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Neuroimaging Changes in Menkes Disease, Part 1

Autor: Manara, R, D'Agata, L, Rocco, Mc, Cusmai, R, Freri, E, Pinelli, L, Darra, Francesca, Procopio, E, Mardari, R, Zanus, C, Di Rosa, G, Soddu, C, Severino, M, Ermani, M, Longo, D, Sartori, S, Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases: Toldo, I, Peruzzi, C, Vittorini, R, Spalice, A, Fusco, C, Nosadini, M, Farina, L, Stecco, A, Polonara, G, Donati, Ma, Giordano, L, Dionisi Vici, C, Martinelli, D, Tocchet, A, Fariello, G, Nicita, F, Frattini, D, Martelli, P, Cantalupo, Gaetano, Zennaro, F.

Publikováno v: AJNR Am J Neuroradiol

Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28967a1da0d66985f44acfe99ae8f29a
https://europepmc.org/articles/PMC7963639/

Comparative analysis of cortical anatomy in male participants with internet gaming disorder or tobacco use disorder: Insights from normative modeling.

Autor: Ma, Xuefeng^1,2 (AUTHOR), Jiang, Anhang² (AUTHOR), Dai, Junhong² (AUTHOR), Li, Shuang² (AUTHOR), Chen, Hongan² (AUTHOR), Xie, Yong² (AUTHOR), Wang, Shizhen² (AUTHOR), Yang, Bo² (AUTHOR), Wang, Lingxiao^2,3,4 (AUTHOR), Dong, Guang-Heng¹ (AUTHOR) dongguangheng@ynnu.edu.cn

Publikováno v: Journal of Behavioral Addictions. Sep2024, Vol. 13 Issue 3, p841-853. 13p.

New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency

Autor: Dionisi-Vici, C., Ruitenbeek, W., Fariello, G., Bentlage, H., Wanders, R. J., Schägger, H., Bosman, C., Piantadosi, C., Sabetta, G., Bertini, E.

Publikováno v: Annals of Neurology, 42, 4, pp. 661-665
Annals of Neurology, 42, 661-665
Annals of Neurology, 42, pp. 661-665
Annals of neurology, 42(4), 661-665. John Wiley and Sons Inc.

Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::461856d668e0a739121ccd7660162cb7
https://doi.org/10.1002/ana.410420419