Publications
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Martins J, Darling A, Garrido C, Espinós C, Martí MJ, Dueñas BP and Temudo T.
Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients
Movement Disorders Clinical Practice . 6(8): 704-707.
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Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A, O'Callaghan-Gordo M, Tonda R, Jou-Munoz C and Araújo-Vilar D.
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 71: 161-165. Number of citations: 7
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Sánchez-Iglesias S, Crocker M, O'Callaghan-Gordo M, Darling A, Garcia-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ and Araújo-Vilar D.
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Neurogenetics . 20(2): 73-82. Number of citations: 7
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Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan-Gordo M, Ortez-Gonzalez CI, Nascimento-Osorio A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Munoz C, Muchart-Lopez J, Huisman TAGM, Poretti A, Lupo V, Espinós C and Pérez-Dueñas B.
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression
PARKINSONISM & RELATED DISORDERS . 61: 179-186. Number of citations: 27
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Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
Journal of Clinical Medicine . 8(1): . Number of citations: 12
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Candela-Cantó SA, Vanegas-Grisales MI, Darling A, Ortigoza-Escobar JD, Alamar M, Muchart-Lopez J, Climent A, Ferrer Vidal-Barraquer E, Rumià J and Pérez-Dueñas B.
Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.
JOURNAL OF NEUROSURGERY-PEDIATRICS . 22(4): 416-425. Number of citations: 20
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Tello C, Darling A, Lupo V, Pérez-Dueñas B and Espinós C.
On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.
CLINICAL GENETICS . 93(4): 731-740. Number of citations: 23
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Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero M, Batllori-Tragant M, Vanegas-Grisales MI, Muchart-Lopez J, Aquino L, Artuch-Iriberri R, Macaya A, Kurian MA and Pérez-Dueñas B.
Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system
ORPHANET JOURNAL OF RARE DISEASES . 13: 28-28. Number of citations: 37
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Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell-Sampol L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza-Escobar JD, Marti-Sanchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras-Palleja D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T and Pérez-Dueñas B.
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
MOVEMENT DISORDERS . 32(11): 1620-1630. Number of citations: 13
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Darling A, Poo P, Pérez-Dueñas B and Campistol-Plana J.
Medication-related oculogyric crises: a description of four cases and a review of the literature
REVISTA DE NEUROLOGIA . 56(3): 152-156. Number of citations: 1