Valentijn, et al.American Journal of Human Genetics|October 23, 1997
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathiesP D'Adamo, L Fassone, A Gedeon, et al.Neurology|September 1, 1996
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth diseaseA A Gabreëls-Festen, J E Hoogendijk, P H Meijerink, et al.Journal of Neurology|September 19, 2000
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophyH B Ginjaar, A J van der Kooi, H Ceelie, et al.Human Molecular Genetics|July 1, 1996
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37M C Speer, R Tandan, P N Rao, et al.Pageof 14