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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: hammans sr. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F. Sarkozy A, et al. J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3. J Neurol Neurosurg Psychiatry. 2018. PMID: 29437916
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
Douglas AG, Andreoletti G, Talbot K, Hammans SR, Singh J, Whitney A, Ennis S, Foulds NC. Douglas AG, et al. Among authors: hammans sr. Neurogenetics. 2017 Apr;18(2):111-117. doi: 10.1007/s10048-017-0510-z. Epub 2017 Feb 22. Neurogenetics. 2017. PMID: 28229249 Free PMC article.
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, Tüfekçioglu Z, Hanagasi H, Burke G, Foulds N, Hammans SR, Bhattacharjee A, Wilson H, Adams M, Walker M, Nicoll JA, Chataway J, Fox N, Davagnanam I, Phadke R, Houlden H. Lynch DS, et al. Among authors: hammans sr. JAMA Neurol. 2016 Dec 1;73(12):1433-1439. doi: 10.1001/jamaneurol.2016.2229. JAMA Neurol. 2016. PMID: 27749956
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.
Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T. Morís G, et al. Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7. Muscle Nerve. 2018. PMID: 29053898 Free PMC article.
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
Tajsharghi H, Hammans S, Lindberg C, Lossos A, Clarke NF, Mazanti I, Waddell LB, Fellig Y, Foulds N, Katifi H, Webster R, Raheem O, Udd B, Argov Z, Oldfors A. Tajsharghi H, et al. Eur J Hum Genet. 2014 Jun;22(6):801-8. doi: 10.1038/ejhg.2013.250. Epub 2013 Nov 6. Eur J Hum Genet. 2014. PMID: 24193343 Free PMC article.
67 results