Hmsn (Charcot-Marie-Tooth)

Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease
Christopher J Record, Menelaos Pipis, Roy Poh, James M Polke, Mary M Reilly

Journal of Neurology, Neurosurgery & Psychiatry Apr 2023, 94 (4) 327-328; DOI: 10.1136/jnnp-2022-330223
CMT2CC associated with NEFH mutations: a predominantly motor neuronopathy
Chiara Pisciotta, Davide Pareyson

Journal of Neurology, Neurosurgery & Psychiatry Jan 2022, 93 (1) 1; DOI: 10.1136/jnnp-2021-327438
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease
Eppie M Yiu, Paula Bray, Jonathan Baets, Steven K Baker, Nina Barisic, Katy de Valle, Timothy Estilow, Michelle A Farrar, Richard S Finkel, Jana Haberlová, Rachel A Kennedy, Isabella Moroni, Garth A Nicholson, Sindhu Ramchandren, Mary M Reilly, Kristy Rose, Michael E Shy, Carly E Siskind, Sabrina W Yum, Manoj P Menezes, Monique M Ryan, Joshua Burns

Journal of Neurology, Neurosurgery & Psychiatry May 2022, 93 (5) 530-538; DOI: 10.1136/jnnp-2021-328483
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
Menelaos Pipis, Andrea Cortese, James M Polke, Roy Poh, Jana Vandrovcova, Matilde Laura, Mariola Skorupinska, Arnaud Jacquier, Raul Juntas-Morales, Philippe Latour, Philippe Petiot, Guilhem Sole, Yves Fromes, Sachit Shah, Julian Blake, Byung-Ok Choi, Ki Wha Chung, Tanya Stojkovic, Alexander M Rossor, Mary M Reilly

Journal of Neurology, Neurosurgery & Psychiatry Jan 2022, 93 (1) 48-56; DOI: 10.1136/jnnp-2021-327186
Presence of colocalised phosphorylated TDP-43 and TFG proteins in the frontotemporal lobes of HMSN-P
Kengo Maeda, Ryo Idehara, Ken-ichi Mukaisho

Journal of Neurology, Neurosurgery & Psychiatry Nov 2020, 91 (11) 1231-1232; DOI: 10.1136/jnnp-2020-323506
CNS phenotype in X linked Charcot- Marie-Tooth disease
Vinojini Vivekanandam, Chandrashekar Hoskote, Alexander M Rossor, Mary M Reilly

Journal of Neurology, Neurosurgery & Psychiatry Sep 2019, 90 (9) 1068; DOI: 10.1136/jnnp-2018-319849
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
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
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
Ultrasound in the diagnosis of peripheral neuropathy: structure meets function in the neuromuscular clinic
Elena Gallardo, Yu-ichi Noto, Neil G Simon

Journal of Neurology, Neurosurgery & Psychiatry Oct 2015, 86 (10) 1066-1074; DOI: 10.1136/jnnp-2014-309599

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