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  • 1-2 ل  2 نتائج ل ""Cerebellar Ataxia/genetics""

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Homozygous GRN mutations: unexpected phenotypes and new insights into pathological and molecular mechanisms: New insights in homozygous GRN mutations

Subjects: Male; MESH: Epilepsy / genetics; MESH: Neuronal Ceroid-Lipofuscinoses / diagnostic imaging

  • Source: Brain, Vol. 143, No 1 (2020) pp. 303-319Brain-A Journal of NeurologyBrain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩

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Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

Subjects: Male; Genome instability; Cerebellar Ataxia

  • Source: Minocherhomji, S, Hansen, C, Kim, H G, Mang, Y, Bak, M, Guldberg, P, Papadopoulos, N, Eiberg, H, Doh, G D, Mollgard, K, Hertz, J M, Nielsen, J E, Ropers, H H, Tumer, Z, Tommerup, N, Kalscheuer, V M &

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  • 1-2 ل  2 نتائج ل ""Cerebellar Ataxia/genetics""