Publications by authors named "Alejandra Darling"

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Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children.
Roser Pons, Toni S Pearson, Belen Perez-Dueñas, Angels Garcia-Cazorla, Manju A Kurian, Alejandra Darling

Mov Disord· August 2025

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Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
Daphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, Mareen Datema, Shanice Beerepoot, Alejandra Darling

Eur J Paediatr Neurol· July 2025

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Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.
Yaiza Díaz-Osorio, Helena Gimeno-Agud, Rosanna Mari-Vico, Sofía Illescas, Jose Miguel Ramos, Alejandra Darling

J Inherit Metab Dis· January 2025

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Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.
Helena Rodriguez-Gonzalez, Aida Ormazabal, Mercedes Casado, Angela Y Arias, Clara Oliva, Alejandra Darling

Clin Chem· December 2024

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Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.
María Eugenia Amato, Alejandra Darling, Lucie Stovickova, Stephen Attard, Hendriekje Eggink

Eur J Paediatr Neurol· September 2024

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Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Laura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, Eric Mallack, Rebecca Ahrens-Nicklas, Alejandra Darling

Cytotherapy· July 2024

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Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
Sofía Illescas, Yaiza Diaz-Osorio, Anna Serradell, Lucía Toro-Soria, Uliana Musokhranova, Alejandra Darling

J Inherit Metab Dis· May 2024

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Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Lorenzo Nanetti, Mary Kearney, Sylvia Boesch, Lucie Stovickova, Juan Darío Ortigoza-Escobar, Alejandra Darling

Neurol Sci· March 2024

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Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES).
Massimo Pandolfo, Kathrin Reetz, Alejandra Darling, Francisco Javier Rodriguez de Rivera, Pierre-Gilles Henry

Neurol Genet· December 2022

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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Alejandra Darling

Int J Mol Sci· October 2022

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Assessing the landscape of STXBP1-related disorders in 534 individuals.
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, Ganna Balagura, Eryn Fitch, Alejandra Darling

Brain· June 2022

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Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi-Goutières syndrome.
Dídac Casas-Alba, Alejandra Darling, Eva Caballero, Anna Mensa-Vilaró, Joaquim Bartrons

Rheumatology (Oxford)· April 2022

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Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up.
Abraham J Paredes-Fuentes, Sergi Cesar, Raquel Montero, Cristina Latre, Jordi Genovès, Alejandra Darling

Biomed Pharmacother· November 2021

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Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness.
Alejandra Darling, Pilar Irún, Pilar Giraldo, Judith Armstrong, Laura Gort

Parkinsonism Relat Disord· October 2021

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Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.
Candela Machuca, Marta Correa-Vela, Deyanira García-Navas, Alejandra Darling, Irene Villalón-García

Stem Cell Res· May 2021

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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
Marta Correa-Vela, Vincenzo Lupo, Marta Montpeyó, Paula Sancho, Anna Marcé-Grau, Alejandra Darling

Ann Clin Transl Neurol· August 2020

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Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients.
Joana Martins, Alejandra Darling, Cristina Garrido, Carmen Espinós, María José Martí

Mov Disord Clin Pract· November 2019

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A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
Ana Fernández-Marmiesse, Sofía Sánchez-Iglesias, Alejandra Darling, María M O'Callaghan, Raúl Tonda

Seizure· October 2019

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Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sofía Sánchez-Iglesias, Melissa Crocker, Mar O'Callaghan, Alejandra Darling, Angels García-Cazorla

Neurogenetics· May 2019

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PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
Alejandra Darling, Sergio Aguilera-Albesa, Cristina Aisha Tello, Mercedes Serrano, Miguel Tomás

Parkinsonism Relat Disord· April 2019

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Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Cristina Jou, Juan D Ortigoza-Escobar, Maria M O'Callaghan, Andres Nascimento, Alejandra Darling

J Clin Med· January 2019

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Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.
Santiago Candela, María Isabel Vanegas, Alejandra Darling, Juan Darío Ortigoza-Escobar, Mariana Alamar

J Neurosurg Pediatr· October 2018

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Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Alejandra Darling, Cristina Tello, María Josep Martí, Cristina Garrido, Sergio Aguilera-Albesa

Mov Disord· November 2017

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