Takip et
Naiara Akizu
Naiara Akizu
Children's Hospital of Philadelphia/University of Pennsylvania
email.chop.edu üzerinde doğrulanmış e-posta adresine sahip - Ana Sayfa
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ...
science 343 (6170), 506-511, 2014
5572014
Exome sequencing can improve diagnosis and alter patient management
TJ Dixon-Salazar, JL Silhavy, N Udpa, J Schroth, S Bielas, AE Schaffer, ...
Science translational medicine 4 (138), 138ra78-138ra78, 2012
2932012
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
A Guemez-Gamboa, LN Nguyen, H Yang, MS Zaki, M Kara, T Ben-Omran, ...
Nature genetics 47 (7), 809-813, 2015
2302015
Modeling human disease in humans: the ciliopathies
G Novarino, N Akizu, JG Gleeson
Cell 147 (1), 70-79, 2011
1782011
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ...
Nature genetics 47 (5), 528-534, 2015
1372015
Genome-wide analysis reveals that Smad3 and JMJD3 HDM co-activate the neural developmental program
C Estarás, N Akizu, A García, S Beltrán, X de la Cruz, MA Martínez-Balbás
Development 139 (15), 2681-2691, 2012
1202012
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder
N Akizu, V Cantagrel, J Schroth, N Cai, K Vaux, D McCloskey, ...
Cell 154 (3), 505-517, 2013
1122013
H3K27me3 regulates BMP activity in developing spinal cord
N Akizu, C Estarás, L Guerrero, E Martí, MA Martínez-Balbás
Development 137 (17), 2915-2925, 2010
1022010
Mutations in CSPP1 lead to classical Joubert syndrome
N Akizu, JL Silhavy, RO Rosti, E Scott, AG Fenstermaker, J Schroth, ...
The American Journal of Human Genetics 94 (1), 80-86, 2014
912014
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
RM Lardelli, AE Schaffer, VRC Eggens, MS Zaki, S Grainger, S Sathe, ...
Nature genetics 49 (3), 457-464, 2017
842017
RNA polymerase II progression through H3K27me3-enriched gene bodies requires JMJD3 histone demethylase
C Estarás, R Fueyo, N Akizu, S Beltrán, MA Martínez-Balbás
Molecular biology of the cell 24 (3), 351-360, 2013
562013
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia
N Akizu, NM Shembesh, T Ben-Omran, L Bastaki, A Al-Tawari, MS Zaki, ...
The American Journal of Human Genetics 92 (3), 392-400, 2013
342013
Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation
MS Zaki, SN Saleem, WB Dobyns, AJ Barkovich, H Bartsch, AM Dale, ...
Brain 135 (8), 2416-2427, 2012
342012
EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21
N Akizu, MA García, C Estarás, R Fueyo, C Badosa, X de la Cruz, ...
Open biology 6 (4), 150227, 2016
332016
An increase in MECP2 dosage impairs neural tube formation
P Petazzi, N Akizu, A García, C Estarás, AM de Paz, ...
Neurobiology of Disease 67, 49-56, 2014
282014
Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome
A Guemez‐Gamboa, AO Çağlayan, V Stanley, A Gregor, MS Zaki, ...
Annals of neurology 84 (5), 638-647, 2018
252018
Multimerization of Zika Virus-NS5 causes ciliopathy and forces premature neurogenesis
M Saade, DS Ferrero, J Blanco-Ameijeiras, E Gonzalez-Gobartt, ...
Cell Stem Cell 27 (6), 920-936. e8, 2020
212020
Regulation of CBP and Tip60 coordinates histone acetylation at local and global levels during Ras-induced transformation
S Sánchez-Molina, C Estarás, JL Oliva, N Akizu, E Asensio-Juan, ...
Carcinogenesis 35 (10), 2194-2202, 2014
202014
EZH2 orchestrates apicobasal polarity and neuroepithelial cell renewal
N Akizu, MA Martínez-Balbás
Neurogenesis 3 (1), e1250034, 2016
142016
Characterization of structural variability sheds light on the specificity determinants of the interaction between effector domains and histone tails
S Lois, N Akizu, GM de Xaxars, I Vázquez, M Martínez-Balbás, ...
Epigenetics 5 (2), 137-148, 2010
72010
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