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1

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

Akizu, Naiara, Cantagrel, Vincent, Schroth, Jana, Cai, Na, Vaux, Keith, McCloskey, Douglas, Naviaux, Robert K., Van Vleet, Jeremy, Fenstermaker, Ali G., Silhavy, Jennifer L., Scheliga, Judith S., Toya

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 3.30 MB

english, 2013

2

Modeling Human Disease in Humans: The Ciliopathies

Gaia Novarino, Naiara Akizu, Joseph G. Gleeson

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 989 KB

english, 2011

3

Mutations in CSPP1 Lead to Classical Joubert Syndrome

Akizu, Naiara, Silhavy, Jennifer L., Rosti, Rasim Ozgur, Scott, Eric, Fenstermaker, Ali G., Schroth, Jana, Zaki, Maha S., Sanchez, Henry, Gupta, Neerja, Kabra, Madhulika, Kara, Majdi, Ben-Omran, Tawfe

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2014

4

Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia

Akizu, Naiara, Shembesh, Nuri M., Ben-Omran, Tawfeg, Bastaki, Laila, Al-Tawari, Asma, Zaki, Maha S., Koul, Roshan, Spencer, Emily, Rosti, Rasim Ozgur, Scott, Eric, Nickerson, Elizabeth, Gabriel, Stace

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 954 KB

english, 2013

5

An increase in MECP2 dosage impairs neural tube formation

Petazzi, Paolo, Akizu, Naiara, García, Alejandra, Estarás, Conchi, Martínez de Paz, Alexia, Rodríguez-Paredes, Manuel, Martínez-Balbás, Marian A., Huertas, Dori, Esteller, Manel

Journal:

Neurobiology of Disease

Année:

2014

Langue:

english

Fichier:

PDF, 1.93 MB

english, 2014

6

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

Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennif

Journal:

Nature Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 4.39 MB

english, 2015

7

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

Guemez-Gamboa, Alicia, Nguyen, Long N, Yang, Hongbo, Zaki, Maha S, Kara, Majdi, Ben-Omran, Tawfeg, Akizu, Naiara, Rosti, Rasim Ozgur, Rosti, Basak, Scott, Eric, Schroth, Jana, Copeland, Brett, Vaux, K

Journal:

Nature Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2015

8

Characterization of structural variability sheds light on the specificity determinants of the interaction between effector domains and histone tails

Lois, Sergi, Akizu, Naiara, de Xaxars, Gemma Mas, Vázquez, Iago, Martínez-Balbás, Marian, de la Cruz, Xavier

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 1.99 MB

english, 2010

9

EZH2 orchestrates apicobasal polarity and neuroepithelial cell renewal

Akizu, Naiara, Martínez-Balbás, Marian A.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2016

10

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Lardelli, Rea M, Schaffer, Ashleigh E, Eggens, Veerle R C, Zaki, Maha S, Grainger, Stephanie, Sathe, Shashank, Van Nostrand, Eric L, Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, S

Journal:

Nature Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 3.43 MB

english, 2017

11

EZH2 regulates neuroepithelium structure and neuroblast proliferation by repressing p21

Akizu, Naiara, García, María Alejandra, Estarás, Conchi, Fueyo, Raquel, Badosa, Carmen, de la Cruz, Xavier, Martínez-Balbás, Marian A.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2016

12

Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome

Guemez-Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha, Saleem, Sahar N., Musaev, Damir, McEvoy-Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennife

Journal:

Annals of Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2018

13

Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis

Saade, Murielle, Ferrero, Diego S., Blanco-Ameijeiras, JosÃ©, Gonzalez-Gobartt, Elena, Flores-Mendez, Marco, Ruiz-Arroyo, Victor M., MartÃnez-SÃ¡ez, Elena, RamÃ³n y Cajal, Santiago, Akizu, Naiara, Ve

Journal:

Année:

2020

Fichier:

PDF, 8.48 MB

2020