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Ortigoza‐Escobar, Juan D.
132  results:
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1

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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2

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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3

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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4

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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5

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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6

Cerebrospinal fluid monoamines, pterins, and folate in pati..:

Batllori, Marta ; Molero‐Luis, Marta ; Ormazabal, Aida...
Journal of Inherited Metabolic Disease.  41 (2018)  6 - p. 1147-1158 , 2018
Link: https://doi.org/10.1007/..
 
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7

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition w..:

Ortigoza‐Escobar, Juan Darío ; Zamani, Mina ; Dorison, Nathalie...
Movement Disorders.  , 2024
Link: https://doi.org/10.1002/..
 
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8

Emergence of lingual dystonia and strabismus in early‐onset..:

Ancora, Caterina ; Ortigoza‐Escobar, Juan Dario ; Valletti, Margherita Aluffi...
Epileptic Disorders.  26 (2024)  2 - p. 219-224 , 2024
Link: https://doi.org/10.1002/..
 
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9

Clinical and Molecular Profiling in GNAO1 Permits Phenotype..:

Lasa‐Aranzasti, Amaia ; Larasati, Yonika A. ; da Silva Cardoso, Juliana...
Movement Disorders.  , 2024
Link: https://doi.org/10.1002/..
 
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10

Atypical Mowat‐Wilson Syndrome: Dystonia, Choreoathetosis a..:

Nou‐Fontanet, Laia ; Martí‐Sánchez, Laura ; Martorell, Loreto..
Movement Disorders Clinical Practice.  , 2024
Link: https://doi.org/10.1002/..
 
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11

Clinical and Molecular Spectrum of Autosomal Recessive CA8‐..:

Kaiyrzhanov, Rauan ; Ortigoza‐Escobar, Juan Darío ; Stringer, Brett W....
Movement Disorders.  39 (2024)  6 - p. 983-995 , 2024
Link: https://doi.org/10.1002/..
 
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12

Chromosome Microarray Analysis for the Investigation of Del..:

Soliani, Luca ; Alcalá San Martín, Adrián ; Balsells, Sol..
Movement Disorders Clinical Practice.  10 (2023)  4 - p. 547-557 , 2023
Link: https://doi.org/10.1002/..
 
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13

Systematic review of drug therapy for chorea in NXK2‐1‐rela..:

Nou‐Fontanet, Laia ; Martín‐Gómez, Carmen ; Isabel‐Gómez, Rebeca...
European Journal of Neurology.  30 (2023)  12 - p. 3928-3948 , 2023
Link: https://doi.org/10.1111/..
 
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14

Exploring the Spectrum of RHOBTB2 Variants Associated with ..:

de Pedro Baena, Sonia ; Sariego Jamardo, Andrea ; Castro, Pedro...
Movement Disorders Clinical Practice.  10 (2023)  11 - p. 1671-1679 , 2023
Link: https://doi.org/10.1002/..
 
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15

Coexistence of junctional epidermolysis bullosa, autosomal ..:

Amato, Maria Eugenia ; Ricart, Silvia ; Vicente, Maria Asunción...
Clinical Case Reports.  11 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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