Laura Jarre

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

Caterina Mariotti, N Savarese, Anu Suomalainen et al. · Journal of Neurology · 1995 · 101 citations

Biology, Genetic Analysis, Mitochondrial Function +8

Homogeneous phenotype of the gypsy limb-girdle MD with the γ-sarcoglycan C283Y mutation

Luciano Merlini, J-C. Kaplan, Carmen Navarro et al. · Neurology · 2000 · 61 citations

Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects

Rita Barresi, Valeria Confalonieri, Massimo Lanfossi et al. · Acta Neuropathologica · 1997 · 45 citations

Concomitant Deficiency, Ophthalmology, Immunodeficiencies +5

LAMA2 stop-codon mutation: Merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression

Piernanda Vigliano, Patrizia Dassi, Claudia Di Blasi et al. · European Journal of Paediatric Neurology · 2008 · 44 citations

Rare Diseases, Developmental Biology, Occipital Polymicrogyria +9

Manganese Intoxication: The Cause of an Inexplicable Epileptic Syndrome in a 3 Year Old Child

Elena Herrero Hernández, G Discalzi, Patrizia Dassi et al. · NeuroToxicology · 2003 · 40 citations

Inexplicable Epileptic Syndrome, Neurology, Year Old Child +1