Concepedia

Naiara Akizu

NA

Statistics

Publications

24

Citations

2.2K

H-Index

19

Active since

2010

Affiliations

University of California San Diego(Current)

Howard Hughes Medical Institute

Institut de Biologia Molecular de Barcelona

Broad Institute

National Research Centre

Naiara Akizu is an author at University of California San Diego specializing in life sciences, genetics, and molecular neuroscience.

Publications per year

2010–2024

24

Publications

24

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 540 citations

, , +17

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

Tracy Dixon‐Salazar, Jennifer L. Silhavy, Nitin Udpa et al. · Science Translational Medicine · 2012 · 258 citations

, , +16

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang et al. · Nature Genetics · 2015 · 216 citations · Full text

, , +14

Modeling Human Disease in Humans: The Ciliopathies

Gaia Novarino, Naiara Akizu, Joseph G. Gleeson · Cell · 2011 · 159 citations · Full text

, , +12

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki et al. · Nature Genetics · 2015 · 136 citations · Full text

, , +16

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