Naiara Akizu

Children’s Hospital of Philadelphia / University of Pennsylvania, Philadelphia, PA, United States 
"Naiara Akizu"
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Guemez-Gamboa A, Çağlayan AO, Stanley V, et al. (2018) Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome. Annals of Neurology
Lardelli RM, Schaffer AE, Eggens VR, et al. (2017) Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics
Guemez-Gamboa A, Nguyen LN, Yang H, et al. (2015) Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nature Genetics. 47: 809-13
Akizu N, Cantagrel V, Zaki MS, et al. (2015) Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47: 528-34
Sánchez-Molina S, Estarás C, Oliva JL, et al. (2014) Regulation of CBP and Tip60 coordinates histone acetylation at local and global levels during Ras-induced transformation. Carcinogenesis. 35: 2194-202
Petazzi P, Akizu N, García A, et al. (2014) An increase in MECP2 dosage impairs neural tube formation. Neurobiology of Disease. 67: 49-56
Novarino G, Fenstermaker AG, Zaki MS, et al. (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science (New York, N.Y.). 343: 506-11
Akizu N, Silhavy JL, Rosti RO, et al. (2014) Mutations in CSPP1 lead to classical Joubert syndrome. American Journal of Human Genetics. 94: 80-6
Akizu N, Cantagrel V, Schroth J, et al. (2013) AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 154: 505-17
Akizu N, Shembesh NM, Ben-Omran T, et al. (2013) Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. American Journal of Human Genetics. 92: 392-400
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