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TITLE: Beyond genetics: Deciphering the impact of missense variants in CAD deficiency  Full Text
AUTHORS: del Cano Ochoa, Francisco; Ng, Bobby G.; Rubio del Campo, Antonio; Mahajan, Sonal; Wilson, Matthew P.; Vilar, Marcal; Rymen, Daisy; Sanchez Pintos, Paula; Kenny, Joanna; Ley Martos, Myriam; Campos, Teresa; Wortmann, Saskia B.; Freeze, Hudson H.; Ramon Maiques, Santiago;
PUBLISHED: 2023, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
INDEXED IN: Scopus WOS
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TITLE: Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series  Full Text
AUTHORS: Natalie S Ryan; Jennifer M Nicholas; Philip S J Weston; Yuying Y Liang; Tammaryn Lashley; Rita Guerreiro; Gary Adamson; Janna Kenny; Jon Beck; Lucia Chavez Gutierrez; Bart de Strooper; Tamas Revesz; Janice Holton; Simon Mead; Martin N Rossor; Nick C Fox;
PUBLISHED: 2016, SOURCE: LANCET NEUROLOGY, VOLUME: 15, ISSUE: 13
INDEXED IN: Scopus WOS