Hmsn (Charcot-Marie-Tooth)

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease
Michael Shy, Adriana P Rebelo, Shawna ME Feely, Lisa A Abreu, Feifei Tao, Andrea Swenson, Chelsea Bacon, Stephan Zuchner

Journal of Neurology, Neurosurgery & Psychiatry Mar 2018, 89 (3) 313-315; DOI: 10.1136/jnnp-2017-315929
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development
Manisha Juneja, Joshua Burns, Mario A Saporta, Vincent Timmerman

Journal of Neurology, Neurosurgery & Psychiatry Jan 2019, 90 (1) 58-67; DOI: 10.1136/jnnp-2018-318834
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation
M Frasquet, M J Chumillas, J J Vílchez, C Márquez-Infante, F Palau, J F Vázquez-Costa, V Lupo, C Espinós, T Sevilla

Journal of Neurology, Neurosurgery & Psychiatry Nov 2016, 87 (11) 1265-1268; DOI: 10.1136/jnnp-2015-312890
Is overwork weakness relevant in Charcot–Marie–Tooth disease?
G Piscosquito, M M Reilly, A Schenone, G M Fabrizi, T Cavallaro, L Santoro, G Vita, A Quattrone, L Padua, F Gemignani, F Visioli, M Laurà, D Calabrese, R A C Hughes, D Radice, A Solari, D Pareyson

Journal of Neurology, Neurosurgery & Psychiatry Dec 2014, 85 (12) 1354-1358; DOI: 10.1136/jnnp-2014-307598
Compound Charcot-Marie-Tooth disease: a kindred with severe hereditary neuropathy, pupil abnormalities and a novel MPZ mutation
Terence Young, Neil Shuey, Jonathan Partridge, Fion D Bremner, David J Nicholl

Journal of Neurology, Neurosurgery & Psychiatry Feb 2013, 84 (2) 234-236; DOI: 10.1136/jnnp-2012-302469
Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth disease
Sindhu Ramchandren, Michael Shy, Eva Feldman, Ruth Carlos, Carly Siskind

Journal of Neurology, Neurosurgery & Psychiatry Jun 2015, 86 (6) 635-639; DOI: 10.1136/jnnp-2013-307390
Vestibular impairment in Charcot-Marie-Tooth disease type 4C
Herminio Pérez-Garrigues, Rafael Sivera, Juan Jesús Vílchez, Carmen Espinós, Francesc Palau, Teresa Sevilla

Journal of Neurology, Neurosurgery & Psychiatry Jul 2014, 85 (7) 824-827; DOI: 10.1136/jnnp-2013-307421

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