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Biomolecules|May 28, 2025
MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA MappingMartina Mietto, Silvia Montanari, Maria Sofia Falzarano, et al.
European Heart Journal|June 30, 2012
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspectiveClaudio Rapezzi, Candida Cristina Quarta, Laura Obici, et al.
Plos One|November 28, 2018
Workload measurement for molecular genetics laboratory: A survey studyEnrico Tagliafico, Isabella Bernardis, Marina Grasso, et al.
Neuromuscular Disorders : NMD|September 28, 2019
Report of a novel ATP7A mutation causing distal motor neuropathyFrancesca Gualandi, Elisabetta Sette, Fernanda Fortunato, et al.
Orphanet Journal of Rare Diseases|May 15, 2025
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care projectChristina Saier, Stefaan Sansen, Joanne Berghout, et al.
Frontiers in Physiology|July 26, 2021
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and PatientsRachele Rossi, Maria Sofia Falzarano, Hana Osman, et al.
Orphanet Journal of Rare Diseases|May 9, 2025
The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD SurveyMichelangelo Mancuso, Alessandro Colitta, Manuela Lavorato, et al.
European Journal of Heart Failure|August 3, 2018
Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failureChristian Gagliardi, Federico Perfetto, Massimiliano Lorenzini, et al.
Plos Currents|January 19, 2013
Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translationalPauline McCormack, Simon Woods, Annemieke Aartsma-Rus, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|February 13, 2008
Gender-related risk of myocardial involvement in systemic amyloidosisClaudio Rapezzi, Letizia Riva, Cristina C Quarta, et al.
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