E-LIB Suche - Ergebnisse für: Marcé Grau, Anna

1

O-17 Electroencephalographic characteristics of SYNGAP1 dev..:

Santa-Cruz, Daniela Isabel ; de la Ossa Vela, Alejandro Martinez ; Rasoamalala, Mónica Vicente..
Clinical Neurophysiology. 130 (2019) 7 - p. e26-e27 , 2019

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

2

Mutations in the mitochondrial complex I assembly factor ND..:

Baide-Mairena, Heidy ; Gaudó, Paula ; Marti-Sánchez, Laura...
Molecular Genetics and Metabolism. 126 (2019) 3 - p. 250-258 , 2019

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

3

The Genetic Landscape of Complex Childhood-Onset Hyperkinet..:

Gorman, Kathleen ; Marcé Grau, Anna ; Ortigoza Escobar, Juan Dario...
Movement Disorders;37(11). , 2022

Link: https://hdl.handle.net/1..

4

ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene:

Cazurro-Gutiérrez, Ana ; Marcé-Grau, Anna ; Correa-Vela, Marta...
Molecular Neurobiology. 58 (2021) 8 - p. 3938-3952 , 2021

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

5

Correction: Solving unsolved rare neurological diseases—a S..:

Schüle, Rebecca ; Timmann, Dagmar ; Erasmus, Corrie E....
European Journal of Human Genetics. 29 (2021) 9 - p. 1462-1465 , 2021

Link: https://doi.org/10.1038/..

6

Solving unsolved rare neurological diseases—a Solve-RD view..:

Schüle, Rebecca ; Timmann, Dagmar ; Erasmus, Corrie E....
European Journal of Human Genetics. 29 (2021) 9 - p. 1332-1336 , 2021

Link: https://doi.org/10.1038/..

7

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 ..:

Urbizu, Aintzane ; Garrett, Melanie E. ; Soldano, Karen...
PLOS ONE. 16 (2021) 5 - p. e0251289 , 2021

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

8

Biallelic PI4KA variants cause a novel neurodevelopmental s..:

Verdura, Edgard ; Rodríguez-Palmero, Agustí ; Vélez-Santamaria, Valentina...
Brain. 144 (2021) 9 - p. 2659-2669 , 2021

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

9

Early-onset eyelid stereotypies are a frequent and distinct..:

Sala-Coromina, Júlia ; Raspall-Chaure, Miquel ; Marcé-Grau, Anna..
Seizure. 92 (2021) - p. 155-157 , 2021

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

10

Biallelic PI4KA variants cause a novel neurodevelopmental s..:

Verdura, Edgard ; Rodríguez Palmero, Agustí ; Vélez Santamaría, Valentina...
Reproducció del document publicat a: https://doi.org/10.1093/brain/awab124. , 2021

Link: http://hdl.handle.net/24..

11

Muscarinic acetylcholine receptor M1 mutations causing neur..:

Marcé Grau, Anna ; Elorza Vidal, Xabier ; Pérez Rius, Carla...
Reproducció del document publicat a: https://doi.org/10.1002/humu.24252. , 2021

Link: http://hdl.handle.net/24..

12

Muscarinic acetylcholine receptor M1 mutations causing neur..:

Marcé Grau, Anna ; Elorza‐Vidal, Xabier ; Pérez‐Rius, Carla...
Human Mutation;42(10). , 2021

Link: https://hdl.handle.net/1..

13

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 ..:

Urbizu, Aintzane ; Garrett, Melanie E ; Soldano, Karen...
PLoS One;16(5). , 2021

Link: https://hdl.handle.net/1..

14

Delineating the motor phenotype of SGCE-myoclonus dystonia ..:

Vanegas, Maria I. ; Marcé-Grau, Anna ; Martí-Sánchez, Laura...
Parkinsonism & Related Disorders. 80 (2020) - p. 165-174 , 2020

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

15

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Syna..:

Salpietro, Vincenzo ; Malintan, Nancy T. ; Llano-Rivas, Isabel...
The American Journal of Human Genetics. 104 (2019) 4 - p. 721-730 , 2019

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