1. 135 CMT with renal impairment: consider a dip. Issue 6 (27th May 2022) Authors: Doherty, Carolynne; Blake, Julian; Skorupinska, Mariola; Shah, Sachit; Laura, Matilde; Reilly, Mary Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 15.21 Next-generation sequencing in charcot-marie-tooth disease: opportunities and challenges. Issue 12 (14th November 2019) Authors: Pipis, Menelaos; Rossor, Alexander M; Doherty, Carolynne M; Laura, Matilde; Reilly, Mary M Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 12(2019) Page Start: e5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 238 Usefulness of concomitant peripheral nerve and muscle biopsy. Issue 12 (14th November 2019) Authors: Cooper, Rebecca; Bunting, Eva; Jaunmuktane, Zane; Merve, Ashirwad; Rosser, Alex; Laura, Matilde; Manji, Hadi; Reilly, Mary M; Lunn, Mike P; Carr, Aisling S Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 12(2019) Page Start: e58 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 88 The relationship between upper and lower limb function in a cohort of children with Charcot-Marie-tooth disease. (30th November 2020) Authors: Milev, Evelin; Laura, Matilde; Rand, Sarah; Walk-Ley, Melissa; Wolfe, Amy; Rye, Catherine; Reilly, Mary; Muntoni, Francesco Journal: Archives of disease in childhood Issue: Volume 105(2020)Supplement 2 Page Start: A30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. Issue 4 (11th September 2017) Authors: Tomaselli, Pedro J.; Rossor, Alexander M.; Horga, Alejandro; Laura, Matilde; Blake, Julian C.; Houlden, Henry; Reilly, Mary M. Journal: Journal of the peripheral nervous system Issue: Volume 22:Issue 4(2017) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A longitudinal and cross‐sectional study of plasma neurofilament light chain concentration in Charcot‐Marie‐Tooth disease. Issue 1 (9th December 2021) Authors: Rossor, Alexander Martin; Kapoor, Mahima; Wellington, Henny; Spaulding, Emily; Sleigh, James N.; Burgess, Robert W.; Laura, Matilde; Zetterberg, Henrik; Bacha, Alexa; Wu, Xingyao; Heslegrave, Amanda; Shy, Michael E.; Reilly, Mary M. Journal: Journal of the peripheral nervous system Issue: Volume 27:Issue 1(2022) Page Start: 50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. An observational study of asymmetry in CMT1A. Issue 5 (13th October 2014) Authors: Pelayo-Negro, Ana L; Carr, Aisling S; Laura, Matilde; Skorupinska, Mariola; Reilly, Mary M Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 86:Issue 5(2015) Page Start: 589 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Assessing mNIS+7Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial. Issue 5 (7th April 2017) Authors: Dyck, Peter J.; Kincaid, John C.; Dyck, P. James B.; Chaudhry, Vinay; Goyal, Namita A.; Alves, Christina; Salhi, Hayet; Wiesman, Janice F.; Labeyrie, Celine; Robinson‐Papp, Jessica; Cardoso, Márcio; Laura, Matilde; Ruzhansky, Katherine; Cortese, Andrea; Brannagan, Thomas H.; Khoury, Julie; Khella... Journal: Muscle & nerve Issue: Volume 56:Issue 5(2017) Page Start: 901 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease. (26th October 2021) Authors: Donlevy, Gabrielle A.; Garnett, Sarah P.; Cornett, Kayla M.D.; McKay, Marnee J.; Baldwin, Jennifer N.; Shy, Rosemary R.; Yum, Sabrina W.; Estilow, Timothy; Moroni, Isabella; Foscan, Maria; Pagliano, Emanuela; Pareyson, Davide; Laura, Matilde; Bhandari, Trupti; Muntoni, Francesco; Reilly, Mary M.;... Journal: Neurology Issue: Volume 97:Number 17(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease. (26th October 2021) Authors: Donlevy, Gabrielle A.; Garnett, Sarah P.; Cornett, Kayla M.D.; McKay, Marnee J.; Baldwin, Jennifer N.; Shy, Rosemary R.; Yum, Sabrina W.; Estilow, Timothy; Moroni, Isabella; Foscan, Maria; Pagliano, Emanuela; Pareyson, Davide; Laura, Matilde; Bhandari, Trupti; Muntoni, Francesco; Reilly, Mary M.;... Journal: Neurology Issue: Volume 97:Number 17(2021) Page Start: e1727 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗