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O'Callaghan, Mar
139  results:
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1

Management of seizures in patients with primary mitochondri..:

Mancuso, Michelangelo ; Papadopoulou, Maria T. ; Ng, Yi Shiau...
European Journal of Neurology.  31 (2024)  7 - p. , 2024
Link: https://doi.org/10.1111/..
 
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2

Developmental outcome of electroencephalographic findings i..:

Ribeiro-Constante, Juliana ; Tristán-Noguero, Alba ; Martínez Calvo, Fernando Francisco...
Frontiers in Cell and Developmental Biology.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

Genome and RNA sequencing were essential to reveal cryptic ..:

Morales-Romero, Blai ; Muñoz-Pujol, Gerard ; Artuch, Rafael...
Molecular Genetics and Metabolism.  142 (2024)  3 - p. 108511 , 2024
Link: https://doi.org/10.1016/..
 
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4

Global Impairment of Immediate-Early Genes Expression in Re..:

Petazzi, Paolo ; Jorge-Torres, Olga Caridad ; Gomez, Antonio...
International Journal of Molecular Sciences.  24 (2023)  2 - p. 1453 , 2023
Link: https://doi.org/10.3390/..
 
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5

Metabolic characterization of neurogenetic disorders involv..:

Illescas, Sofía ; Diaz‐Osorio, Yaiza ; Serradell, Anna...
Journal of Inherited Metabolic Disease.  47 (2023)  3 - p. 551-569 , 2023
Link: https://doi.org/10.1002/..
 
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6

Diagnosis of Genetic White Matter Disorders by Singleton Wh..:

Schlüter, Agatha ; Rodríguez-Palmero, Agustí ; Verdura, Edgard...
Neurology.  98 (2022)  9 - p. , 2022
Link: https://doi.org/10.1212/..
 
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7

Leigh syndrome is the main clinical characteristic of PTCD3..:

Muñoz‐Pujol, Gerard ; Ortigoza‐Escobar, Juan D. ; Paredes‐Fuentes, Abraham J....
Brain Pathology.  33 (2022)  3 - p. , 2022
Link: https://doi.org/10.1111/..
 
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8

Unraveling Molecular Pathways Altered in MeCP2-Related Synd..:

Castells, Alba-Aina ; Balada, Rafel ; Tristán-Noguero, Alba...
Biomedicines.  9 (2021)  2 - p. 148 , 2021
Link: https://doi.org/10.3390/..
 
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9

Pediatric Gaucher disease with intermediate type 2–3 phenot..:

Darling, Alejandra ; Irún, Pilar ; Giraldo, Pilar...
Parkinsonism & Related Disorders.  91 (2021)  - p. 19-22 , 2021
Link: https://doi.org/10.1016/..
 
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10

Molecular characterization of Spanish patients with MECP2 d..:

Pascual‐Alonso, Ainhoa ; Blasco, Laura ; Vidal, Silvia...
Clinical Genetics.  97 (2020)  4 - p. 610-620 , 2020
Link: https://doi.org/10.1111/..
 
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11

Comment on "A severe linezolid‐induced rhabdomyolysis and l..:

Bindoff, Laurence A. ; Brown, David A. ; Gorman, Gráinne S....
Journal of Inherited Metabolic Disease.  44 (2020)  1 - p. 6-7 , 2020
Link: https://doi.org/10.1002/..
 
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12

Five new cases of syndromic intellectual disability due to ..:

Urreizti, Roser ; Lopez-Martin, Estrella ; Martinez-Monseny, Antonio...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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13

Comprehensive Analysis of GABAA-A1R Developmental Alteratio..:

Oyarzabal, Alfonso ; Xiol, Clara ; Castells, Alba Aina...
International Journal of Molecular Sciences.  21 (2020)  2 - p. 518 , 2020
Link: https://doi.org/10.3390/..
 
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14

Safety of drug use in patients with a primary mitochondrial..:

De Vries, Maaike C. ; Brown, David A. ; Allen, Mitchell E....
Journal of Inherited Metabolic Disease.  43 (2020)  4 - p. 800-818 , 2020
Link: https://doi.org/10.1002/..
 
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15

Front Cover:

Pascual‐Alonso, Ainhoa ; Blasco, Laura ; Vidal, Silvia...
Clinical Genetics.  97 (2020)  4 - p. , 2020
Link: https://doi.org/10.1111/..
 
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