SQSTM1 mutation: Description of the first Tunisian case and literature review

Autor: M. Akkari, I. Kraoua, H. Klaa, H. Benrhouma, T. Ben Younes, A. Rouissi, M. Chaabouni, I. Ben Youssef‐Turki

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020)

Abstract Background Mutations in SQSTM1 gene have been recently identified as a rare cause of progressive childhood neurodegenerative disorder. So far, only 25 patients from 10 unrelated families were reported. Methods and results We report on the fi

Externí odkaz: https://doaj.org/article/0182cf0826954ad1b4be5ec314547efe

Assessing movement changes in degenerative ataxias: from the pre-ataxic disease stage to the effects of a bio-feedback intervention

Autor: Fleszar, Zofia Maria

Degenerative ataxias are a heterogenous group of movement disorders defined by progressive ataxia due to a degeneration of the cerebellum and its associated tracts, often of genetic origin. Disease-modifying drugs are still lacking for degenerative a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______707::bd99a0e75851b750e6c5a34fefa9ed89
https://hdl.handle.net/10900/113266

Diffusion-MRI in neurodegenerative disorders

Autor: Joseph Goveas a, Laurence O'Dwyer b, Mario Mascalchi c, d, Mirco Cosottini e, f, Stefano Diciotti g, Silvia De Santis h, Luca Passamonti i, Carlo Tessa j, Nicola Toschi k, l, m, Marco Giannelli n

Publikováno v: Magnetic resonance imaging 33 (2015): 853–876. doi:10.1016/j.mri.2015.04.006
info:cnr-pdr/source/autori:Joseph Goveas a, Laurence O'Dwyer b, Mario Mascalchi c,d, Mirco Cosottini e,f, Stefano Diciotti g, Silvia De Santis h, Luca Passamonti i, Carlo Tessa j, Nicola Toschi k,l,m, Marco Giannelli n/titolo:Diffusion-MRI in neurodegenerative disorders./doi:10.1016%2Fj.mri.2015.04.006/rivista:Magnetic resonance imaging/anno:2015/pagina_da:853/pagina_a:876/intervallo_pagine:853–876/volume:33

The ability to image the whole brain through ever more subtle and specific methods/contrasts has come to play a key role in understanding the basis of brain abnormalities in several diseases. In magnetic resonance imaging (MRI), “diffusion” (i.e.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45c072938c3af53e787173905f4d4971
http://hdl.handle.net/2108/134319

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