E-LIB Suche - Ergebnisse für: Martínez Mir, Amalia

1

Exploring genetic testing requests, genetic alterations and..:

Garrido-Torres, Nathalia ; Marqués Rodríguez, Renata ; Alemany-Navarro, María...
European Child & Adolescent Psychiatry. , 2024

Link: https://doi.org/10.1007/..

2

A Neuroligin-1 mutation associated with Alzheimer's disease..:

Arias-Aragón, Francisco ; Tristán-Clavijo, Enriqueta ; Martínez-Gallego, Irene...
iScience. 26 (2023) 6 - p. 106868 , 2023

Link: https://doi.org/10.1016/..

3

Selective expression of the neurexin substrate for presenil..:

Sánchez-Hidalgo, Ana C. ; Arias-Aragón, Francisco ; Romero-Barragán, M. Teresa...
Experimental Neurology. 347 (2022) - p. 113896 , 2022

Link: https://doi.org/10.1016/..

4

Proteolytic Processing of Neurexins by Presenilins Sustains..:

Servián-Morilla, Emilia ; Robles-Lanuza, Estefanía ; Sánchez-Hidalgo, Ana C....
The Journal of Neuroscience. 38 (2017) 4 - p. 901-917 , 2017

Link: https://doi.org/10.1523/..

5

Analysis of CCM1 expression uncovers novel minor-form exons..:

Mondejar, Rufino ; Delgado, Mercedes ; Solano, Francisca...
Genes & Genomics. 38 (2016) 9 - p. 879-889 , 2016

Link: https://doi.org/10.1007/..

6

A truncating mutation in Alzheimer's disease inactivates ne..:

Tristán-Clavijo, Enriqueta ; Camacho-Garcia, Rafael J. ; Robles-Lanuza, Estefanía...
Neurobiology of Aging. 36 (2015) 12 - p. 3171-3175 , 2015

Link: https://doi.org/10.1016/..

7

Genetic study of NRXN1β variants in Spanish patients with s..:

Abasolo, Nerea ; Roig, Bàrbara ; Martorell, Lourdes...
Schizophrenia Research. 159 (2014) 2-3 - p. 554-555 , 2014

Link: https://doi.org/10.1016/..

8

Clinical and Molecular Study of the Extracellular Matrix Pr..:

Mondejar, Rufino ; Garcia-Moreno, Jose Manuel ; Rubio, Rocio...
Journal of Clinical Neurology. 10 (2014) 1 - p. 64 , 2014

Link: https://doi.org/10.3988/..

9

Mutation Prevalence of Cerebral Cavernous Malformation Gene..:

Mondéjar, Rufino ; Solano, Francisca ; Rubio, Rocío...
PLoS ONE. 9 (2014) 1 - p. e86286 , 2014

Link: https://doi.org/10.1371/..

10

Mutations affecting synaptic levels of neurexin-1β in autis..:

Camacho-Garcia, Rafael J. ; Planelles, Mª. Inmaculada ; Margalef, Mar...
Neurobiology of Disease. 47 (2012) 1 - p. 135-143 , 2012

Link: https://doi.org/10.1016/..

11

Genome-wide linkage analysis of an autosomal recessive hypo..:

Petukhova, Lynn ; Sousa Jr., Edilson C. ; Martinez-Mir, Amalia...
Genomics. 92 (2008) 5 - p. 273-278 , 2008

Link: https://doi.org/10.1016/..

12

Genomewide Scan for Linkage Reveals Evidence of Several Sus..:

Martinez-Mir, Amalia ; Zlotogorski, Abraham ; Gordon, Derek...
The American Journal of Human Genetics. 80 (2007) 2 - p. 316-328 , 2007

Link: https://doi.org/10.1086/..

13

Germline fumarate hydratase mutations and evidence for a fo..:

Chuang, Gary S. ; Martinez-Mir, Amalia ; Geyer, Adam...
Journal of the American Academy of Dermatology. 52 (2005) 3 - p. 410-416 , 2005

Link: https://doi.org/10.1016/..

14

Novel compound heterozygous nonsense mutations in the hairl..:

Ashoor, Ghalia G. ; Greenstein, Robert M. ; Lam, HaMut...
Journal of Dermatological Science. 40 (2005) 1 - p. 29-33 , 2005

Link: https://doi.org/10.1016/..

15

Desmoglein 4 in Hair Follicle Differentiation and Epidermal..:

Kljuic, Ana ; Bazzi, Hisham ; Sundberg, John P...
Cell. 113 (2003) 2 - p. 249-260 , 2003

Link: https://doi.org/10.1016/..