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Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden.
Orphanet J Rare Dis. 2021 Jun 10;16(1):266. doi: 10.1186/s13023-021-01910-5.
Orphanet J Rare Dis. 2021.
PMID: 34112225
Free PMC article.
Amyloidotic breast nodule in hereditary transthyretin amyloidosis (hATTR): a case report.
Cisneros-Barroso E, Losada-López I, González-Moreno J, Buades J, Ferrer-Nadal A, Ripoll-Vera T, Usón M, Figuerola A, Montalà JC, Descals C, Salva-Ramonell F, Torres-Rovira J, Gene-Heym A, Fernández-Burgos I, Soler T.
Cisneros-Barroso E, et al. Among authors: descals c.
Amyloid. 2019;26(sup1):59-60. doi: 10.1080/13506129.2019.1582521.
Amyloid. 2019.
PMID: 31343326
No abstract available.
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Multidisciplinary approach in the management of hATTR.
Losada I, González-Moreno J, Rodriguez A, Uson M, Ripoll-Vera T, Ferrer-Nadal A, Rigo E, Andreu H, Figuerola A, Montalà JC, Descals C, Álvarez J, Vega-Mañés F, Roig A, Cisneros-Barroso E.
Losada I, et al. Among authors: descals c.
Eur J Clin Invest. 2020 Oct;50(10):e13296. doi: 10.1111/eci.13296. Epub 2020 Aug 11.
Eur J Clin Invest. 2020.
PMID: 32474919
No abstract available.
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Anticipation on age at onset in kindreds with hereditary ATTRV30M amyloidosis from the Majorcan cluster.
Cisneros-Barroso E, González-Moreno J, Rodríguez A, Ripoll-Vera T, Álvarez J, Usón M, Figuerola A, Descals C, Montalá C, Ferrer-Nadal MA, Losada I.
Cisneros-Barroso E, et al. Among authors: descals c.
Amyloid. 2020 Dec;27(4):254-258. doi: 10.1080/13506129.2020.1789580. Epub 2020 Jul 7.
Amyloid. 2020.
PMID: 32633140
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Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study.
Adams D, Polydefkis M, González-Duarte A, Wixner J, Kristen AV, Schmidt HH, Berk JL, Losada López IA, Dispenzieri A, Quan D, Conceição IM, Slama MS, Gillmore JD, Kyriakides T, Ajroud-Driss S, Waddington-Cruz M, Mezei MM, Planté-Bordeneuve V, Attarian S, Mauricio E, Brannagan TH 3rd, Ueda M, Aldinc E, Wang JJ, White MT, Vest J, Berber E, Sweetser MT, Coelho T; patisiran Global OLE study group.
Adams D, et al.
Lancet Neurol. 2021 Jan;20(1):49-59. doi: 10.1016/S1474-4422(20)30368-9. Epub 2020 Nov 16.
Lancet Neurol. 2021.
PMID: 33212063
Clinical Trial.
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Validating the usefulness of Sudoscan in ATTRv: a single centre experience.
Moreno-Moraleda E, González-Moreno J, Cisneros-Barroso E, Ribot-Sansó MA, Ripoll-Vera T, Descals C, Uson M, Montalà JC, Figuerola A, Rodríguez A, Losada I.
Moreno-Moraleda E, et al. Among authors: descals c.
Neurol Sci. 2024 Jun;45(6):2859-2867. doi: 10.1007/s10072-024-07311-3. Epub 2024 Jan 23.
Neurol Sci. 2024.
PMID: 38261153
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Bodipy-VAD-Fmk, a useful tool to study yeast peptide N-glycanase activity.
Witte MD, Descals CV, de Lavoir SV, Florea BI, van der Marel GA, Overkleeft HS.
Witte MD, et al. Among authors: descals cv.
Org Biomol Chem. 2007 Nov 21;5(22):3690-7. doi: 10.1039/b711531h. Epub 2007 Aug 29.
Org Biomol Chem. 2007.
PMID: 17971999
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Self-reported sleepiness while driving as a risk factor for traffic accidents in patients with obstructive sleep apnoea syndrome and in non-apnoeic snorers.
Lloberes P, Levy G, Descals C, Sampol G, Roca A, Sagales T, de la Calzada MD.
Lloberes P, et al. Among authors: descals c.
Respir Med. 2000 Oct;94(10):971-6. doi: 10.1053/rmed.2000.0869.
Respir Med. 2000.
PMID: 11059950
Free article.
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