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Akizu, Naiara
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1

KOLF2.1J iPSCs carry CNVs associated with neurodevelopmenta..:

Gracia-Diaz, Carolina ; Perdomo, Jonathan E. ; Khan, Munir E....
Cell Stem Cell.  31 (2024)  3 - p. 288-289 , 2024
Link: https://doi.org/10.1016/..
 
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2

Altered lipid homeostasis is associated with cerebellar neu..:

Zhou, Yijing ; Sanchez, Vanessa B. ; Xu, Peining...
JCI Insight.  9 (2024)  10 - p. , 2024
Link: https://doi.org/10.1172/..
 
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3

Targeted therapy improves cellular dysfunction, ataxia, and..:

Feng, Huijie ; Clatot, Jerome ; Kaneko, Keisuke...
Cell Reports Medicine.  5 (2024)  2 - p. 101389 , 2024
Link: https://doi.org/10.1016/..
 
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4

Enzyme polymerization in nucleotide biosynthesis:

Peterson, Jeff ; Akizu, Naiara ; Simonet, Jacqueline..
The FASEB Journal.  34 (2020)  S1 - p. 1-1 , 2020
Link: https://doi.org/10.1096/..
 
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5

Loss of Protocadherin‐12Leads to Diencephalic‐Mesencephalic..:

Guemez‐Gamboa, Alicia ; Çağlayan, Ahmet Okay ; Stanley, Valentina...
Annals of Neurology.  84 (2018)  5 - p. 638-647 , 2018
Link: https://doi.org/10.1002/..
 
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6

Biallelic mutations in the 3′ exonuclease TOE1 cause pontoc..:

Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle R C...
Nature Genetics.  49 (2017)  3 - p. 457-464 , 2017
Link: https://doi.org/10.1038/..
 
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7

Inactivating mutations in MFSD2A, required for omega-3 fatt..:

Guemez-Gamboa, Alicia ; Nguyen, Long N ; Yang, Hongbo...
Nature Genetics.  47 (2015)  7 - p. 809-813 , 2015
Link: https://doi.org/10.1038/..
 
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8

Biallelic mutations in SNX14 cause a syndromic form of cere..:

Akizu, Naiara ; Cantagrel, Vincent ; Zaki, Maha S...
Nature Genetics.  47 (2015)  5 - p. 528-534 , 2015
Link: https://doi.org/10.1038/..
 
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9

An increase in MECP2 dosage impairs neural tube formation:

Petazzi, Paolo ; Akizu, Naiara ; García, Alejandra...
Neurobiology of Disease.  67 (2014)  - p. 49-56 , 2014
Link: https://doi.org/10.1016/..
 
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10

Exome Sequencing Links Corticospinal Motor Neuron Disease t..:

Novarino, Gaia ; Fenstermaker, Ali G. ; Zaki, Maha S....
Science.  343 (2014)  6170 - p. 506-511 , 2014
Link: http://www.jstor.org/sta..
 
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11

Regulation of CBP and Tip60 coordinates histone acetylation..:

Sánchez-Molina, Sara ; Estarás, Conchi ; Oliva, José Luis...
Carcinogenesis.  35 (2014)  10 - p. 2194-2202 , 2014
Link: https://doi.org/10.1093/..
 
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12

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potential..:

Akizu, Naiara ; Cantagrel, Vincent ; Schroth, Jana...
Cell.  154 (2013)  3 - p. 505-517 , 2013
Link: https://doi.org/10.1016/..
 
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13

Modeling Human Disease in Humans: The Ciliopathies:

Novarino, Gaia ; Akizu, Naiara ; Gleeson, Joseph G.
Cell.  147 (2011)  1 - p. 70-79 , 2011
Link: https://doi.org/10.1016/..
 
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14

Characterization of structural variability sheds light on t..:

Lois, Sergi ; Akizu, Naiara ; de Xaxars, Gemma Mas...
Epigenetics.  5 (2010)  2 - p. 137-148 , 2010
Link: https://doi.org/10.4161/..
 
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15

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
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