E-LIB Suche - Ergebnisse für: San Millán, Beatriz

1

A murine model of BSCL2-associated Celia's encephalopathy:

Cobelo-Gómez, Silvia ; Sánchez-Iglesias, Sofía ; Rábano, Alberto...
Neurobiology of Disease. 187 (2023) - p. 106300 , 2023

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

2

Description of the first Spanish case of Gerstmann–Sträussl..:

Eraña, Hasier ; San Millán, Beatriz ; Díaz-Domínguez, Carlos M....
Journal of Neurology. 269 (2022) 8 - p. 4253-4263 , 2022

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

3

Chimeric Peptide Species Contribute to Divergent Dipeptide ..:

McEachin, Zachary T. ; Gendron, Tania F. ; Raj, Nisha...
Neuron. 107 (2020) 2 - p. 292-305.e6 , 2020

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

4

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Con..:

Todd, Tiffany W. ; McEachin, Zachary T. ; Chew, Jeannie...
Cell Reports. 31 (2020) 5 - p. 107616 , 2020

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

5

Fabry disease in the Spanish population: observational stud..:

Vieitez, Irene ; Souto-Rodriguez, Olga ; Fernandez-Mosquera, Lorena...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

6

Learning curve of thyroid fine-needle aspiration biopsy:

Penín, Manuel ; Martín, M. Ángeles ; San Millán, Beatriz.
Endocrinología, Diabetes y Nutrición (English ed.). 64 (2017) 10 - p. 539-543 , 2017

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

7

Phenotypical features of a new dominant GDAP1 pathogenic va..:

García-Sobrino, Tania ; Blanco-Arias, Patricia ; Palau, Francesc...
Neuromuscular Disorders. 27 (2017) 7 - p. 667-672 , 2017

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

8

SBF1 mutations associated with autosomal recessive axonal n..:

Manole, Andreea ; Horga, Alejandro ; Gamez, Josep...
neurogenetics. 18 (2016) 1 - p. 63-67 , 2016

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

9

Severe TK2 enzyme activity deficiency in patients with mild..:

Cámara, Yolanda ; Carreño-Gago, Lidia ; Martín, Miguel A....
Neurology. 84 (2015) 22 - p. 2286-2288 , 2015

Link: https://doi.org/10.1212/..

10

Erratum to: Knecht E, Criado-García O, Aguado C, Gayarre J,..:

Knecht, Erwin ; Criado-García, Olga ; Aguado, Carmen...
Autophagy. 8 (2012) 7 - p. 1163-1163 , 2012

Link: https://doi.org/10.4161/..

11

Malin knockout mice support a primary role of autophagy in ..:

Knecht, Erwin ; Criado-García, Olga ; Aguado, Carmen...
Autophagy. 8 (2012) 4 - p. 701-703 , 2012

Link: https://doi.org/10.4161/..

12

Molecular and clinical study of McArdle's disease in a coho..:

Vieitez, Irene ; Teijeira, Susana ; Fernandez, Jose M....
Neuromuscular Disorders. 21 (2011) 12 - p. 817-823 , 2011

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

13

Lafora bodies and neurological defects in malin-deficient m..:

Criado, Olga ; Aguado, Carmen ; Gayarre, Javier...
Human Molecular Genetics. 21 (2011) 7 - p. 1521-1533 , 2011

Link: https://doi.org/10.1093/..

14

Chorionic villi ultrastructure in the prenatal diagnosis of..:

San Millan, Beatriz ; Teijeira, Susana ; Domínguez, Carmen..
Journal of Inherited Metabolic Disease. 33 (2010) S3 - p. 105-111 , 2010

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

15

Acute Necrotizing Encephalopathy of Childhood: Report of a ..:

San Millan, Beatriz ; Teijeira, Susana ; Penin, Carmen..
Pediatric Neurology. 37 (2007) 6 - p. 438-441 , 2007

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