1. A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia. Issue 9 (1st July 2015) Authors: Di Blasi, Claudia; Sansanelli, Serena; Ruggieri, Alessandra; Moriggi, Manuela; Vasso, Michele; D'Adamo, Adamo Pio; Blasevich, Flavia; Zanotti, Simona; Paolini, Cecilia; Protasi, Feliciano; Tezzon, Frediano; Gelfi, Cecilia; Morandi, Lucia; Pessia, Mauro; Mora, Marina Journal: Journal of medical genetics Issue: Volume 52:Issue 9(2015) Page Start: 617 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community. (13th February 2017) Authors: Mora, Marina; Bragato, Cinzia; Gibertini, Sara; Zanotti, Simona; Curcio, Maurizio; Canioni, Eleonora; Salerno, Franco; Blasevich, Flavia; Saredi, Simona; Ruggieri, Alessandra; Pasanisi, Maria Barbara; Bernasconi, Pia; Maggi, Lorenzo; Mantegazza, Renato; Andreetta, Francesca Journal: Open journal of bioresources Issue: Volume 4(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. (November 2015) Authors: Heimer, Gali; Sadaka, Yair; Israelian, Lori; Feiglin, Ariel; Ruggieri, Alessandra; Marshall, Christian R.; Scherer, Stephen W.; Ganelin-Cohen, Esther; Marek-Yagel, Dina; Tzadok, Michal; Nissenkorn, Andreea; Anikster, Yair; Minassian, Berge A.; Zeev, Bruria Ben Journal: Journal of child neurology Issue: Volume 30:Number 13(2015:Nov.) Page Start: 1749 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy. Issue 4 (7th March 2019) Authors: Alkhater, Reem A.; Wang, Peixiang; Ruggieri, Alessandra; Israelian, Lori; Walker, Susan; Scherer, Stephen W.; Smith, Mary Lou; Minassian, Berge A. Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 4(2019) Page Start: 807 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the central nervous system disease spectrum associated with FLNC mutation. Issue 5 (20th February 2019) Authors: Previtali, Stefano C.; Scarlato, Marina; Vezzulli, Paolo; Ruggieri, Alessandra; Velardo, Daniele; Benedetti, Sara; Torini, Giacomo; Colombo, Bruno; Maggi, Lorenzo; Di Bella, Daniela; Gellera, Cinzia; D'Angelo, Grazia; Mora, Marina Journal: Muscle & nerve Issue: Volume 59:Issue 5(2019) Page Start: E33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021) Authors: Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El... Journal: Autophagy Issue: Volume 17:Issue 1(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021) Authors: Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El... Journal: Autophagy Issue: Volume 17:Issue 1(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Late adult‐onset of X‐linked myopathy with excessive autophagy. Issue 1 (17th May 2014) Authors: Crockett, Cameron D.; Ruggieri, Alessandra; Gujrati, Meena; Zallek, Christopher M.; Ramachandran, Nivetha; Minassian, Berge A.; Moore, Steven A. Journal: Muscle & nerve Issue: Volume 50:Issue 1(2014:Jul.) Page Start: 138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. (5th July 2016) Authors: Savarese, Marco; Di Fruscio, Giuseppina; Torella, Annalaura; Fiorillo, Chiara; Magri, Francesca; Fanin, Marina; Ruggiero, Lucia; Ricci, Giulia; Astrea, Guja; Passamano, Luigia; Ruggieri, Alessandra; Ronchi, Dario; Tasca, Giorgio; D'Amico, Adele; Janssens, Sandra; Farina, Olimpia; Mutarelli, Margh... Journal: Neurology Issue: Volume 87:Number 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗