Publicaciones
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Neeman B, Sudhakar S, Biswas A, Rosenblum J, Sidpra J, D'Arco F, Löbel U, Gómez-Chiari M, Serrano M, Bolasell M, Reddy K, Ben-Sira L, Zakzouk R, Al-Hashem A, Mirsky DM, Patel R, Radhakrishnan R, Shekdar K, Whitehead MT and Mankad K.
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.
AMERICAN JOURNAL OF NEURORADIOLOGY . 45(10): 1570-1577.
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Serrano M, MARIA ELIAS ABADIAS, Llorens M, Bolasell M, Vall-Roqué H and Villalta L.
Early treatment for children with mental health problems and genetic conditions through a parenting intervention (The GAP): study protocol for a pragmatic randomized controlled trial.
Trials . 25(1): 496-496.
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Epifani F, Pujol Serra SM, Llorens M, Balsells S, Nolasco-Tovar GA, Bolasell M, SERGIO AGUILERA ALBESA, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R and Serrano M.
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
SCIENTIFIC REPORTS . 13(1): 22783-22783.
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Vega-Hanna L, Sanz-Cuesta M, Casas-Alba D, Bolasell M, Martorell-Sampol L, Pias-Peleteiro LD, Lucia FA, Martinez-Monseny T and Serrano M.
Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study
Frontiers in pediatrics . 11: 1184529-1184529. Nº de citas: 3
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Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Nº de citas: 6
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Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Nº de citas: 3
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Martinez-Monseny T, Casas-Alba D, Arjona-Fernandez C, Bolasell M, Casano-Sancho P, Muchart-Lopez J, Ramos F, Martorell-Sampol L, Palau F, García-Alix A and Serrano M.
Okur-Chung neurodevelopmental syndrome in a patient from Spain
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 20-24. Nº de citas: 16
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Martinez-Monseny T, Bolasell M, Callejón L, Cuadras-Palleja D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero-Sanchez R, Pérez-Cerdá C, Pérez-Dueñas B, Artuch-Iriberri R, Jaeken J, and the CDG Spanish Consortium and Serrano M.
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
ANNALS OF NEUROLOGY . 85(5): 740-751. Nº de citas: 52
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Martinez-Monseny T, Cuadras-Palleja D, Bolasell M, Muchart-Lopez J, Arjona-Fernandez C, Borregan M, Algrabli A, Montero-Sanchez R, Artuch-Iriberri R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B and Serrano M.
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
JOURNAL OF MEDICAL GENETICS . 56(4): 236-245. Nº de citas: 17
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Debora Coritza Itzep Perez, Martinez-Monseny T, Bolasell M, Cuadras-Palleja D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.
Neuropediatrics . 49(6): 408-413. Nº de citas: 4