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Neuroimaging Changes in Menkes Disease, Part 2

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

Publikováno v: AJNR Am J Neuroradiol

This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism ch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abc107bc1d0998ad2013ac94b781aaa3
https://europepmc.org/articles/PMC7963635/

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

Parapharyngeal neuroglial heterotopia in Pierre Robin sequence: MR imaging findings

Autor: Longo, D., Menchini, L., Delfino, L.N., Lozzi, S., Seganti, G., Diomedi-Camassei, F., Bottero, S., Malena, S., Fariello, G.

Publikováno v: In International Journal of Pediatric Otorhinolaryngology 2009 73(9):1308-1310

Emimegaloencefalia non Associata a Ritardo Mentale: Presentazione di un Caso Clinico

Autor: Fusco, L., Stefano Ferracuti, Fariello, G., Vigevano, M. Manfredi F.

Publikováno v: Sapienza Università di Roma-IRIS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::37fe86ae848f51c29607f77809745c12
http://hdl.handle.net/11573/495266