Browsing Centre for Clinical Pharmacology by Author "Wood, N"
Now showing items 1-3 of 3
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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
Chen, Z; Tucci, A; Cipriani, V; Gustavsson, EK; Ibanez, K; Reynolds, RH; Zhang, D; Vestito, L; Garcia, AC; Sethi, S (2023) -
Identification ofUBAP1mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Bourinaris, T; Smedley, D; Cipriani, V; Sheikh, I; Athanasiou-Fragkouli, A; Chinnery, P; Morris, H; Real, R; Harrison, V; Reid, E (2020-09-15) -
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset
Billingsley, KJ; Barbosa, IA; Bandres-Ciga, S; Quinn, JP; Bubb, VJ; Deshpande, C; Botia, JA; Reynolds, RH; Zhang, D; Simpson, MA (Springer Nature, 2019-05-22)Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully ...