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Clinical Chemistry|August 19, 2007
Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosisStefania Stenirri, Gabriella Restagno, Giovanni Battista Ferrero, et al.
Neurobiology of Aging|September 17, 2011
Mutational analysis of the VCP gene in Parkinson's diseaseElisa Majounie, Bryan J Traynor, Adriano Chiò, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|March 7, 2013
Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genesOana M Mereuta, Simone Baldovino, Edoardo Errichiello, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|May 29, 2012
An ALS case with a novel D90N-SOD1 heterozygous missense mutationAndrea Calvo, Antonio Ilardi, Cristina Moglia, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|October 10, 2014
A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year courseAntonio Canosa, Andrea Calvo, Cristina Moglia, et al.
Human Genetics|February 28, 2003
No evidence of fetal DNA persistence in maternal plasma after pregnancyMaddalena Smid, Silvia Galbiati, Antonia Vassallo, et al.
BMC Nephrology|February 23, 2012
Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndromeGiorgina Barbara Piccoli, Laura Davico Bonino, Paola Campisi, et al.
Neurobiology of Aging|January 21, 2014
De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis caseAndrea Calvo, Cristina Moglia, Antonio Canosa, et al.
Haematologica|March 11, 2008
Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemiaSilvia Galbiati, Barbara Foglieni, Maurizio Travi, et al.
Neurobiology of Aging|July 6, 2010
A de novo missense mutation of the FUS gene in a "true" sporadic ALS caseAdriano Chiò, Andrea Calvo, Cristina Moglia, et al.
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