1. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Issue 2 (17th December 2014) Authors: Ankala, Arunkanth; da Silva, Cristina; Gualandi, Francesca; Ferlini, Alessandra; Bean, Lora J. H.; Collins, Christin; Tanner, Alice K.; Hegde, Madhuri R. Journal: Annals of neurology Issue: Volume 77:Issue 2(2015:Feb.) Page Start: 206 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant. Issue 4 (14th July 2022) Authors: Parmeggiani, Giulia; Gualandi, Francesca; Limarzi, Marco; Ferlini, Alessandra; Brotto, Davide; Martini, Alessandro; Sensi, Alberto Journal: Clinical dysmorphology Issue: Volume 31:Issue 4(2022) Page Start: 185 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Family with γ-Thalassemia and High Hb A2 Levels. (3rd May 2016) Authors: Parmeggiani, Giulia; Gualandi, Francesca; Selvatici, Rita; Rimessi, Paola; Bigoni, Stefania; Taddei Masieri, Marina; Dolcini, Bernadetta; Venturoli, Anna; Cappabianca, Maria P.; Ferlini, Alessandra; Ravani, Anna Journal: Hemoglobin Issue: Volume 40:Number 3(2016) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile. Issue 10 (3rd August 2020) Authors: Farnè, Marianna; Tedesco, Giovanna M.; Bedetti, Chiara; Mencarelli, Amedea; Rogaia, Daniela; Colavito, Davide; Di Cara, Giuseppe; Stangoni, Gabriela; Troiani, Stefania; Ferlini, Alessandra; Prontera, Paolo Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing. Issue 5 (19th March 2021) Authors: Nallamilli, Babi R. R.; Chaubey, Alka; Valencia, C. A.; Stansberry, Leah; Behlmann, Andrea M.; Ma, Zeqiang; Mathur, Abhinav; Shenoy, Suresh; Ganapathy, Vidya; Jagannathan, Lakshmanan; Ramachander, Vinish; Ferlini, Alessandra; Bean, Lora; Hegde, Madhuri Journal: Human mutation Issue: Volume 42:Issue 5(2021) Page Start: 626 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies. Issue 7 (11th June 2014) Authors: Ayoglu, Burcu; Chaouch, Amina; Lochmüller, Hanns; Politano, Luisa; Bertini, Enrico; Spitali, Pietro; Hiller, Monika; Niks, Eric H; Gualandi, Francesca; Pontén, Fredrik; Bushby, Kate; Aartsma‐Rus, Annemieke; Schwartz, Elena; Le Priol, Yannick; Straub, Volker; Uhlén, Mathias; Cirak, Sebahattin; 't ... Journal: EMBO molecular medicine Issue: Volume 6:Issue 7(2014:Jul.) Page Start: 918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Atrial fibrillation in amyloidotic cardiomyopathy: prevalence, incidence, risk factors and prognostic role. (September 2015) Authors: Longhi, Simone; Quarta, Candida Cristina; Milandri, Agnese; Lorenzini, Massimiliano; Gagliardi, Christian; Manuzzi, Lisa; Bacchi-Reggiani, Maria Letizia; Leone, Ornella; Ferlini, Alessandra; Russo, Antonio; Gallelli, Ilaria; Rapezzi, Claudio Journal: Amyloid Issue: Volume 22:Number 3(2015:Sep.) Page Start: 147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice. (12th December 2013) Authors: Falzarano, Maria Sofia; Passarelli, Chiara; Bassi, Elena; Fabris, Marina; Perrone, Daniela; Sabatelli, Patrizia; Maraldi, Nadir M.; Donà, Silvia; Selvatici, Rita; Bonaldo, Paolo; Sparnacci, Katia; Laus, Michele; Braghetta, Paola; Rimessi, Paola; Ferlini, Alessandra Other Names: Nakamura Akinori Academic Editor. Journal: BioMed research international Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies. (23rd January 2020) Authors: Milandri, Agnese; Farioli, Andrea; Gagliardi, Christian; Longhi, Simone; Salvi, Fabrizio; Curti, Stefania; Foffi, Serena; Caponetti, Angelo Giuseppe; Lorenzini, Massimiliano; Ferlini, Alessandra; Rimessi, Paola; Mattioli, Stefano; Violante, Francesco Saverio; Rapezzi, Claudio Journal: European journal of heart failure Issue: Volume 22:Number 3(2020) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Characterization of Hb Calvino (HBB: c.406G > A): A New Silent β-Globin Gene Variant Found in Coexistence with α-Thalassemia in a Family of African Origin. (October 2014) Authors: Marsella, Maria; Salvagno, Gianluca; Dolcini, Bernadetta; Ferlini, Alessandra; Ravani, Anna; Harteveld, Cornelis L.; Giordano, Piero C.; Borgna-Pignatti, Caterina Journal: Hemoglobin Issue: Volume 38:Number 5(2014) Page Start: 369 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗