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Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Ravenscroft G, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG. Ravenscroft G, et al. Among authors: blumbergs p. Neuromuscul Disord. 2013 Feb;23(2):165-9. doi: 10.1016/j.nmd.2012.11.005. Epub 2012 Dec 3. Neuromuscul Disord. 2013. PMID: 23218673
Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.
Dobson-Stone C, Luty AA, Thompson EM, Blumbergs P, Brooks WS, Short CL, Field CD, Panegyres PK, Hecker J, Solski JA, Blair IP, Fullerton JM, Halliday GM, Schofield PR, Kwok JB. Dobson-Stone C, et al. Among authors: blumbergs p. Acta Neuropathol. 2013 Apr;125(4):523-33. doi: 10.1007/s00401-013-1078-9. Epub 2013 Jan 22. Acta Neuropathol. 2013. PMID: 23338750 Free PMC article.
Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy.
Ruggieri A, Ramachandran N, Wang P, Haan E, Kneebone C, Manavis J, Morandi L, Moroni I, Blumbergs P, Mora M, Minassian BA. Ruggieri A, et al. Among authors: blumbergs p. Neuromuscul Disord. 2015 Mar;25(3):207-11. doi: 10.1016/j.nmd.2014.11.014. Epub 2014 Nov 26. Neuromuscul Disord. 2015. PMID: 25683699
The causes of sporadic and 'senile' chorea.
Warren JD, Firgaira F, Thompson EM, Kneebone CS, Blumbergs PC, Thompson PD. Warren JD, et al. Among authors: blumbergs pc. Aust N Z J Med. 1998 Aug;28(4):429-31. doi: 10.1111/j.1445-5994.1998.tb02075.x. Aust N Z J Med. 1998. PMID: 9777108
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Dobson-Stone C, Hallupp M, Shahheydari H, Ragagnin AMG, Chatterton Z, Carew-Jones F, Shepherd CE, Stefen H, Paric E, Fath T, Thompson EM, Blumbergs P, Short CL, Field CD, Panegyres PK, Hecker J, Nicholson G, Shaw AD, Fullerton JM, Luty AA, Schofield PR, Brooks WS, Rajan N, Bennett MF, Bahlo M, Landers JE, Piguet O, Hodges JR, Halliday GM, Topp SD, Smith BN, Shaw CE, McCann E, Fifita JA, Williams KL, Atkin JD, Blair IP, Kwok JB. Dobson-Stone C, et al. Among authors: blumbergs p. Brain. 2020 Mar 1;143(3):783-799. doi: 10.1093/brain/awaa039. Brain. 2020. PMID: 32185393 Free PMC article.
260 results