1. A misleading presentation of Mohr–Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?. (September 2022) Authors: Geroldi, Alessandro; Trevisan, Lucia; Gaudio, Andrea; Gotta, Fabio; Patrone, Serena; Origone, Paola; Grandis, Marina; Gemelli, Chiara; Schenone, Angelo; Accogli, Andrea; Zara, Federico; Mandich, Paola; Bellone, Emilia Journal: Parkinsonism & related disorders Issue: Volume 102(2022) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel homozygous AP4B1 mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies. Issue 4 (12th February 2018) Authors: Accogli, Andrea; Hamdan, Fadi F.; Poulin, Chantal; Nassif, Christina; Rouleau, Guy A.; Michaud, Jacques L.; Srour, Myriam Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 985 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions. Issue 3 (5th January 2018) Authors: Scala, Marcello; Accogli, Andrea; De Grandis, Elisa; Allegri, Anna; Bagowski, Christoph P.; Shoukier, Moneef; Maghnie, Mohamad; Capra, Valeria Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel Xp22.13 microdeletion in Nance‐Horan syndrome. Issue 11 (2nd May 2017) Authors: Accogli, Andrea; Traverso, Monica; Madia, Francesca; Bellini, Tommaso; Vari, Maria Stella; Pinto, Francesca; Capra, Valeria Journal: Birth defects research Issue: Volume 109:Issue 11(2017) Page Start: 866 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An eleven-year history of Vanishing White Matter Disease in an adult patient with no cognitive decline and EIF2B5 mutations. A case report. Issue 6 (2nd November 2021) Authors: Trevisan, Lucia; Grazzini, Matteo; Cianflone, Annalia; Accogli, Andrea; Finocchi, Cinzia; Capello, Elisabetta; Saitta, Laura; Grandis, Marina; Roccatagliata, Luca; Mandich, Paola Journal: Neurocase Issue: Volume 27:Issue 6(2021) Page Start: 452 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?. (March 2015) Authors: Accogli, Andrea; Pacetti, Mattia; Fiaschi, Pietro; Pavanello, Marco; Piatelli, Gianluca; Nuzzi, Daniele; Baldi, Maurizia; Tassano, Elisa; Severino, Maria Savina; Allegri, Anna; Capra, Valeria Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 646 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome. (2nd March 2021) Authors: Masnada, Silvia; Pichiecchio, Anna; Formica, Manuela; Arrigoni, Filippo; Borrelli, Paola; Accorsi, Patrizia; Bonanni, Paolo; Borgatti, Renato; Bernardina, Bernardo Dalla; Danieli, Alberto; Darra, Francesca; Deconinck, Nicolas; De Giorgis, Valentina; Dulac, Olivier; Gataullina, Svetlana; Giordano,... Journal: Neurology Issue: Volume 96:Number 9(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease. (February 2019) Authors: Accogli, Andrea; Guerrero, Kether; D'Agostino, Maria Daniela; Tran, Luan; Cieuta-Walti, Cécile; Thiffault, Isabelle; Chénier, Sébastien; Schwartzentruber, Jeremy; Majewski, Jacek; Bernard, Geneviève Journal: Journal of child neurology Issue: Volume 34:Number 2(2019:Feb.) Page Start: 74 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34. Issue 11 (29th July 2019) Authors: Shaheen, Ranad; Mark, Paul; Prevost, Christopher T.; AlKindi, Adila; Alhag, Ahmad; Estwani, Fatima; Al‐Sheddi, Tarfa; Alobeid, Eman; Alenazi, Mona M.; Ewida, Nour; Ibrahim, Niema; Hashem, Mais; Abdulwahab, Firdous; Bryant, Emily M.; Spinelli, Egidio; Millichap, John; Barnett, Sarah S.; Kearney, H... Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 2108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy. (10th August 2021) Authors: Accogli, Andrea; Wiegand, Gert; Scala, Marcello; Cerminara, Caterina; Iacomino, Michele; Riva, Antonella; Carlini, Barbara; Camerota, Letizia; Belcastro, Vincenzo; Prontera, Paolo; Fernández-Jaén, Alberto; Bebek, Nerses; Scudieri, Paolo; Baldassari, Simona; Salpietro, Vincenzo; Novelli, Giuseppe;... Journal: Neurology Issue: Volume 97:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗