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Year Number of Results
1962 1
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1970 1
1971 1
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1977 1
1978 2
1982 2
1983 1
1985 1
1988 2
1989 3
1990 2
1993 3
1994 2
1995 1
1996 5
1997 5
1998 1
1999 1
2002 1
2003 1
2004 1
2005 1
2006 1
2007 1
2008 3
2009 2
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66 results

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Page 1
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. Among authors: genis d. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. N Engl J Med. 2023. PMID: 36516086 Free PMC article.
Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients.
Alemany-Perna B, Tamarit J, Cabiscol E, Delaspre F, Miguela A, Huertas-Pons JM, Quiroga-Varela A, Merchan Ruiz M, López Domínguez D, Ramió I Torrentà L, Genís D, Ros J. Alemany-Perna B, et al. Among authors: genis d. Mov Disord. 2024 Jul;39(7):1099-1108. doi: 10.1002/mds.29808. Epub 2024 May 2. Mov Disord. 2024. PMID: 38696306
Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Pellerin D, et al. Among authors: genis d. medRxiv [Preprint]. 2024 Jul 3:2024.07.01.24309777. doi: 10.1101/2024.07.01.24309777. medRxiv. 2024. Update in: Brain. 2024 Oct 08:awae312. doi: 10.1093/brain/awae312. PMID: 39006414 Free PMC article. Updated. Preprint.
Ataxia rating scales--psychometric profiles, natural history and their application in clinical trials.
Saute JA, Donis KC, Serrano-Munuera C, Genis D, Ramirez LT, Mazzetti P, Pérez LV, Latorre P, Sequeiros J, Matilla-Dueñas A, Jardim LB; Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group. Saute JA, et al. Among authors: genis d. Cerebellum. 2012 Jun;11(2):488-504. doi: 10.1007/s12311-011-0316-8. Cerebellum. 2012. PMID: 21964941 Review.
Hemifacial spasm and hypothyroidism.
Genís D, Ricart W, Fernández-Real JM, Dávalos A, Molins A, Ferrándiz M. Genís D, et al. Lancet. 1993 Oct 30;342(8879):1112. doi: 10.1016/0140-6736(93)92092-8. Lancet. 1993. PMID: 8105329 No abstract available.
Wolfram syndrome: a neuropathological study.
Genís D, Dávalos A, Molins A, Ferrer I. Genís D, et al. Acta Neuropathol. 1997 Apr;93(4):426-9. doi: 10.1007/s004010050635. Acta Neuropathol. 1997. PMID: 9113209
Iron-related damage in acute ischemic stroke.
Dávalos A, Fernandez-Real JM, Ricart W, Soler S, Molins A, Planas E, Genís D. Dávalos A, et al. Among authors: genis d. Stroke. 1994 Aug;25(8):1543-6. doi: 10.1161/01.str.25.8.1543. Stroke. 1994. PMID: 8042204
Computed tomography in acute alcoholic myopathy.
Grau A, Pomes J, Davalos A, Gomez E, Sola P, Genis D. Grau A, et al. Among authors: genis d. J Comput Tomogr. 1988 Apr;12(2):161-4. doi: 10.1016/0149-936x(88)90075-6. J Comput Tomogr. 1988. PMID: 3168531
Oxygen-containing fragments in natural products.
Titarenko Z, Vasilevich N, Zernov V, Kirpichenok M, Genis D. Titarenko Z, et al. Among authors: genis d. J Comput Aided Mol Des. 2013 Feb;27(2):125-60. doi: 10.1007/s10822-012-9629-z. Epub 2012 Dec 28. J Comput Aided Mol Des. 2013. PMID: 23271273
Swallowing in degenerative ataxias.
Ramio-Torrentia L, Gomez E, Genis D. Ramio-Torrentia L, et al. Among authors: genis d. J Neurol. 2006 Jul;253(7):875-81. doi: 10.1007/s00415-006-0122-2. Epub 2006 Apr 20. J Neurol. 2006. PMID: 16619126 No abstract available.
66 results