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Neurology|October 14, 2005
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaG Zanni, Y Saillour, M Nagara, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|November 3, 2001
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblastsP Sabatelli, P Bonaldo, G Lattanzi, et al.
Neuropediatrics|October 12, 2005
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutationE Bertini, M A Donati, P Broda, et al.
Neurology|February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 familiesG Lesca, E Eymard-Pierre, F M Santorelli, et al.
American Journal of Medical Genetics|July 12, 1996
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pterV des Portes, L Bachner, T Brüls, et al.
Physical Review Letters|November 3, 2018
Experimental Determination of Irreversible Entropy Production in out-of-Equilibrium Mesoscopic Quantum SystemsM Brunelli, L Fusco, R Landig, et al.
Neurology|March 14, 2001
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndromeR Carrozzo, A Tessa, M E Vázquez-Memije, et al.
Human Mutation|March 26, 2003
Mutation analysis in 16 patients with mtDNA depletionR Carrozzo, B Bornstein, S Lucioli, et al.
Nature Genetics|December 1, 1996
Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13T D Taylor, M Litt, P Kramer, et al.
Epilepsia|March 1, 1997
Early-onset benign occipital seizure susceptibility syndromeC D Ferrie, A Beaumanoir, R Guerrini, et al.
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