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JAMA Neurology|October 9, 2013
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthoodRobert D S Pitceathly, Jan-Willem Taanman, Shamima Rahman, et al.
Neuromuscular Disorders : NMD|September 13, 2023
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosisDiana Esteller, Jasper Morrow, Jorge Alonso-Pérez, et al.
Journal of Medicinal Chemistry|April 10, 1999
Orally active isoxazoline glycoprotein IIb/IIIa antagonists with extended duration of actionR E Olson, T M Sielecki, J Wityak, et al.
Annals of Clinical and Translational Neurology|January 4, 2024
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2ACarolynne M Doherty, Jasper M Morrow, Riccardo Zuccarino, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
Back to the future: proceedings from the 2010 NF ConferenceSusan M Huson, Maria T Acosta, Allan J Belzberg, et al.
Pain|March 16, 2011
Selective blockade of TRPA1 channel attenuates pathological pain without altering noxious cold sensation or body temperature regulationJun Chen, Shailen K Joshi, Stanley DiDomenico, et al.
Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.
Cancer Research Communications|November 15, 2023
Longitudinal Natural History Study of Children and Adults with Rare Solid Tumors: Initial Results for First 200 ParticipantsShadin Ahmed, Mary Frances Wedekind, Jaydira Del Rivero, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 29, 2014
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysisV Fridman, B Bundy, M M Reilly, et al.
Medrxiv : the Preprint Server for Health Sciences|May 9, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of <i>PMP22</i> VariantsKailee S Ward, Christopher P Ptak, Natalya Pashkova, et al.
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