Naiara Akizu

Affiliations: 
Children’s Hospital of Philadelphia / University of Pennsylvania, Philadelphia, PA, United States 
Google:
"Naiara Akizu"
Mean distance: (not calculated yet)
 
BETA: Related publications

Publications

You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect.

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
See more...