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Marcé‐Grau, Anna
83  results:
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1

Genetic diagnosis of basal ganglia disease in childhood:

Baide‐Mairena, Heidy ; Marti‐Sánchez, Laura ; Marcé‐Grau, Anna...
Developmental Medicine & Child Neurology.  64 (2022)  6 - p. 743-752 , 2022
Link: https://doi.org/10.1111/..
 
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2

Early recognition of SGCE‐myoclonus–dystonia in children:

Correa‐Vela, Marta ; Carvalho, Joao ; Ferrero‐Turrion, Julia...
Developmental Medicine & Child Neurology.  65 (2022)  2 - p. 207-214 , 2022
Link: https://doi.org/10.1111/..
 
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3

De novo KCNA6 variants with attenuated KV1.6 channel deacti..:

Salpietro, Vincenzo ; Galassi Deforie, Valentina ; Efthymiou, Stephanie...
Epilepsia.  64 (2022)  2 - p. 443-455 , 2022
Link: https://doi.org/10.1111/..
 
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4

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

Pérez‐Dueñas, Belén ; Gorman, Kathleen ; Marcé‐Grau, Anna...
Movement Disorders.  37 (2022)  11 - p. 2197-2209 , 2022
Link: https://doi.org/10.1002/..
 
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5

PRKRA‐Related Disorders: Bilateral Striatal Degeneration in..:

Masnada, Silvia ; Martinelli, Diego ; Correa‐Vela, Marta...
Movement Disorders.  36 (2021)  4 - p. 1038-1040 , 2021
Link: https://doi.org/10.1002/..
 
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6

Muscarinic acetylcholine receptor M1 mutations causing neur..:

Marcé‐Grau, Anna ; Elorza‐Vidal, Xabier ; Pérez‐Rius, Carla...
Human Mutation.  42 (2021)  10 - p. 1215-1220 , 2021
Link: https://doi.org/10.1002/..
 
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7

Impaired proteasome activity and neurodegeneration with bra..:

Correa‐Vela, Marta ; Lupo, Vincenzo ; Montpeyó, Marta...
Annals of Clinical and Translational Neurology.  7 (2020)  8 - p. 1436-1442 , 2020
Link: https://doi.org/10.1002/..
 
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8

Delineating the neurological phenotype in children with def..:

Marti‐Sanchez, Laura ; Baide‐Mairena, Heidy ; Marcé‐Grau, Anna...
Journal of Inherited Metabolic Disease.  44 (2020)  2 - p. 401-414 , 2020
Link: https://doi.org/10.1002/..
 
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9

Genetic defects of thiamine transport and metabolism: A rev..:

Marcé‐Grau, Anna ; Martí‐Sánchez, Laura ; Baide‐Mairena, Heidy..
Journal of Inherited Metabolic Disease.  42 (2019)  4 - p. 581-597 , 2019
Link: https://doi.org/10.1002/..
 
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10

Homomeric Kv7.2 current suppression is a common feature in ..:

Gomis‐Pérez, Carolina ; Urrutia, Janire ; Marcé‐Grau, Anna...
Epilepsia.  60 (2018)  1 - p. 139-148 , 2018
Link: https://doi.org/10.1111/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

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/..
 
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