Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort

Giant axonal neuropathy (GAN) is an ultra-rare autosomal recessive, progressive neurodegenerative disease with early childhood onset that presents as a prominent sensorimotor neuropathy and commonly progresses to affect both the PNS and CNS. The disease is caused by biallelic mutations in the GAN ge...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2021-11, Vol.144 (10), p.3239-3250
Hauptverfasser:	Bharucha-Goebel, Diana X, Norato, Gina, Saade, Dimah, Paredes, Eduardo, Biancavilla, Victoria, Donkervoort, Sandra, Kaur, Rupleen, Lehky, Tanya, Fink, Margaret, Armao, Diane, Gray, Steven J, Waite, Melissa, Debs, Sarah, Averion, Gilberto, Hu, Ying, Zein, Wadih M, Foley, A Reghan, Jain, Minal, Bönnemann, Carsten G
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Child Child, Preschool Cohort Studies Cross-Sectional Studies Female Giant Axonal Neuropathy - diagnostic imaging Giant Axonal Neuropathy - genetics Giant Axonal Neuropathy - physiopathology Humans Male Original Young Adult
Online-Zugang:	Volltext
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