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Clinical Trials in Spinal and Bulbar Muscular Atrophy-Past, Present, and Future.
Weydt P, Sagnelli A, Rosenbohm A, Fratta P, Pradat PF, Ludolph AC, Pareyson D. Weydt P, et al. J Mol Neurosci. 2016 Mar;58(3):379-87. doi: 10.1007/s12031-015-0682-7. Epub 2015 Nov 14. J Mol Neurosci. 2016. PMID: 26572537 Review.
Despite important progress in the understanding of the molecular pathogenesis and the availability of a broad set of model organisms, successful translation of these insights into clinical interventions remains elusive. Here we review the available information on clinic …
Despite important progress in the understanding of the molecular pathogenesis and the availability of a broad set of model organisms, succes …
Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.
Pareyson D, Fratta P, Pradat PF, Sorarù G, Finsterer J, Vissing J, Jokela ME, Udd B, Ludolph AC, Sagnelli A, Weydt P. Pareyson D, et al. J Mol Neurosci. 2016 Mar;58(3):394-400. doi: 10.1007/s12031-015-0704-5. Epub 2016 Jan 7. J Mol Neurosci. 2016. PMID: 26744358
Its rarity, the slow disease progression, and lack of sensitive-to-change outcome measures render design and conduction of clinical trials a challenging task. Therefore, it is fundamental to strengthen the network of clinical centers interested in SBMA for clinic …
Its rarity, the slow disease progression, and lack of sensitive-to-change outcome measures render design and conduction of clinical t …
Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects.
Jöbsis GJ, Louwerse ES, de Visser M, Wolterman RA, Bolhuis PA, Busch HF, Brüggenwirth HT, Baas F, Wiersinga WM, Koelman JH, et al. Jöbsis GJ, et al. J Neurol Sci. 1995 May;129 Suppl:56-7. doi: 10.1016/0022-510x(95)00064-9. J Neurol Sci. 1995. PMID: 7595622 Free article. Clinical Trial.
Kennedy disease is caused by an enlarged trinucleotide repeat sequence within the androgen receptor gene. We report here seven male patients with a benign motor neuron syndrome highly analogous to Kennedy disease but with a normal trinucleotide repeat. …
Kennedy disease is caused by an enlarged trinucleotide repeat sequence within the androgen receptor gene. We report here seven …