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Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
Grosz BR, Stevanovski I, Negri S, Ellis M, Barnes S, Reddel S, Vucic S, Nicholson GA, Cortese A, Kumar KR, Deveson IW, Kennerson ML. Grosz BR, et al. Among authors: vucic s. J Peripher Nerv Syst. 2022 Jun;27(2):120-126. doi: 10.1111/jns.12485. Epub 2022 Mar 5. J Peripher Nerv Syst. 2022. PMID: 35224818
CMT with pyramidal features. Charcot-Marie-Tooth.
Vucic S, Kennerson M, Zhu D, Miedema E, Kok C, Nicholson GA. Vucic S, et al. Neurology. 2003 Feb 25;60(4):696-9. doi: 10.1212/01.wnl.0000048561.61921.71. Neurology. 2003. PMID: 12601114
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, Mayer M, Romero NB, Urtizberea JA, García-Bragado F, Guicheney P, Bitoun M, Carlier RY, North KN. Susman RD, et al. Among authors: vucic s. Neuromuscul Disord. 2010 Apr;20(4):229-37. doi: 10.1016/j.nmd.2010.02.016. Epub 2010 Mar 12. Neuromuscul Disord. 2010. PMID: 20227276
FOSMN syndrome: novel insight into disease pathophysiology.
Vucic S, Stein TD, Hedley-Whyte ET, Reddel SR, Tisch S, Kotschet K, Cros D, Kiernan MC. Vucic S, et al. Neurology. 2012 Jul 3;79(1):73-9. doi: 10.1212/WNL.0b013e31825dce13. Epub 2012 Jun 20. Neurology. 2012. PMID: 22722633
Apparent anticipation in SOD1 familial amyotrophic lateral sclerosis.
Vucic S, Nicholson GA, Chio A, Kiernan MC. Vucic S, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):452-6. doi: 10.3109/21678421.2013.764569. Epub 2013 Feb 15. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23414135
Pathophysiological insights into ALS with C9ORF72 expansions.
Williams KL, Fifita JA, Vucic S, Durnall JC, Kiernan MC, Blair IP, Nicholson GA. Williams KL, et al. Among authors: vucic s. J Neurol Neurosurg Psychiatry. 2013 Aug;84(8):931-5. doi: 10.1136/jnnp-2012-304529. Epub 2013 Mar 5. J Neurol Neurosurg Psychiatry. 2013. PMID: 23463871
380 results