1. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs). Issue 1 (27th May 2019) Authors: Pareyson, Davide; Stojkovic, Tanya; Reilly, Mary M.; Leonard‐Louis, Sarah; Laurà, Matilde; Blake, Julian; Parman, Yesim; Battaloglu, Esra; Tazir, Meriem; Bellatache, Mounia; Bonello‐Palot, Nathalie; Lévy, Nicolas; Sacconi, Sabrina; Guimarães‐Costa, Raquel; Attarian, Sharham; Latour, Philippe; Sol... Journal: Annals of neurology Issue: Volume 86:Issue 1(2019) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2. Issue 4 (December 2015) Authors: Scarlato, Marina; Viganò, Fiammetta; Carrera, Paola; Previtali, Stefano Carlo; Bolino, Alessandra Journal: Journal of the peripheral nervous system Issue: Volume 20:Issue 4(2015) Page Start: 419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'. Issue 2 (19th June 2013) Authors: Luigetti, Marco; Bolino, Alessandra; Scarlino, Stefania; Sabatelli, Mario Journal: Journal of the peripheral nervous system Issue: Volume 18:Issue 2(2013) Page Start: 192 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the spectrum of genes responsible for hereditary motor neuropathies. Issue 10 (5th June 2019) Authors: Previtali, Stefano C.; Zhao, Edward; Lazarevic, Dejan; Pipitone, Giovanni Battista; Fabrizi, Gian Maria; Manganelli, Fiore; Mazzeo, Anna; Pareyson, Davide; Schenone, Angelo; Taroni, Franco; Vita, Giuseppe; Bellone, Emilia; Ferrarini, Moreno; Garibaldi, Matteo; Magri, Stefania; Padua, Luca; Pennis... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 10(2019) Page Start: 1171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Issue 1 (2nd January 2016) Authors: Klionsky, Daniel J; Abdelmohsen, Kotb; Abe, Akihisa; Abedin, Md Joynal; Abeliovich, Hagai; Acevedo Arozena, Abraham; Adachi, Hiroaki; Adams, Christopher M; Adams, Peter D; Adeli, Khosrow; Adhihetty, Peter J; Adler, Sharon G; Agam, Galila; Agarwal, Rajesh; Aghi, Manish K; Agnello, Maria; Agostinis... Journal: Autophagy Issue: Volume 12:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot–Marie–Tooth and distal hereditary motor neuropathy. Issue 9 (26th July 2010) Authors: Solla, Paolo; Vannelli, Alessandro; Bolino, Alessandra; Marrosu, Giovanni; Coviello, Silvia; Murru, Maria Rita; Tranquilli, Stefania; Corongiu, Daniela; Benedetti, Sara; Marrosu, Maria Giovanna Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 81:Issue 9(2010) Page Start: 958 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Meeting Report: 2013 Peripheral Nerve Society Biennial Meeting, Saint‐Malo, France, June 29–July 3, 2013. Issue 3 (12th September 2013) Authors: Nobile‐Orazio, Eduardo; Léger, Jean‐Marc; Lewis, Richard A.; Bolino, Alessandra; Shy, Michael E.; Cornblath, David R. Journal: Journal of the peripheral nervous system Issue: Volume 18:Issue 3(2013) Page Start: 197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy. (21st November 2022) Authors: Cipriani, Silvia; Guerrero‐Valero, Marta; Tozza, Stefano; Zhao, Edward; Vollmer, Veith; Beijer, Danique; Danzi, Matt; Rivellini, Cristina; Lazarevic, Dejan; Pipitone, Giovanni Battista; Grosz, Bianca Rose; Lamperti, Costanza; Marzoli, Stefania Bianchi; Carrera, Paola; Devoto, Marcella; Pisci... Journal: European journal of neurology Issue: Volume 30:Number 2(2023) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Myotubularins and associated neuromuscular diseases. (April 2012) Authors: Tronchère, Hélène; Bolino, Alessandra; Laporte, Jocelyn; Payrastre, Bernard Journal: Clinical lipidology Issue: Volume 7:Number 2(2012) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Nerve pathology in animal models of neuropathies. (9th September 2021) Authors: Carozzi, Valentina Alda; Bolino, Alessandra; D'Antonio, Maurizio; Quattrini, Angelo; Cavaletti, Guido Journal: Journal of the peripheral nervous system Issue: Volume 25(2021)Supplement 2 Page Start: S61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗