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收藏Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
Forrester, Natalie; Rattihalli, Rohini; Horvath, Rita; Maggi, Lorenzo; Manzur, Adnan; Fuller, Geraint; Gutowski, Nicholas; Rankin, Julia; Dick, David; Buxton, Christopher; Greenslade, Mark; Majumdar, Anirban
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收藏Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
Pfeffer, Gerald; Gorman, Grainne S.; Griffin, Helen; Kurzawa-Akanbi, Marzena; Blakely, Emma L.; Wilson, Ian; Sitarz, Kamil; Moore, David; Murphy, Julie L.; Alston, Charlotte L.; Pyle, Angela; Coxhead, Jon; Payne, Brendan; Gorrie, George H.; Longman, Cheryl; Hadjivassiliou, Marios; McConville, John; Dick, David; Imam, Ibrahim; Hilton, David; Norwood, Fiona; Baker, Mark R.; Jaiser, Stephan R.; Yu-Wai-Man, Patrick; Farrell, Michael; McCarthy, Allan; Lynch, Timothy; McFarland, Robert; Schaefer, Andrew M.; Turnbull, Douglass M.; Horvath, Rita; Taylor, Robert W.; Chinnery, Patrick F.
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收藏Titin mutation segregates with hereditary myopathy with early respiratory failure
Pfeffer, Gerald; Elliott, Hannah R.; Griffin, Helen; Barresi, Rita; Miller, James; Marsh, Julie; Evila, Anni; Vihola, Anna; Hackman, Peter; Straub, Volker; Dick, David J.; Horvath, Rita; Santibanez-Koref, Mauro; Udd, Bjarne; Chinnery, Patrick F.
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收藏CHOLINERGIC CORRELATES OF COGNITIVE IMPAIRMENT IN PARKINSONS-DISEASE - COMPARISONS WITH ALZHEIMERS-DISEASE
PERRY, EK; CURTIS, M; DICK, DJ; CANDY, JM; ATACK, JR; BLOXHAM, CA; BLESSED, G; FAIRBAIRN, A; TOMLINSON, BE; PERRY, RH
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